2021 ANNUAL HIGHLIGHTS OF THE RESIDENT & FELLOW SECTION - A Representative Collection of Previously Published Articles
←
→
Page content transcription
If your browser does not render page correctly, please read the page content below
A Representative
Collection
of Previously
Published
Articles
2021 ANNUAL HIGHLIGHTS
OF THE RESIDENT & FELLOW
SECTION
RESIDENT & FELLOW SECTION
HOW CAN I CONTRIBUTE?
The Neurology® Resident & Fellow (R&F) Section provides countless opportunities for trainees to make an introductory contribution
to the field. We have over 12 categories of manuscripts, from Global and Community Health to Clinical Reasoning cases. Every year,
the R&F team develops innovative submission opportunities and new ways to engage our readers and users.
EXPLORE THE R&F SITE ANSWER OUR MYSTERY CASE QUESTIONS
Access NPub.org/RF for the latest blogs, articles, e-Pearls, Disseminated via our social media sites, emails, and our website,
Mystery Cases, and other trainee resources. The print issue also these mini-cases pose fascinating questions for the reader and
features “Resident & Fellow Rounds”—a monthly summary of provide instructions for submitting your answers.
the R&F Section articles.
CHECK OUT A TOPIC
The R&F team members have compiled a list of prospective
SUBMIT AN E-PEARL
topics for authors under the following subcategories: Child
These brief educational points often tie in to a Neurology article,
Neurology, Opinion & Special Articles, and Emerging
podcast, or item on the website. Each should consist of 85 words
Subspecialties.
or less and one reference.
ACCESS THE AUTHOR GUIDES
BECOME A PEER REVIEWER The R&F Author Center provides pictorial guides on writing
Create an account at submit.neurology.org and include any expertise Clinical Reasoning, Pearls & Oy-sters, and Teaching NeuroImages
terms that interest you. After your profile is complete, contact the at NPub.org/rfsections.
editorial office at rfsection@neurology.org and you will be added to the
database of available reviewers. HAVE MORE QUESTIONS? HAVE AN IDEA?
Contact the editorial office at rfsection@neurology.org.
FOLLOW NEUROLOGY ON SOCIAL MEDIA
Receive the R&F Section alerts including e-Pearls, Mystery
Cases, and recently published article alerts.
@AANResidentsAndFellows
@greenjournal
#NeurologyRF EDITOR DEPUTY EDITOR
Roy E. Strowd III, Whitley Aamodt,
#NeurologyRF MD MD
TABLE OF CONTENTS Neurology.org
2 Editorial 37 Mystery Cases
Mystery Case: Clinical Reasoning: Recurrent cerebral
3 2021 Writing Award Winner
ischemia during pregnancies
Education research: Effect of COVID-19 on Neurology Zachary Bulwa, Laura P. Dresser, Jamie Clarke, Scott Mendelson.
Trainees in Italy: A resident-driven survey Neurology October 2020, 95 (17) e2453-e2457; DOI: 10.1212/
December 8, 2020. https://n.neurology.org/content/95/23/1061 WNL.0000000000010829
4 Editorial Team 43 Pearls & Oy-sters
6 Top 10 Ways for Program Directors to Use the Pearls & Oy-sters: Fatal brain edema is a rare
Neurology Resident & Fellow Section complication of severe CACNA1A-related disorder
Laurence Gauquelin, Cynthia Hawkins, Emily W.Y. Tam, Steven P.
7 Child Neurology Miller, Grace Yoon.
Child Neurology: Genetically determined dystonias https://doi.org/10.1212/WNL.0000000000009223https://n.
with childhood onset neurology.org/content/94/14/631/tab-article-info
Travis Larsh, MD, Neil Friedman, MBChB, and Hubert Fernandez, MD 48 Right Brain
2020;94:892-895. DOI:10.1212/WNL.0000000000009040
Right Brain: Dad’s pride
12 Clinical Reasoning Maria Diaz
December 30, 2019, DOI: https://doi.org/10.1212/
Clinical Reasoning: Bilateral ptosis, dysphagia, and
WNL.0000000000008703
progressive weakness in a patient of French-Canadian
background 51 Teaching NeuroImages
Pritikanta Paul, MD, Reem Alhammad, MD, and Elie Naddaf, MD Teaching NeuroImages: Pupil-sparing compression of
Neurology 2020;95:933-938. DOI:10.1212/WNL.0000000000010613 oculomotor nerve by posterior cerebral artery vessel
19 Education Research Anfei Li, Anika Tandon, Apostolos J. Tsiouris, et al
Neurology March 09, 2020
Education Research: Neurology Resident EEG Education:
A Survey of US Neurology Residency Program Directors 54 Teaching Video Neuroimages
Fábio A. Nascimento, Jay R. Gavvala. Teaching Video NeuroImages: Acute hemichorea-
Neurology December 11, 2020 hemiballism reverted after IV thrombolysis
Caio Disserol, Bárbara Alencar, Jacy Parmera, Adriana Bastos Conforto,
24 Emerging Subspecialties Lécio Figueira Pinto.
Emerging Subspecialties in Neurology: DOI: https://doi.org/10.1212/WNL.0000000000008706
Neurodevelopmental disabilities
Nicolas J. Abreu, David K. Urion, Miya R. Asato. 57 Training in Neurology
Neurology August 14, 2020 Training in Neurology: Adoption of resident
teleneurology training in the wake of COVID-19:
28 Global & Community Health Telemedicine crash course
Global & Community Health: Bringing neurologists into Alicia M. Zha, Lee S. Chung, Shlee S. Song, Jennifer J. Majersik, Amanda
shelters for better patient care: Neurons on Wheels L. Jagolino-Cole.
Joy Zhuo Ding, Jeff Turnbull, Chris Skinner. June 17, 2020, DOI: https://doi.org/10.1212/
Neurology July 2020, 95 (2) 91-93; DOI: 10.1212/ WNL.0000000000010029
WNL.0000000000009772 62 ePearls
32 Journal Club May 6, 2020 e-Pearl of the Week:
Journal Club: Scoping review of prevalence of neurologic Rhythmic Ictal Nonclonic Hand (RINCH)
comorbidities in patients hospitalized for COVID-19 https://n.neurology.org/epearls/20200506,
Guillermo Delgado-García, Antonio Arauz, Teresa Corona. August 31, 2020, e-Pearl of the Week:
Neurology July 29, 2020 Cogan’s Lid Twitch Sign
https://n.neurology.org/epearls/20200831.
About the cover
From: Teaching NeuroImages: Pseudopathologic brain parenchymal enhancement due to vascular compression in parotid tumor
Bernardo Correa de Almeida Teixeira, MD, PhD; Marianna Cioni, MD; Debora Brighente Bertholdo, MD; Luiz Ot´avio de Mattos Coelho, MD; and Dante Luiz Escuissato, MD, PhD
Neurology 2020;94:e1778-1779. doi:10.1212/WNL.0000000000009300.
CT angiography
Coronal (A) and axial (B, C) CT angiography done by right side antecubital vein injection reveals jugular and cervical veins reflux (blue arrows) reaching the parotid tumor (orange arrow), with opacification of
carotid and vertebral arteries (red arrows) and enhancement of intracranial compartment (yellow arrow). Also note hemithyroid contrast reflux (green arrow).
