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Annals of Neurology: Volume 89, Number 2, February 2020
doi : 10.1002/ana.26006
Volume89, Issue2,February 2021,Pages C1-C1
An intraoperative Laser Speckle Imaging (LSI) perfusion map of the left hemisphere of a living human brain (frontal lobe to the left, occipital lobe to the right) at a mean arterial pressure of 72 mmHg during hemicraniectomy. By adjusting blood pressure pharmacologically, LSI can visualize changes in cerebral perfusion and its autoregulation. See Hecht et al. pp 358–368 in this issue.
A Transcriptome?Based Drug Discovery Paradigm for Neurodevelopmental Disorders
Ryan S. Dhindsa PhD,Anthony W. Zoghbi MD,Daniel K. Krizay MS,Chirag Vasavda BS,David B. Goldstein PhD
doi : 10.1002/ana.25950
Volume89, Issue2,February 2021,Pages 199-211
Advances in genetic discoveries have created substantial opportunities for precision medicine in neurodevelopmental disorders. Many of the genes implicated in these diseases encode proteins that regulate gene expression, such as chromatin?associated proteins, transcription factors, and RNA?binding proteins. The identification of targeted therapeutics for individuals carrying mutations in these genes remains a challenge, as the encoded proteins can theoretically regulate thousands of downstream targets in a considerable number of cell types. Here, we propose the application of a drug discovery approach originally developed for cancer called “transcriptome reversal” for these neurodevelopmental disorders. This approach attempts to identify compounds that reverse gene?expression signatures associated with disease states. ANN NEUROL 2021;89:199–211
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)
David R. Lynch MD, PhD,Melanie P. Chin PhD,Martin B. Delatycki MD, PhD,S. H. Subramony MD,Manuela Corti PT, PhD,J. Chad Hoyle MD,Sylvia Boesch MD,Wolfgang Nachbauer PhD,Caterina Mariotti MD,Katherine D. Mathews MD,Paola Giunti MD, PhD,George Wilmot MD, PhD,Theresa Zesiewicz MD,Susan Perlman MD,Angie Goldsberry MS,Megan O'Grady PhD,Colin J. Meyer MD
doi : 10.1002/ana.25934
Volume89, Issue2,February 2021,Pages 212-225
Friedreich ataxia (FA) is a progressive genetic neurodegenerative disorder with no approved treatment. Omaveloxolone, an Nrf2 activator, improves mitochondrial function, restores redox balance, and reduces inflammation in models of FA. We investigated the safety and efficacy of omaveloxolone in patients with FA.
Neocortical Slow Oscillations Implicated in the Generation of Epileptic Spasms
Chih?Hong Lee MD, PhD,John T. Le BS,Carlos J. Ballester?Rosado PhD,Anne E. Anderson MD,John W. Swann PhD
doi : 10.1002/ana.25935
Volume89, Issue2,February 2021,Pages 226-241
Epileptic spasms are a hallmark of severe seizure disorders. The neurophysiological mechanisms and the neuronal circuit(s) that generate these seizures are unresolved and are the focus of studies reported here.
Association between Migraine and Cryptogenic Ischemic Stroke in Young Adults
Nicolas Martinez?Majander MD,Ville Artto MD, PhD,Pauli Ylikotila MD,Bettina von Sarnowski MD, PhD,Ulrike Waje?Andreassen MD, PhD,Nilufer Yesilot MD,Marialuisa Zedde MD, PhD,Juha Huhtakangas MD, PhD,Heikki Numminen MD, PhD,Pekka J?k?l? MD, PhD,Ana C. Fonseca MD, PhD,Petra Redfors MD, PhD,Marieke J. H. Wermer MD, PhD,Alessandro Pezzini MD,Jukka Putaala MD, PhD,the SECRETO Study Group
doi : 10.1002/ana.25937
Volume89, Issue2,February 2021,Pages 242-253
To assess the association between migraine and cryptogenic ischemic stroke (CIS) in young adults, with subgroup analyses stratified by sex and presence of patent foramen ovale (PFO).