Neurology ® Resident & Fellow Section
Roy E. Strowd III, MD, MS, MEd, FAAN, and Whitley Aamodt, MD, MPH
The mission of the Resident & Fellow Section (RFS) is to keep our In addition to publishing, writing, and reviewing for the journal, the
readers up to date on issues relevant to trainees, educators, and RFS Editorial Team members have initiated and developed multiple
others interested in the training and practice of neurology. The RFS unique projects over the years, including podcasts (beginning in
was launched in 2004 by Robert "Berch" Griggs, MD, FAAN, then 2007), weekly e-Pearls (2008), an annual Writing Award (first given
the editor-in-chief of Neurology, and Karen C. Johnston, MD, MSC, in 2009), a mentored peer review training program (2016), social
associate editor. The RFS is a trainee-run editorial team of more than media presence to disseminate journal content (2019), and the
20 neurology residents and fellows who are responsible for reviewing, publication of two books, Clinical Reasoning and Child Neurology,
editing, and publishing articles. Residents are selected for a three- with previously published cases compiled to provide an educational
year term annually through a competitive process that attracts many resource for trainees and program directors. One of the greatest
dozens of applicants. The board attracts a diverse applicant pool and accomplishments of the RFS is the mentor-mentee program designed
currently 45 percent of editorial team members are women and 25 to pair new RFS team members with recent graduates of the section.
percent are international members from Italy, Philippines, Mexico, This past year, the program was expanded under the direction of
United Kingdom, and Canada. Past editorial team members have former team member Ariel M. Lyons-Warren, MD, PhD, to serve as
gone on to other important editorial activities at Neurology and a structured model for bringing new, young peer reviewers into the
elsewhere, and they have found the experience a formative part of process, even outside the RFS itself.
their careers. This past year, Roy E. Strowd, MD, MEd, MS, FAAN,
The RFS webpage has exciting features such as the blog, special
the RFS associate editor, assumed leadership of the section from
e-Pearls formatting, listings of the latest RFS articles, and online
John J. Millichap, MD, FAAN. He is joined by Deputy Section Editor
survey platform for the Mystery Cases. There are also links to other
Whitley Aamodt, MD, MPH, another former editorial team member.
resident and fellow resources on the Neurology website and at AAN.
Photographs and brief biographies of the current Resident & Fellow
com. We publish one RFS article in every print issue of Neurology,
Section editorial team can be found in this Highlights booklet.
and the “Resident and Fellow Rounds” commentary written
The number of submissions to the section has grown considerably monthly by the RFS section editors provides summaries of RFS
from 481 submissions in 2013 to 1,133 in 2020 (Figure 1). This articles published with each issue. The RFS editorial team members
represents a 235-percent increase from 2013 and a 139-percent are proud of the additional exposure through print distribution
increase from 2019. The RFS publishes primarily case reports and and expect that this will undoubtedly encourage the continued
opinion pieces, with scientific research articles limited to education submission of high-quality manuscripts. Recognizing the role of
research. The subsections are curated by the RFS Editorial Team social media in medicine and daily life, the RFS delivers regular
members and focus on (1) case-based clinical neurologic education, Instagram, Twitter, and Facebook posts and is involved in the
including Clinical Reasoning, Pearls & Oy-sters, Child Neurology, Neurology Minute™ daily briefing as well.
Teaching NeuroImages, and Mystery Cases; (2) graduate medical
Neurology recognizes that the future of the journal, and the future of
education, including Journal Club, Global and Community Health,
the field of neurology itself, depends on the interest and commitment
and Education Research; and (3) career issues, including Emerging
of its readers and writers. This journal is one of the most important
Subspecialties in Neurology. Descriptions of these subsections
records of our profession, and current trainees are the profession’s
appear in this Highlights booklet and include the top representative
most valuable resource. Accordingly, the RFS is strongly supported
articles published in the past year as selected by the RFS Editorial
by Neurology’s current Editor-in-Chief José G. Merino, MD, MPHIL,
Team members.
FAHA, FAAN; Executive Editor Patty Baskin; editorial staff; the
Over the past year, the RFS responded to the considerable challenges AAN; and publisher Wolters Kluwer. In particular, Managing Editor
presented by the COVID-19 pandemic with a call for papers on the Kathy Pieper has provided continual assistance and encouragement
impact of COVID-19 on training in neurology. Of the 73 Neurology without which the section could not have survived. We welcome
articles published on the COVID-19 pandemic, 14 (19 percent) submission of manuscripts for the Resident & Fellow Section, and
were published in the RFS including nine case-based publications author instructions can be found at Neurology.org. Papers submitted
describing neurological manifestations in patients with COVID-19 for this section will undergo the same thorough peer-review
and five articles relating to adaptation of training in response to the process as all Neurology submissions, and it is anticipated they will
pandemic. The RFS has also expanded its blog site to provide a forum reflect the same high level of quality. It is further expected that
for resident and fellow dialogue on the pandemic as well as health manuscripts published in the section will carry the same academic
equity, anti-racism, and virtual learning. weight, whether online or in print, as papers published elsewhere
in the Neurology journals. We also continue to welcome input from
Education is central to the mission of the RFS. In 2020, Neurology
our readers, including program directors and other educators, on
received 87 education articles which is up from 11 in 2012 and 49 in
features that will be most valuable. Questions and comments should
2019. The Education Research subsection publishes research articles
be addressed to Roy Strowd, Whitley Aamodt, or Kathy Pieper at
on new teaching, learning, and assessment methods. Training in
rfsection@neurology.org. We hope you enjoy this year’s edition of the
Neurology describes innovative approaches to teaching at all levels of
Highlights of the Resident & Fellow Section!
training. These two submission types in addition to Contemporary
Issues—Innovations in Education accept a range of manuscripts Roy E. Strowd III, MD, MS, MEd, FAAN, Section Editor
describing best practices and new innovations in education within Resident &Fellow Section
neurology.
Whitley Aamodt, MD, MPH, Deputy Section Editor
Resident & Fellow Section
2
2021 Resident & Fellow Section Writing Award
Education Research
Effect of the COVID-19 pandemic on neurology
trainees in Italy: A resident-driven survey
Elena Abati and Gianluca Costamagna
Neurology 2020;95;1061-1066
The Neurology Resident & Fellow Section Writing Award is intended to recognize the extraordinary writing abilities of those currently in
training in neurology. Eligible manuscripts will include any submitted to and published in the Neurology Resident & Fellow Section, whether
online or in print. Submissions on any topic of interest to trainees and in any subcategory of the section will be eligible. The main criteria
for selection will be educational value, novelty, depth of exposition, and clarity of writing. At least one author of the manuscript must be a
resident or fellow in one of the neurologic subspecialties. All authors will be considered equal recipients of the award in order to recognize
and encourage collaborative work among trainees. The award will be announced in early 2022 and will be awarded for a paper published in
2021.