Socioeconomic Status Mediates Racial Differences Seen Using the AT(N) Framework
Karin L. Meeker PhD,Julie K. Wisch PhD,Darrell Hudson PhD,Dean Coble PhD,Chengjie Xiong PhD,Ganesh M. Babulal PhD, OTD,Brian A. Gordon PhD,Suzanne E. Schindler MD, PhD,Carlos Cruchaga PhD,Shaney Flores BS,Aylin Dincer BA,Tammie L. Benzinger MD, PhD,John C. Morris MD,Beau M. Ances MD, PhD
doi : 10.1002/ana.25948
Volume89, Issue2,February 2021,Pages 254-265
African Americans are at greater risk for developing Alzheimer's disease (AD) dementia than non?Hispanic whites. In addition to biological considerations (eg, genetic influences and comorbid disorders), social and environmental factors may increase the risk of AD dementia. This paper (1) assesses neuroimaging biomarkers of amyloid (A), tau (T), and neurodegeneration (N) for potential racial differences and (2) considers mediating effects of socioeconomic status (SES) and measures of small vessel and cardiovascular disease on observed race differences.
Association between Computed Tomographic Biomarkers of Cerebral Small Vessel Diseases and Long?Term Outcome after Spontaneous Intracerebral Hemorrhage
Mark A. Rodrigues FRCR, PhD,Neshika E. Samarasekera MRCP, PhD,Christine Lerpiniere RGN,Luke A. Perry MBBS,Tom J. Moullaali MBBS, MRCP,James J.M. Loan MRCS, MSc,Joanna M. Wardlaw FRCR, MD,Rustam Al?Shahi Salman MA PhD FRCPEdin FESO,for the Lothian Audit of the Treatment of Cerebral,Haemorrhage Collaborators
doi : 10.1002/ana.25949
Volume89, Issue2,February 2021,Pages 266-279
A study was undertaken to assess whether cerebral small vessel disease (SVD) computed tomographic (CT) biomarkers are associated with long?term outcome after intracerebral hemorrhage.
Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy
Yvan de Feraudy MD,Rabah Ben Yaou MD,Karim Wahbi MD, PhD,Caroline Stalens MSc,Amalia Stantzou PhD,Vincent Laugel MD, PhD,Isabelle Desguerre MD, PhD,for the FILNEMUS Network,Laurent Servais MD, PhD,France Leturcq MD,Helge Amthor MD, PhD
doi : 10.1002/ana.25951
Volume89, Issue2,February 2021,Pages 280-292
This study was undertaken to determine whether a low residual quantity of dystrophin protein is associated with delayed clinical milestones in patients with DMD mutations.
Timeline of Rapid Eye Movement Sleep Behavior Disorder in Overt Alpha?Synucleinopathies
Cole D. Stang,Aidan F. Mullan MA,Mania Hajeb MD,Emanuele Camerucci MD,Pierpaolo Turcano MD,Peter Martin MS,Michelle M. Mielke PhD,Keith A. Josephs MD,James H. Bower MD,Erik K. St Louis MD, MS,Bradley F. Boeve MD,Rodolfo Savica MD, PhD
doi : 10.1002/ana.25952
Volume89, Issue2,February 2021,Pages 293-303
The aim was to analyze the timeline, prevalence, and survival of rapid eye movement (REM) sleep behavior disorder (RBD) in patients who developed alpha?synucleinopathies (Parkinson disease, dementia with Lewy bodies, and Parkinson disease dementia) compared with age? and sex?matched controls in a population?based incident?cohort study.
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial
Katarzyna Kotulska MD, PhD,David J. Kwiatkowski MD, PhD,Paolo Curatolo MD, PhD,Bernhard Weschke MD, PhD,Kate Riney MD, PhD,Floor Jansen MD, PhD,Martha Feucht MD, PhD,Pavel Krsek MD, PhD,Rima Nabbout MD, PhD,Anna C. Jansen MD, PhD,Konrad Wojdan PhD,Kamil Sijko MA,Jagoda G?owacka?Walas MSc,Julita Borkowska MD,Krzysztof Sadowski MD, PhD,Dorota Doma?ska?Pakie?a MD, PhD,Romina Moavero PhD,Christoph Hertzberg MD,Hanna Hulshof MD,Theresa Scholl MD,Barbora Benova MD,Eleonora Aronica PhD,Jessie de Ridder PhD,Lieven Lagae MD, PhD,Sergiusz J??wiak MD, PhD,the EPISTOP Investigators
doi : 10.1002/ana.25956
Volume89, Issue2,February 2021,Pages 304-314
Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant to medication. Recently, the concept of preventive antiepileptic treatment to modify the natural history of epilepsy has been proposed. EPISTOP was a clinical trial designed to compare preventive versus conventional antiepileptic treatment in TSC infants.
Network Fingerprint of Stimulation?Induced Speech Impairment in Essential Tremor
Jan Niklas Petry?Schmelzer MD,Hannah Jergas MD,Tabea Thies MA,Julia K. Steffen MD,Paul Reker MD,Haidar S. Dafsari MD,Doris Mücke PhD,Gereon R. Fink MD,Veerle Visser?Vandewalle MD,Till A. Dembek MD,Michael T. Barbe MD
doi : 10.1002/ana.25958
Volume89, Issue2,February 2021,Pages 315-326
This study was undertaken to gain insights into structural networks associated with stimulation?induced dysarthria (SID) and to predict stimulation?induced worsening of intelligibility in essential tremor patients with bilateral thalamic deep brain stimulation (DBS).
A Pilot Randomized, Controlled, Double?Blind Trial of Bumetanide to Treat Neonatal Seizures
Janet S. Soul MDCM,Ann M. Bergin MBChB,Christian Stopp MS,Breda Hayes MD,Avantika Singh MD,Carmen R. Fortuno MD,Deirdre O'Reilly MD, MPH,Kalpathy Krishnamoorthy MD,Frances E. Jensen MD,Valerie Rofeberg ScM,Min Dong PhD,Alexander A. Vinks PhD, PharmD,David Wypij PhD,Kevin J. Staley MDfor the Boston Bumetanide Trial Group
doi : 10.1002/ana.25959
Volume89, Issue2,February 2021,Pages 327-340
In the absence of controlled trials, treatment of neonatal seizures has changed minimally despite poor drug efficacy. We tested bumetanide added to phenobarbital to treat neonatal seizures in the first trial to include a standard?therapy control group.
A Prodromal Brain?Clinical Pattern of Cognition in Synucleinopathies
Shady Rahayel PhD,Ronald B. Postuma MD,Jacques Montplaisir MD,Bratislav Mi?i? PhD,Christina Tremblay PhD,Andrew Vo PhD,Simon Lewis MD,Elie Matar MD,Kaylena Ehgoetz Martens PhD,Frédéric Blanc MD,Chun Yao MSc,Julie Carrier PhD,Oury Monchi PhD,Malo Gaubert MS,Alain Dagher MD,Jean?François Gagnon PhD
doi : 10.1002/ana.25962
Volume89, Issue2,February 2021,Pages 341-357
Isolated (or idiopathic) rapid eye movement sleep behavior disorder (iRBD) is associated with dementia with Lewy bodies (DLB) and Parkinson's disease (PD). Biomarkers are lacking to predict conversion to a dementia or a motor?first phenotype. Here, we aimed at identifying a brain?clinical signature that predicts dementia in iRBD.