No formal application process is required. All manuscripts submitted to the section will be considered. Manuscripts should be submitted
online at NPub.org/submit. Please direct any questions to rfsection@neurology.org.
PAST RECIPIENTS
2020 Award Winner 2017 Award Winner 2014 Award Winner
Right brain: Art and the restoration of Pearls & Oy-sters: Episodic ataxia type 2: Right Brain: A reading specialist with alexia
identity in dementia Case report and review without agraphia: Teacher interrupted
Bryan J. Neth, MD, PhD of the literature Jason Cuomo, MA; Murray Flaster,
Neurology 2019; 93:719-721 Elan L. Guterman, MD; MD, PhD; and José Biller, MD
Brian Yurgionas, MD, MS; and Neurology January 7, 2014, 82:e5-e7
2019 Award Winner Alexandra B. Nelson, MD, PhD
Emerging Subspecialties in Neurology: Neurology June 7, 2016, 86:23 e239-e241 2013 Award Winner
Pain medicine Clinical Reasoning: A 55-year-old woman
Nathaniel M. Schuster, MD, and
2016 Award Winner with vertigo: A dizzying conundrum
Jacob R. Hascalovici, MD, PhD Emerging Subspecialties in Neurology: Daniel R. Gold, DO, and
Telestroke and teleneurology Stephen G. Reich, MD
Neurology 2018;91;1025-1028
Sunil A. Mutgi, MD; Alicia M. Zha, MD; and Neurology October 23, 2012, 79:e146-e152
2018 Award Winner Reza Behrouz, DO
Clinical Reasoning: An 82-year-old man Neurology June 2, 2015, 84:22 e191-e193 2012 Award Winner
with worsening gait Child Neurology: Brachial plexus
2015 Award Winner birth injury: What every neurologist needs
Sheena Chew, MD; Ivana Vodopivec, MD,
PhD; and Aaron L. Berkowitz, MD, PhD Clinical Reasoning: An unusual cause to know
of transverse myelitis? Christina B. Pham, MD;
Neurology November 21, 2018,
89:21e246-e252 Pavan Bhargava, MD, and Johannes R. Kratz, MD;
Rodger J. Elble, MD, PhD Angie C. Jelin, MD;
Neurology February 11, 2014, 82: e46-e50 and Amy Gelfand, MD
Neurology August 16, 2011, 77:695-697
3
NEUROLOGY EDITORIAL TEAM, RESIDENT & FELLOW SECTION
Section Editor Editorial Team, Resident & Fellow Section
of Southern California (USC) and obtained her
medical degree from the Keck School of Medicine
of USC. Her research interests include investigating
neuroimaging biomarkers of neurodegenerative
diseases. She also has an interest in medical
education; she is engaged in the Medical Education
Fellowship Certificate Program in Innovations in
Curriculum Design at UCLA and has contributed to
the Neurology Minute daily briefing. She is also a
senior director for Camp Neuro, a summer day camp
Shashank Agarwal, MD Gianluca Costamagna, MD for high school students interested in careers in
medicine and neuroscience. Her hobbies include
Shashank Agarwal is an adult neurology resident Gianluca Costamagna is a neurology resident
creative writing, shao-lin kung fu, and playing viola
at NYU Langone Health-Brooklyn. He received his at the University of Milan, Ospedale Maggiore
Roy E. Strowd, MD, MEd, and ukulele. After residency, she will remain at
medical degree from Kasturba Medical College, Policlinico, Italy. During medical school, he studied
UCLA to pursue a fellowship in movement disorders,
MS, FAAN Manipal University, in India. Prior to starting his for one year in Bonn, Germany, while completing
with a particular interest in deep brain stimulation
neurology residency, he worked as a research his medical degree at the University of Pavia, Italy.
Roy Strowd, associate professor of neurology and neuromodulation.
scientist at the Marlene and Paolo Fresco Institute Prior to neurology residency, he was awarded the
and oncology, is a neurologist, neuro-oncologist, for Parkinson and Movement Disorders at NYU Armenise Harvard Summer Fellowship and worked
educator, and clinical trialist at the Wake Langone Health. During residency, Shashank at Weiner’s lab, Harvard Medical School and
Forest Baptist Medical Center. He graduated developed interest particularly in caring for Brigham and Women’s Hospital, investigating the
magna cum laude from Duke University in neurovascular and neuro-critical care patients. role of microbiota in modulating multiple sclerosis
2005, received his MD degree from the Wake He is actively engaged in research projects with in mice. Gianluca truly enjoys medical education,
Forest School of Medicine in 2009, and then mechanism of stroke treatments and headache having served as a microbiology, tropical medicine,
residency and chief residency in 2013. He is management in subarachnoid hemorrhage patients. and human physiology teaching assistant in
a nationally recognized clinical researcher in Shashank is passionate about medical education medical school. As a neurology resident, he
neuro-oncology, having completed fellowship and enjoys teaching medical students and residents. has broad research interests within the field
training in the Neuro-Oncology Program Outside of medicine, Shashank loves photography of neuromuscular disorders, with emphasis on
at Johns Hopkins and a Master of Science and enjoys cooking and kayaking in his free time. motor neuron diseases and stem cell-based 3D
through the Wake Forest Graduate School models of amyotrophic lateral sclerosis. Outside Robert Hurford, MSc, MRCP
of Arts and Science. He conducts phase 0, of neurology, Gianluca loves running, exploring Robert Hurford is a neurology resident at Cambridge
1, and 2 studies in neuro-oncology focusing Italian boroughs, and hiking in the Alps. University Hospital, UK. He graduated in medicine
on new drug development for patients with
from the University of Nottingham in 2011 followed
sporadic and inherited brain tumors, including
by a master’s in clinical neuroscience at the Institute
neurofibromatosis and tuberous sclerosis.
of Neurology, UCL. He has since pursued joint
He is a passionate educator and assistant
academic and clinical training, working with several
dean of undergraduate medical education
stroke research groups, including in Manchester,
at Wake Forest. He completed his Master of
Cambridge, and Paris. He is currently completing a
Education in the health professions through
DPhil (PhD) at the University of Oxford, funded by an
the Johns Hopkins School of Education where
Association of British Neurologists’ Clinical Research
he continues to teach as adjunct faculty. His
medical education interests includ leadership Mehdi Bouslama, MD Training Fellowship. His research interests include
clinical imaging, health economics and epidemiology
development, career development for educators, Mehdi Bouslama is an adult neurology resident of cerebrovascular disease. Outside work, he enjoys
and scholarly writing and peer review. He enjoys at Emory University. Originally from Tunisia, he Guillermo Delgado-García, MD, MSc long-distance running and learning languages.