Perfusion?Dependent Cerebral Autoregulation Impairment in Hemispheric Stroke
Nils Hecht MD,Max Schrammel MD,Konrad Neumann PhD,Marc?Michael Müller MD,Jens P. Dreier MD,Peter Vajkoczy MD,Johannes Woitzik MD
doi : 10.1002/ana.25963
Volume89, Issue2,February 2021,Pages 358-368
Loss of cerebral autoregulation (CA) plays a key role in secondary neurologic injury. However, the regional distribution of CA impairment after acute cerebral injury remains unclear because, in clinical practice, CA is only assessed within a limited compartment. Here, we performed large?scale regional mapping of cortical perfusion and CA in patients undergoing decompressive surgery for malignant hemispheric stroke.
Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure
Sindhu Ramchandren MD, MS,Tong Tong Wu PhD,Richard S. Finkel MD,Carly E. Siskind MS,Shawna M. E. Feely MS,Joshua Burns PhD,Mary M. Reilly MD,Timothy Estilow OT,Michael E. Shy MD,Childhood CMT Study Group
doi : 10.1002/ana.25966
Volume89, Issue2,February 2021,Pages 369-379
Charcot–Marie–Tooth disease (CMT) reduces health?related quality of life (QOL), especially in children. Defining QOL in pediatric CMT can help physicians monitor disease burden clinically and in trials. We identified items pertaining to QOL in children with CMT and conducted validation studies to develop a pediatric CMT?specific QOL outcome measure (pCMT?QOL).
The Impact of SARS?CoV?2 on Stroke Epidemiology and Care: A Meta?Analysis
Aristeidis H. Katsanos MD,Lina Palaiodimou MD,Ramin Zand MD,Shadi Yaghi MD,Hooman Kamel MD,Babak B. Navi MD, MS,Guillaume Turc MD,Michele Romoli MD,Vijay K. Sharma MD,Dimitris Mavridis MD,Shima Shahjouei MD,Luciana Catanese MD,Ashkan Shoamanesh MD,Konstantinos Vadikolias MD,Konstantinos Tsioufis MD,Pagona Lagiou MD,Andrei V. Alexandrov MD,Sotirios Tsiodras MD,Georgios Tsivgoulis MD
doi : 10.1002/ana.25967
Volume89, Issue2,February 2021,Pages 380-388
Emerging data indicate an increased risk of cerebrovascular events with severe acute respiratory syndrome coronavirus 2 (SARS?CoV?2) and highlight the potential impact of coronavirus disease (COVID?19) on the management and outcomes of acute stroke. We conducted a systematic review and meta?analysis to evaluate the aforementioned considerations.
Diagnostic Accuracy of Amyloid versus 18F?Fluorodeoxyglucose Positron Emission Tomography in Autopsy?Confirmed Dementia
Orit H. Lesman?Segev MD,Renaud La Joie PhDLeonardo Iaccarino PhD,Iryna Lobach PhD,Howard J. Rosen MD,Sang Won Seo MD,Mustafa Janabi PhD,Suzanne L. Baker PhD,Lauren Edwards BS,Julie Pham BS,John Olichney MD,Adam Boxer MD,Eric Huang MD,Marilu Gorno?Tempini MD,Charles DeCarli MD,Mackenzie Hepker BS,Ji?Hye L. Hwang PhD,Bruce L. Miller MD,Salvatore Spina MD,Lea T. Grinberg MD,William W. Seeley MD,William J. Jagust MD,Gil D. Rabinovici MD
doi : 10.1002/ana.25968
Volume89, Issue2,February 2021,Pages 389-401
The purpose of this study was to compare the diagnostic accuracy of antemortem 11C?Pittsburgh compound B (PIB) and 18F?fluorodeoxyglucose (FDG) positron emission tomography (PET) versus autopsy diagnosis in a heterogenous sample of patients.
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS
Laure Mazzola MD, PhD,Karen L. Oliver MSc,Audrey Labalme MSc,Betül Baykan MD,Mikko Muona PhD,Tarja H. Joensuu PhD,Carolina Courage MD,Nicolas Chatron MD, PhD,Giuseppe Borsani PhD,Eudeline Alix MSc,Francis Ramond MD, PhD,Renaud Touraine MD, PhD,Melanie Bahlo PhD,Nerses Bebek MD, PhD,Samuel F. Berkovic MD, FRS,Anna?Elina Lehesjoki MD, PhD,Gaetan Lesca MD, PhD
doi : 10.1002/ana.25941
Volume89, Issue2,February 2021,Pages 402-407
Exome sequencing was performed in 2 unrelated families with progressive myoclonus epilepsy. Affected individuals from both families shared a rare, homozygous c.191A?>?G variant affecting a splice site in SLC7A6OS. Analysis of cDNA from lymphoblastoid cells demonstrated partial splice site abolition and the creation of an abnormal isoform. Quantitative reverse transcriptase polymerase chain reaction and Western blot showed a marked reduction of protein expression. Haplotype analysis identified a ~0.85cM shared genomic region on chromosome 16q encompassing the c.191A?>?G variant, consistent with a distant ancestor common to both families. Our results suggest that biallelic loss?of?function variants in SLC7A6OS are a novel genetic cause of progressive myoclonus epilepsy. ANN NEUROL 2021;89:402–407
Silent New Brain MRI Lesions in Children with MOG?Antibody Associated Disease
Giulia Fadda MD,Brenda Banwell MD,Patrick Waters PhD,Ruth A. Marrie MD, PhD,E. Ann Yeh MD,Julia O'Mahony PhD,Douglas A. Arnold MD,Amit Bar?Or MD,on behalf of the Canadian Pediatric Demyelinating Disease Network
doi : 10.1002/ana.25957
Volume89, Issue2,February 2021,Pages 408-413
Anti?myelin oligodendrocyte glycoprotein immunoglobulin G (MOG?IgG) antibodies are associated clinically with either a monophasic or relapsing disease course. We investigated the frequency and clinical importance of acquired asymptomatic brain magnetic resonance imaging (MRI) lesions in a prospective incident cohort of 74 MOG?IgG positive children with serial MRI scans over a median of 5?years from presentation. Silent new lesions were detected in 14% of MOG?IgG positive participants, most commonly within the first months post?onset, with a positive predictive value for clinically relapsing disease of only 20%. Detection of asymptomatic lesions alone need not prompt initiation of chronic immunotherapy. ANN NEUROL 2021;89:408–413
Petrous Apex Cholesterol Granuloma Revealed by Facial Palsy
Maxime Fieux MD,Sophie Daubie MD,Jean?Baptiste Pialat MD, PhD,Stephane Tringali MD, PhD
doi : 10.1002/ana.25924
Volume89, Issue2,February 2021,Pages 414-415
Radiographic Improvement of Larval Cysts in Neurocysticercosis
David R. Landzberg MD,Anuj Dhir MD,Dinesh V. Jillella MD
doi : 10.1002/ana.25931
Volume89, Issue2,February 2021,Pages 416-417
Hyperkinesias and Echolalia in Primary Familial Brain Calcification
Martin Paucar MD, PhD,H?kan Almqvist MD,Ingemar Bj?rkhem MD, PhD,Per Svenningsson MD, PhD
doi : 10.1002/ana.25955
Volume89, Issue2,February 2021,Pages 418-419
Letter to the Editor Concerning Barton and Ranalli
Kenneth J. Ciuffreda OD, PhD
doi : 10.1002/ana.25971
Volume89, Issue2,February 2021,Pages 420-420
Reply to “Letter to the Editor Concerning Barton and Ranalli”
Jason J. S. Barton MD, PhD, FRCPC,Paul J. Ranalli MD, FRCPC
doi : 10.1002/ana.25970
Volume89, Issue2,February 2021,Pages 420-421
Parafoveal Change and Dopamine Loss in the Retina with Parkinson's Disease
Jee?Young Lee MD, PhD,,Jeeyun Ahn MD, PhD,Joo Young Shin MD, PhD,Beomseok Jeon MD, PhD
doi : 10.1002/ana.25972
Volume89, Issue2,February 2021,Pages 421-422