each opportunity to mentor students, residents, completed medical school at Faculté de Medecine
fellows, and faculty in neurology. de Tunis. After graduation, he spent two years Guillermo Delgado-García is a clinical fellow in
working as a clinical research fellow at Grady epilepsy and EEG at the University of Calgary in
Deputy Editor Memorial Hospital in Atlanta investigating ways Canada. Originally from Mexico, he received his
to enlarge the scope of stroke endovascular medical degree with honors from the Universidad
therapies and developing new imaging paradigms Autónoma de Nuevo León. After graduating
and tools to improve stroke care systems, under medical school, Guillermo spent one year at the
the mentorship of Raul Nogueira, MD. His Instituto Nacional de Ciencias Médicas y Nutrición,
research interests include “big data”, AI, and Mexico, as a research assistant. He completed
machine learning in neuroimaging. After residency, residency in internal medicine at the UANL
Mehdi will pursue stroke and neuroendovascular University Hospital, and then in clinical neurology at
fellowships. In his spare time, he enjoys playing the Instituto Nacional de Neurología y Neurocirugía
the “oud,” tennis, exploring the Atlanta food in Mexico City. Guillermo earned a master's Katrina Ignacio, MD
scene, and spending time with his wife and son. degree in neurobiology and biotechnology at the Katrina Ignacio is an adult neurology resident at the
Université de Bordeaux, and recently completed Philippine General Hospital. She received her medical
a second master's degree, this time in medical degree from the University of the Philippines College of
sciences, at the Universidad Nacional Autónoma Medicine. Prior to pursuing residency, she was involved
de México. He is an Open Medical Institute Fellow in research projects focused on updating health policies
and was recently appointed as a Level-1 National for the public health insurance service in the Philippines.
Whitley Aamodt, MD, MPH Researcher by the National System of Researchers Her research interests include health service delivery
in Mexico. After fellowship, Guillermo plans to and stroke care while her clinical interests include
Whitley Aamodt is a second year Edmond J. pursue a career in academic neurology. Outside of
Safra Fellow in Movement Disorders at the vascular neurology and neurophysiology. Outside
medicine, he enjoys literature, cinema, amateur medicine, she enjoys practicing yoga, riding the waves
University of Pennsylvania. She graduated with genealogy, and spending time with his wife.
a degree in neuroscience from the College of on a wakeboard, and wall climbing.
William and Mary and completed dual degrees
in medicine and public health at the University Sarah Brooker, MD, PhD
of Texas School of Medicine at San Antonio. She Sarah Brooker is an adult neurology resident at
also completed her adult neurology residency Northwestern Memorial Hospital of Northwestern
at the University of Pennsylvania in 2019. University. She is originally from Minnesota and
Aamodt is currently the recipient of an NIH completed her undergraduate education at Yale
T32 grant in neuroepidemiology and recently University in 2010. She then joined the Medical
began a postdoctoral fellowship and master’s Scientist Training Program at Northwestern
degree program in clinical epidemiology (MSCE). where she earned her MD and PhD degrees. Her
She is passionate about medical education, PhD research focused on signaling pathways
global health, and the practice of neurology
in resource-limited settings. Her research
modulating adult hippocampal neurogenesis. Her Katherine Fu, MD Regan Jo Lemley, MD, MS
current research interests include investigating
interests also include topics in health care genetic and inflammatory mechanisms of Katherine Fu is an adult neurology resident at the Regan Lemley is an epilepsy fellow in neurology at
disparities, neurological outcomes, and end-of- neurodegenerative movement disorders. Outside of University of California, Los Angeles (UCLA). She Brigham and Women’s Hospital in Boston. Previously,
life care for patients with Parkinson’s disease medicine, she enjoys figure skating, spending time graduated with degrees in biological sciences she was a chief adult neurology resident at Wake
4 and related disorders. with family, and exploring the Chicago food scene. and neuroscience with honors from the University Forest School of Medicine. She graduated from
Southwestern University with a Bachelor of Science of Toronto working as a research fellow in epilepsy Hospital, Harvard University. Behnam has an Her research interests include Parkinson disease,
in biology and minor in philosophy, and she obtained genetics. Subsequently, he moved to Houston, TX, to established interest in brain aging and in particular dystonia, and the genetic epidemiology of
a master’s degree in medical sciences prior to train as an adult neurologist. Outside of neurology, the vascular contribution to brain structural and neurological illness. After residency, she plans to
attending medical school at Texas Tech SOM. She is Fábio enjoys listening and dancing to sertanejo (a functional integrity. After medical school he pursue a fellowship in movement disorders with an
passionate about neurology education and curriculum Brazilian music style), going to the movies, eating received a Master of Science in aging and vitality emphasis on neuromodulation and neurogenetics.
development, and her research interests include lots of sushi, and working out. and his PhD in clinical neuroscience from Leiden
exploring the influences of psychosocial factors and University in the Netherlands. He has been a
hormonal changes on epilepsy. Her hobbies include close collaborator with neuro-epidemiology
distance running, hiking, and embroidery. and population science lab at NIA/NIH and has
published more than 60 peer-reviewed papers
mainly through multi-disciplinary research projects.
Behnam is passionate about medical journalism
and evidence-based neurology practice and would
like to pursue his academic career in vascular
neurology with focuses on brain health and
cognitive brain aging.
Jens Witsch, MD
Jodie Roberts, MD, MSc Jens Witsch is an adult neurology resident at
Jodie Roberts is an adult neurology resident at the Yale University. He is originally from Freiburg,
Alexandria Melendez-Zaidi, University of Calgary in Canada. She is an alumnus of Germany, and studied medicine at the University
the Leaders in Medicine program at the University of of Heidelberg. Before graduating from medical
MD, PhD Calgary, where she completed a Master of Science school, he engaged in a one-year research thesis
Allie Melendez-Zaidi is a child neurology resident in epidemiology in conjunction with medical school. in electrophysiology at the Max Planck Institute
at Texas Children's Hospital and Baylor College of Upon completion of residency in 2022, she plans to for Medical Research in Heidelberg investigating
Medicine. Allie studied applied mathematics and specialize in multiple sclerosis and neuroimmunology. in-vivo neuronal physiology in an epilepsy mouse
microbiology at the University of Texas at El Paso She will complete a two-year clinical and research model. He then completed neurology residency
before moving to Chicago as a part of Northwestern's fellowship via a partnership between the University Daniel Talmasov, MD at the Charité in Berlin under the mentorship
Medical Scientist Training Program where she earned of Calgary and the University of Melbourne. Her of Matthias Endres, Christoph Ploner, and
research interests encompass analytics of real-world Daniel Talmasov completed a residency in Eric Jüttler, followed by a neurocritical care
MD and PhD degrees. In graduate school she studied
data to assess treatment and outcomes within psychiatry at Brigham and Women’s Hospital/ research fellowship in Jan Claassen’s group
microcircuitry and synaptic plasticity within the basal
the MS population. She additionally has a special Harvard Medical School and is now an adult at Columbia University. Jens is interested in
ganglia, with particular interest in interneurons of
interest on the impact of health-related behaviors neurology resident at New York University School of mechanisms leading to secondary injury as well as
the striatum and manifestations of diseases of this
(particularly exercise) on MS outcomes. Outside of Medicine. Daniel’s chief clinical interests lie at the prognostication after intracranial hemorrhages.
nucleus. Her current research interests are broad
medicine, she enjoys cycling, cross-country skiing, interface of neurology and psychiatry—particularly
and include channelopathies in genetic epilepsy
and hiking in the beautiful Rocky Mountains. improving treatment for patients with cases of
syndromes and neuroplasticity/rehabilitation in
neurologically-induced psychiatric symptoms, and
children after brain injury. Outside of medicine, she
in the diagnosis and treatment of patients suffering
spends time moving (dancing, running, soccer),
from comorbid neurologic and psychiatric processes.
reading, being outside, and practicing her pediatric
Daniel’s leading research interest is in lesional
exam skills on her two children. She is enthusiastic
neuropsychiatry— the study of how neurologic
about communicating with the neurology population
disease, e.g., stroke or neurodegenerative disease,
at large, grateful for the privilege to take care of
can disrupt brain networks critical to supporting
patients and families, and for her own health.
normal cognition and behavior, resulting in
behavioral, cognitive, or affective syndromes
that share features with “primary” or idiopathic Denise Xu, MD
psychiatric disorders, in hopes of identifying
testable circuit-level hypotheses pertinent to both Denise Xu is an adult neurology resident at
Jeffrey Russ, MD, PhD the University of Pennsylvania in Philadelphia.
psychiatric and neurobehavioral diseases. During
Jeff Russ is a child neurology fellow at the University of the course of his residency training, Daniel’s focus She graduated from Harvard University in 2011
California San Francisco. He graduated in 2008 with a has been on neurologic causes of mania, and on with a Bachelor’s degree in neurobiology and
Bachelor of Arts in Neuroscience from the University of lesion-induced auditory and visual hallucinations. completed her medical degree at the University
Pennsylvania. He then entered the Weill Cornell/Sloan Daniel also serves as assistant editor at the Harvard of Pennsylvania. She is passionate about medical
Kettering/Rockefeller University Tri-Institutional MD- Review of Psychiatry. In his free time, he enjoys live education and has been involved in direct
PhD Program, where he earned a PhD in neuroscience music, theater, ballet, traveling, hiking, and history. teaching and curriculum development efforts
Alisa Mo, MD, PhD in the laboratory of Dr. Julia Kaltschmidt at Sloan since college. Clinically, she is interested in
Alisa Mo is a child neurology resident at Boston Kettering. He studied how interneuron development neurohospitalist medicine. In her spare time,
Children's Hospital. She graduated from Cornell is affected by transcription factor expression, as well she enjoys perusing estate/garage sales and
University with a BA in biology and mathematics. as by injury to presynaptic circuit components via used bookstores, hiking, and accumulating new
She then completed her MD/PhD from Johns perinatal stroke. Jeff graduated with his MD and PhD hobbies. The latest: keeping an ever-growing
Hopkins University School of Medicine. Her PhD in 2016. He then completed pediatrics training at the collection of houseplants alive despite all odds.
research focused on identifying genome-wide University of California San Francisco and is currently
differences in DNA methylation and chromatin completing his child neurology fellowship. His research
modifications across subtypes of cortical neurons. and clinical interests include early neurodevelopment
Her clinical and research interests are in the area and circuit formation. He has authored multiple
of neurogenetics. Outside of medicine, Alisa enjoys research papers, editorials, and essays and is highly
hiking, cooking, and board games. committed to teaching and mentoring upcoming Adina Wise, MD
neurology and neuroscience trainees. Adina Wise is an adult neurology resident at Mount
Sinai Beth Israel, New York. As an undergraduate,
she studied comparative literature and philosophy
at NYU, where she went on to obtain a master’s
degree in creative writing and psychology. She
completed post-baccalaureate studies at Columbia Alonso G. Zea Vera, MD
University and earned her MD from Sidney Kimmel Alonso G. Zea Vera is a child neurology resident at
Medical College at Thomas Jefferson University. Cincinnati Children’s Hospital Medical Center. He
Adina is passionate about medical education; she received his medical degree from the Universidad
has spearheaded curriculum design and trainee Peruana Cayetano Heredia, Peru. His research
wellness initiatives throughout medical school interests include neurophysiology, movement
Fábio Nascimento, MD and residency, and has published several essays disorders, and cognitive neuroscience. Outside of
Behnam Sabayan, MD, PhD and editorials about medical training and the medicine, he enjoys playing soccer and spending
Fábio Nascimento is a EEG/Epilepsy Clinical Fellow
Behnam Sabayan is an adult neurology resident at practice of modern medicine. In 2019, she attended time with his dog.
at Massachusetts General Hospital-Harvard
Northwestern Memorial Hospital, Northwestern the Harvard Macy Program for Future Academic
Medical School. Originally from Brazil, he completed
University, Chicago. He will start his fellowship Clinician-Educators and currently serves on Mount
medical school at the Universidade Federal do
Paraná and then spent two years at the University in vascular neurology at Massachusetts General Sinai’s Graduate Medical Education Subcommittee. 5
Top 10 Ways Program Directors Can Use the
Resident & Fellow Section
By Alonso G. Zea Vera, MD, and Denise Xu, MD
Encourage your trainees to submit a blog commentary that Demonstrate exam and neuroimaging findings (virtually!).
shares their experiences with trainees and educators around Expand your trainees’ repertoire of bedside clinical and exam
the world. The Resident & Fellow Section (RFS) is interested skills. Teaching NeuroImages and Teaching Video NeuroImages
in showcasing trainees’ ideas and experiences. Our blog are brief case reports with an associated image or video. Cases
publishes commentaries from trainees on multiple topics, from feature classic presentations of uncommon disorders and rare
recently published articles to challenges during the COVID-19 manifestations of common conditions. In comparison to text-
pandemic. This platform allows trainees to express opinions and based instruction, these graphics allow learners to make their
ideas in a less formal and restrictive format. To submit an inquiry own observations and independently describe deficits before
for your commentary, email rfsection@neurology.org with a brief developing interpretations and differentials. Did we mention
description of the topic you will discuss. that the cases are easily accessible in PowerPoint format?
Encourage trainees to join our editorial team. Are your trainees Learn about new career paths in neurology. The field of
interested in the editorial process? Encourage them to join our neurology is expanding at a vertiginous rate with several new and
RFS editorial board. Annually we offer three-year positions to exciting subspecialties. Our subsection, Emerging Subspecialties
adult and pediatric neurology residents from around the world. in Neurology, highlights these new career options and provides
Team members peer review manuscripts, assist in writing and guidance to interested trainees. Our “Cortical Careers” project is
editing blogs, implement new projects for the section, and potentiating this effort. Listen to our episodes in the Neurology
participate in monthly conference calls. Keep an eye out for our Minute daily briefing, review our articles with your trainees, or
call for applications around May to June. If trainees are looking share your experience in a new area of neurology by submitting a
for a less time-consuming option, they can also apply to become manuscript to this section.
reviewers for the section.
Challenge your trainees with our polls. In addition to the
Send clinical pearls to your trainees. Residency and fellowship Neurology Question of the Day app and the AAN online
are busy times, but education remains the foundation of training. trivia sessions, the Resident & Fellow Section provides several
Our e-Pearls provide essential insight into a neurologic topic in opportunities to challenge yourself. Our Mystery Cases guide
fewer than 85 words. Incorporate information from these weekly readers through a case with an undisclosed diagnosis, revealing
submissions into daily rounds, or include the e-Pearls themselves new information as participants answer multiple-choice
in your email announcements to trainees. Pearls & Oysters questions. At the end, respondents can compare their answers
submissions also feature longer case vignettes that begin with a to those from people around the world. The answers are
list of clinical pearls and red flag “oy-sters” that are great for an summarized and published in the next issue of Neurology. We
email, Tweet, or communication to your trainees. also frequently post short polls on social media.
Learn and share new educational initiatives. The RFS publishes Write up a case with your trainees. The Resident & Fellow
new educational innovations and programs that you may want Section publishes educational case reports in several different
to implement in your program. Training in Neurology is an article formats, offering trainees an opportunity to engage with
type that highlights topics related to training neurologists at all academic writing. Explore our visual author guides
stages of their careers. From practical career guides to changes (Neurology.org/rf/author_guides) to quickly learn how to
in workflow precipitated by the COVID-19 pandemic, this structure submissions, avoid common pitfalls in writing, and
subsection provides a wide-ranging view of neurologic education increase the chance of publication. The Author Center includes a
and emphasizes how lessons and ideas can be translated to other more in-depth explanation of the requirements and expectations
institutions. Learn from these initiatives, and share your own. of each subsection. After submission, our team of trainee and
Find the submission guidelines on Neurology.org. faculty reviewers works hard to provide detailed feedback to
authors.
Discuss a teaching case with your trainees. The Resident &
Fellow Section publishes instructive cases from submissions Follow and engage with us on social media. To keep
around the world. Published cases are chosen for their significant up to date on the latest publications, find us on Twitter
teaching value or originality and provide an opportunity to (@GreenJournal), Instagram (@aanbrain), and Facebook
reinforce clinical reasoning skills. Our reviewers and editors (@AANResidentsandFellows), where we link to articles and
work with the authors to improve the educational value of studies from the Resident & Fellow Section, as well as news and
all cases in our section. Use our Clinical Reasoning and Child resources about the field of neurology as a whole. Look out for an
Neurology subsections to discuss the presentation, differential interesting Teaching NeuroImages case weekly and a challenging
diagnosis, and management of challenging patients. Also, clinical conundrum every other week. Share our posts using
explore two free PDF books with selected cases from the clinical #NeurologyRFS.
reasoning and child neurology sections on the RFS website.
6
Child Neurology
The Child Neurology section in the Resident & Fellow
Section of Neurology focuses on contemporary educational
issues in child neurology. The goal of the section is to
provide up-to-date reviews on important topics in child
neurology that are relevant to all neurologists, both adult
and child, particularly those still in their training. Examples
include management of acute stroke in children, childhood
demyelinating disease, neuroimaging in metabolic disorders,
and the neurobiology of autism. Each piece will begin with
a patient case, followed by a brief discussion about the
differential diagnosis and a detailed discussion about the
topic of focus. Submissions are welcome from residents and
fellows in either child or adult neurology. Ideally, submissions
will include the patient case as well as the discussion, but
submission of timely review articles without an accompanying
case will also be considered. In this situation, the editors of
this section may supply an appropriate patient case.
7
RESIDENT & FELLOW SECTION
Child Neurology: Genetically determined
dystonias with childhood onset
Travis Larsh, MD, Neil Friedman, MBChB, and Hubert Fernandez, MD Correspondence
Dr. Larsh
®
Neurology 2020;94:892-895. doi:10.1212/WNL.0000000000009040 larsht@ccf.org
A previously healthy 10-year-old girl of Croatian descent presented to the pediatric neurology
clinic with an abnormal gait. She first noted symptoms 1.5 years prior to presentation, which
included flexion–inversion posturing of her left foot while playing soccer. She would drag her
left foot, leading to excessive falling. Her family noted that she did not seem to have much
difficulty ambulating at the beginning of the day and they did not notice any abnormal pos-
turing of the foot when she woke up in the morning. However, by the evening, they noted her
left foot, and occasionally her right foot, would develop a flexion–inversion posture. Her
symptoms seemed to be worse when she was tired or after activity. She had previously been
evaluated by 2 orthopedic surgeons and a pediatric neurologist and was most recently seen in an
emergency department for this problem, with no diagnosis being provided. Workup included
a normal lumbar spine MRI and X-rays of both legs.
Physical examination was notable for subtle equinovarus posturing of the patient’s left foot only
but was otherwise unremarkable. There was no family history of dystonia or parkinsonism. She
was started on 100 mg/d of levodopa, with complete resolution of the dystonic posturing, and
she was able to return to playing sports without difficulty. A dystonia gene panel was sent and
revealed a heterozygous pathogenic variant in the GTP cyclohydrolase 1 gene (GCH1), di-
agnostic of DYT5a (Segawa disease), a form of autosomal dominant dopa-responsive dysto-
nia (DRD).
Differential diagnosis
Dramatic and sustained response to low doses of levodopa distinguishes DRD from the other
genetic dystonias (including DYT1) and other conditions such as cerebral palsy and he-
reditary spastic paraplegias. Other DRDs, including DYT-5b and DYT-SPR, tend to present
earlier and have a more severe phenotype in comparison to DYT-5a. Early-onset Parkinson
disease (PD) (PINK1, PRKN) can also initially present as gait disturbance due to foot
dystonia. Development of motor fluctuations and dyskinesias from chronic levodopa therapy
would be atypical in DRD, which can be helpful in distinguishing from PD. Improvement with
sleep may be seen in early-onset PD, but typically not as dramatic or sustained as in DRD.
Genetic testing is widely available to confirm the diagnosis of the most common forms of
genetic dystonias.
Discussion
The term dystonia was first used in 1911 by Hermann Oppenheim in “About a peculiar
cramping sickness in children and adolescents (dysbasia lordotica progressive, dystonia mus-
culorum deformans).”1 Even in this early description, there was speculation of a genetic eti-
ology.1 The first dystonia gene was discovered in 1994 (GCH1), and since then numerous
dystonia genes have been identified.2 There are 14 confirmed genetic forms that have typical
childhood onset (table). Recently, classification of genetic dystonia by inheritance pattern or
associated features (isolated dystonia [i.e., simple vs combined] with another movement
From the Centers for Pediatric Neurology (T.L., N.F.) and Neurological Restoration (H.F.), Neurological Institute, Cleveland Clinic, OH.
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
8
892 Copyright © 2020 American Academy of NeurologyTable Genetically determined dystonia (DYT) with typical childhood onset
Symbol Gene Gene locus Inheritance Phenotype Comments
DYT1 TOR1A 9q32-q34 AD Early-onset generalized dystonia Most common
Ashkenazi Jewish
Good response to GPi DBS
DYT5a GCH1 14q22.1-22.2 AD Dopa-responsive dystonia Clinical case
DYT5b TH 11p15.5 AR Dopa-responsive dystonia More severe phenotype than DYT5a
— SPR 2p14-p12 AR Dopa-responsive dystonia More severe phenotype than DYT5a
DYT6 THAP1 8p11.1 AD Adolescent onset mixed phenotype Later age at onset than DYT1
Prominent cranial involvement
DYT8 MR1 2q35 AD Paroxysmal nonkinesigenic dyskinesia 1
DYT10 PRRT2 16p11.2- AD Paroxysmal kinesigenic dyskinesia
q12.1
DYT11 SGCE 7q21.3 AD Myoclonus-dystonia Responsive to alcohol
DYT12 ATP1A3 19q13.2 AD Rapid onset dystonia-parkinsonism Poor response to levodopa and DBS
DYT18 SLC2A1 1p34.2 AD Paroxysmal exertion-induced dyskinesia
2
DYT26 KCTD17 22q12.3 AD Myoclonus-dystonia Dystonia more disabling than DYT11
DYT28 KMT2B 19q13.12 AD Generalized dystonia Prominent cranial, cervical, and laryngeal
involvement
— ADCY5 3q21.1 AD Chorea, dystonia, and myoclonus Diurnal paroxysms
— GNAO1 16q13 AD Hyperkinetic movement disorder Good response to GPi DBS
Abbreviations: AD = autosomal dominant; AR = autosomal recessive; DBS = deep brain stimulation; GPi = globus pallidus pars interna.
disorder [i.e., complex]) has been proposed.3 What follows is Combined dystonias
a concise review of known genetically determined dystonias
with typical onset in childhood, organized by associated Dystonia with parkinsonism
features. DYT5a is a result of a heterozygous mutation in the GCH1
gene. Most individuals with DYT5a present in childhood with
Isolated dystonias gait disturbance due to lower extremity dystonia, often a rigid
DYT1 is the most common hereditary dystonia. It is pes equinovarus deformity of 1 foot, such as the patient in the
inherited in an autosomal dominant fashion, with reduced case presentation. The dystonia spreads to involve other limbs
penetrance and variable expressivity. It is particularly and the trunk muscles by the teenage years and patients may
common among patients of Ashkenazi Jewish descent. develop parkinsonian features.4 In rare cases, parkinsonian
Symptoms typically start before 6 years of age as a focal features may be the only sign of the condition.2 Early in the
dystonia in an extremity (more often lower extremity), with course, symptoms show a diurnal fluctuation, with symptoms
spread to other extremities and trunk muscles by the early becoming worse over the course of a day and improving with
teens.4 The face and neck are not typically involved.2 sleep.4 Symptoms become static by early adulthood. There is
Whereas pharmacologic therapies, including levodopa and a female predominance, with possibly a higher prevalence in
anticholinergic drugs, may show variability in therapeutic patients of Eastern European descent. DYT5a is exquisitely
benefit, deep brain stimulation (DBS) of the globus pallidus responsive to levodopa therapy, with a complete, or near
pars interna (GPi) has more consistently produced favor- complete, response of symptoms at relatively low doses.
able outcomes.5 Despite being a highly treatable medical condition, there is
often considerable diagnostic delay of about 13 years.2
DYT6 shares some similarities with DYT1, but tends to have
a later age at onset (average age at onset 19 years), and has DYT5b and DYT-SPR are both inherited in an autosomal
prominent cranial involvement.2 Dysphonia is often a prom- recessive fashion (SPR gene mutations can be inherited in an
inent feature. Treatment is similar to DYT1, with the caveat autosomal dominant manner as well, although less commonly).
that GPi DBS has marginal effect on speech.6 As DRDs, they are exquisitely responsive to levodopa. These
Neurology.org/N Neurology | Volume 94, Number 20 | May 19, 2020 893 9
Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.disorders often have a much more severe phenotype re- ADCY5-related dyskinesia presents as a childhood-onset hy-
sembling homozygous GCH1 mutations, and may manifest as perkinetic movement disorder featuring a combination of cho-
an infantile movement disorder with developmental delay.7 rea, myoclonus, and dystonia.10 Distinguishing features include
diurnal paroxysms with nocturnal attacks of chorea and dysto-
DYT12 is due to a mutation in the ATP1A3 gene, and is nia.10 Treatment with clonazepam or clobazam may be helpful.11
inherited in an autosomal dominant pattern with reduced
penetrance. It typically presents in teenagers or young adults In addition to an epileptic encephalopathy, mutations in the
with rapid-onset dystonia-parkinsonism (RDP). This is GNAO1 gene can cause a childhood-onset progressive
characterized by a sudden onset (hours to weeks) of dystonic movement disorder. Described phenotypic features include
spasms (usually the upper limbs), orofacial dystonia, and chorea, athetosis, dystonia, myoclonus, and stereotypies.12
bulbar symptoms, and is sometimes accompanied by parkin- GPi DBS appears to be the most effective treatment for
sonian features.2 It is often triggered by stressful events such GNAO1-related movement disorders.13
as fever, prolonged exercise, or childbirth. Levodopa and DBS
are not beneficial. In addition to RDP, mutations in ATP1A3 Dystonia with myoclonus
are also known to cause alternating hemiplegia of childhood DYT11 involves a mutation in the SGCE gene causing
and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, myoclonus-dystonia syndrome (MDS). Inheritance may in-
optic atrophy, and sensorineural hearing loss).8 volve maternal imprinting as paternal inheritance results in
almost 100% symptom expression and maternal inheritance
Dystonia with other dyskinetic movements only results in 10%.14 Symptoms typically begin in childhood
Paroxysmal nonkinesigenic dyskinesia (DYT8) is caused by 2 or early adolescence and consist of myoclonus and dystonia
missense mutations in the myofibrillogenesis regulator 1 that preferentially involves the upper body. Treatment is with
(MR1) gene. There is a 2:1 female predominance, and average valproate and benzodiazepines. DBS has been consistently
age at onset is 4 years. Symptoms include attacks consisting of reported to improve both myoclonus and dystonia in DYT11.
a combination of dystonia and chorea. Attacks last from There are reports that γ-hydroxybutyrate may be helpful.14
minutes to hours, but may occur a few times daily in severe Symptoms are also very responsive to alcohol, which can lead
cases.2 Attacks may be precipitated by alcohol, caffeine, stress, to dependence in adults.
hunger, fatigue, and tobacco. The frequency of attacks tends
to decrease with age. Management involves avoidance of DYT26 is a more recently described cause of MDS that is
precipitating factors; clonazepam may also be beneficial. a result of heterozygous mutations in the KCTD17 gene.
Range of onset is 3–10 years.15 Differentiating factors from
The inherited form of paroxysmal kinesigenic dyskinesia DYT11 include that the myoclonus associated with DYT26
(PKD, DYT10) is caused by missense and truncating muta- tends to be less pronounced in the neck and upper extremi-
tions in the PRRT2 gene.2 Age at onset is between 5 and 15 ties, and the dystonia tends to be more disabling.15 There is no
years, and boys are more commonly affected. Attacks consist improvement with alcohol. GPi DBS may be beneficial.15
of combinations of dystonia and chorea lasting a few seconds
to minutes, during voluntary movements, several times daily. Study funding
They are precipitated by startle or making a sudden voluntary No targeted funding reported.
movement after a period of rest. PKD responds well to car-
bamazepine, phenytoin, levetiracetam, and phenobarbital. Disclosure
Attacks diminish with age regardless of treatment. T. Larsh and N. Friedman report no disclosures relevant to
the manuscript. H. Fernandez has received honoraria from
Mutations in the SLC2A1 gene can cause paroxysmal Prime Education, Inc., International Parkinson and Move-
exertion-induced dyskinesias (DYT18). Attacks consisting of ment Disorders Society, Carling Communications, Medscape
dystonia, chorea, and athetosis are triggered by sustained (speaker in CME events), AbbVie, Biogen, GE Health Care,
exercise. Attacks typically last 5–30 minutes. Management Inventiv, Kyowa Hakko Kirin, Lundbeck, Merz Pharmaceut-
involves avoidance of prolonged exercise. Ketogenic diet may icals, Voyager, Sunovion, and Pfizer Pharmaceuticals (as
also be helpful. a consultant); has received grant and research support from
AbbVie, Acadia, Teva, Biotie/Acorda Therapeutics, Civitas,
KMT2B-related dystonia (DYT28) is characterized by a pro- Kyowa/Prostrakan, Michael J. Fox Foundation, Movement
gressive disease course that evolves from a focal lower limb Disorders Society, NIH/NINDS, Parkinson Study Group,
dystonia into a generalized dystonia with prominent cervical, Rhythm, and Synosia; has no owner interest in any pharma-
cranial, and laryngeal involvement.9 Mean age at onset is 7 ceutical company; has received royalties from Demos Pub-
years. Additional features include developmental delay, lishing (serving as a book author/editor); The Cleveland
choreoathetosis, myoclonus, seizures, eye movement abnor- Clinic has a contract with Teva for his role as a co–principal
malities, psychiatric comorbidities, spasticity, and sensori- investigator in SD-809 tardive dyskinesia global studies;
neural hearing loss. GPi DBS may be beneficial, particularly in serves as a member of the publication committee for Acorda
younger patients.9 Pharmaceuticals but does not receive any personal
10894 Neurology | Volume 94, Number 20 | May 19, 2020 Neurology.org/N
Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.compensation for this; and receives a stipend from the In- 2. Klein C. Genetics in dystonia. Parkinsonism Relat Disord 2014;20(suppl 1):
S137–S142.
ternational Parkinson and Movement Disorders Society for 3. Marras C, Lohmann K, Lang A, Klein C. Fixing the broken system of genetic locus
serving as Medical Editor of the MDS Web Site. Go to symbols. Neurology 2012;78:1016–1024.
4. Segawa M, Nomura Y. Genetics and pathophysiology of primary dystonia with special
Neurology.org/N for full disclosures. emphasis on DYT1 and DYT5. Semin Neurol 2014;34:306–311.
5. Hale AT, Monsour MA, Rolston JD, Naftel RP, Englot DJ. Deep brain stimulation in
pediatric dystonia: a systematic review. Neurosurg Rev Epub 2018 Nov 5.
6. Groen JL, Ritz K, Contarino MF, et al. DYT6 dystonia: mutation screening, phe-
Appendix Authors notype, and response to deep brain stimulation. Mov Disord 2010;25:2420–2427.
7. Willemsen MA, Verbeek MM, Kamsteeg EJ, et al. Tyrosine hydroxylase deficiency:
Name Location Contribution a treatable disorder of brain catecholamine biosynthesis. Brain 2010;133:1810–1822.
8. Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological
Travis Larsh, Cleveland Design and conceptualization of phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-
MD Clinic, OH manuscript, drafting and revision of onset dystonia-parkinsonism, CAPOS and beyond. Pediatr Neurol 2015;52:56–64.
manuscript 9. Abela L, Kurian MA. KMT2B-related dystonia. In: Adam MP, Ardinger HH, Pagon
RA, et al, eds. GeneReviews. Seattle: University of Washington; 1993.
Neil Cleveland Drafting and revision of manuscript 10. Carecchio M, Mencacci NE, Iodice A, et al. ADCY5-related movement disorders:
Friedman, Clinic, OH frequency, disease course and phenotypic variability in a cohort of paediatric patients.
MBChB Parkinsonism Relat Disord 2017;41:37–43.
11. Chang FCF, Westenberger A, Dale RC, et al. Phenotypic insights into ADCY5-
Hubert Cleveland Drafting and revision of manuscript associated disease. Mov Disord 2016;31:1033–1040.
Fernandez, Clinic, OH 12. Dhamija R, Mink JW, Shah BB, Goodkin HP. GNAO1-associated movement disor-
MD der. Mov Disord Clin Pract 2016;3:615–617.
13. Feng H, Khalil S, Neubig RR, Sidiropoulos C. A mechanistic review on GNAO1-
associated movement disorder. Neurobiol Dis 2018;116:131–141.
14. Mink JW, Sanger TD. Movement disorders: an overview. In: Swaiman’s Pediatric
References Neurology: Principles and Practice, 6th ed. Philadelphia: Elsevier; 2017.
1. Klein C, Fahn S. Translation of Oppenheim’s 1911 paper on dystonia [“About a pe- 15. Mencacci NE, Brüggemann N. KCTD17 is a confirmed new gene for dystonia, but is it
culiar cramping sickness in children and adolescents (dysbasia lordotica progressive, responsible for SGCE-negative myoclonus-dystonia? Parkinsonism Relat Disord
dystonia musculorum deformans”)]. Mov Disord 2013;28:851–862. 2019;61:1–3.
COVID-19 and Neurologic Disease: Call for Papers!
The editors of Neurology are interested in papers that address the neurological aspects of COVID-19
infection and challenges to the management of patients with chronic neurological conditions who
have, or are at risk for, the infection. Relevant papers that pass initial internal review will undergo
expedited peer review and online publication. We will consider papers posted in preprint servers.
Submit observational studies and clinical trials as Articles and case series and case reports under
the Clinical/Scientific Notes category to https://submit.neurology.org/ today!
Call for Voices: Lived Experiences
Disputes & Debates: Rapid online correspondence
The Editors of the Neurology specialty site Equity, Diversity, & Inclusion encourage you to submit short first-person accounts
The (1,000
editorswords
encourage
or less)comments on recent
of experiences articles
lived within thethrough
realm of Disputes & Debates:
equity, diversity, and inclusion (EDI) with the goal of informing
and enlightening our community on these critical issues. Some topics to consider include, but are not limited to:
Access an article at Neurology.org/N and click on “COMMENT” beneath the article header.
• Descriptions of personal experiences that shaped your views of EDI.
Responses will be posted
• Reflections within three
on the intersection business
between days.
personal identity and career.
Discussions aatcomment
Before•submitting the intersection of EDI &
to Disputes andDebates,
neurologyremember
patient care,
theresearch, education, advocacy, or policy.
following:
• Submit your &
Disputes contributions
Debates is torestricted
journal@neurology.org
to commentsand include
about studies Submission”
published
“Voices in the subject
in Neurology line.the last eight weeks
within
• Read previously posted comments; redundant comments will not be posted
• Your submission must be 200 words or less and have a maximum of five references; reference one must be the
article on which you are commenting
• You can include a maximum of five authors (including yourself)
Neurology.org/N Neurology | Volume 94, Number 20 | May 19, 2020 11
895
Copyright © 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.You can also read
