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Annals of Neurology: Volume 89, Number 4, April 2021
doi : 10.1002/ana.26055
Annals of NeurologyVolume 89, Issue 4
A set of illustrations showing different types of axonal swellings encountered in normal appearing white matter, but indicative of axonal injury in brains of subjects with multiple sclerosis. The upper row shows a normal appearing axon immunostained red for neurofilaments to show the axon and green for proteolipid protein to show the myelin sheath. The second row shows blistering of the myelin sheath, the third row illustrates a swollen axon bleb, and the lowest row demonstrates an axon that has been disrupted. For explanation see Luchicchi et al. pages 711–725, in this issue.
Evaluation of Adult Neurology Residency Program Websites
David Daniel MD Cayla Vila MD Christopher R. Leon Guerrero MD Elias G. Karroum MD, PhD
doi : 10.1002/ana.26016
Annals of NeurologyVolume 89, Issue 4 p. 637-642
Neurology residency program websites often serve as the initial face of a program for prospective residents early in the application process. We evaluated adult neurology residency program websites to determine their comprehensiveness to identify areas for improvement.
Unmasking Covert Language Processing in the Intensive Care Unit with Electroencephalography
Brian L. Edlow Lionel Naccache MD, PhD
doi : 10.1002/ana.26030
Annals of NeurologyVolume 89, Issue 4 p. 643-645
Covert Speech Comprehension Predicts Recovery From Acute Unresponsive States
Rodika Sokoliuk PhD Giulio Degano PhD Leah Banellis MSc Lucia Melloni PhD Tom Hayton MD Steve Sturman MD Tonny Veenith MD Kamal M. Yakoub MD Antonio Belli MD Uta Noppeney PhD Damian Cruse PhD
doi : 10.1002/ana.25995
Annals of NeurologyVolume 89, Issue 4 p. 646-656
Patients with traumatic brain injury who fail to obey commands after sedation?washout pose one of the most significant challenges for neurological prognostication. Reducing prognostic uncertainty will lead to more appropriate care decisions and ensure provision of limited rehabilitation resources to those most likely to benefit. Bedside markers of covert residual cognition, including speech comprehension, may reduce this uncertainty.
Pediatric Ischemic Stroke: An Infrequent Complication of SARS?CoV?2
Lauren A. Beslow MD, MSCE Alexandra B. Linds MSc Christine K. Fox MD, MAS Manoëlle Kossorotoff MD, PhD Yenny C. Zu?iga Zambrano MD Marta Hern?ndez?Ch?vez MD Sahar M. A. Hassanein MD, PhD Susan Byrne MD, PhD Ming Lim MD, PhD Nkechi Maduaka MbChB, BSc Dimitrios Zafeiriou MD, PhD Michael M. Dowling MD, PhD, MSCS Ryan J. Felling MD, PhD Mubeen F. Rafay MBBS, MSc Laura L. Lehman MD Michael J. Noetzel MD Timothy J. Bernard MD, MSCS Nomazulu Dlamini MBBS, MSc, PhD International Pediatric Stroke Study Group
doi : 10.1002/ana.25991
Annals of NeurologyVolume 89, Issue 4 p. 657-665
Severe complications of severe acute respiratory syndrome coronavirus 2 (SARS?CoV?2) include arterial ischemic stroke (AIS) in adults and multisystem inflammatory syndrome in children. Whether stroke is a frequent complication of pediatric SARS?CoV?2 is unknown. This study aimed to determine the proportion of pediatric SARS?CoV?2 cases with ischemic stroke and the proportion of incident pediatric strokes with SARS?CoV?2 in the first 3 months of the pandemic in an international cohort.
CD8+ T?Lymphocyte–Driven Limbic Encephalitis Results in Temporal Lobe Epilepsy
Julika Pitsch PhD Karen M. J. van Loo PhD Marco Gallus cand. med. Andre Dik MD Delara Kamalizade MPharm Ann?Kathrin Baumgart BSc Vadym Gnatkovsky MD Johannes Alexander Müller PhD Thoralf Opitz PhD Gordon Hicking MSc Venu Narayanan Naik PhD Lydia Wachsmuth PhD Cornelius Faber PhD Rainer Surges MD Christian Kurts MD Susanne Schoch PhD Nico Melzer MD Albert J. Becker MD
doi : 10.1002/ana.26000
Annals of NeurologyVolume 89, Issue 4 p. 666-685
Limbic encephalitis (LE) comprises a spectrum of inflammatory changes in affected brain structures including the presence of autoantibodies and lymphoid cells. However, the potential of distinct lymphocyte subsets alone to elicit key clinicopathological sequelae of LE potentially inducing temporal lobe epilepsy (TLE) with chronic spontaneous seizures and hippocampal sclerosis (HS) is unresolved.
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
Matthieu Moisse PhD Ramona A. J. Zwamborn MSc Joke van Vugt PhD Rick van der Spek MD Wouter van Rheenen PhD Brendan Kenna PhD Kristel Van Eijk PhD Kevin Kenna PhD Philippe Corcia MD Philippe Couratier MD Patrick Vourc'h PhD Orla Hardiman MD Russell McLaughin PhD Marc Gotkine MBBS Vivian Drory MD Nicola Ticozzi MD Vincenzo Silani MD Mamede de Carvalho MD Jes?s S. Mora Pardina MD Monica Povedano MD Peter M. Andersen MD Markus Weber MD Nazli A. Ba?ak PhD Xiao Chen PhD Michael A. Eberle PhD Ammar Al?Chalabi PhD Chris Shaw MD Pamela J. Shaw MD Karen E. Morrison MD John E. Landers PhD Jonathan D. Glass MD Wim Robberecht MD Michael van Es MD Leonard van den Berg MD Jan Veldink MD Philip Van Damme MD Project MinE Sequencing Consortium
doi : 10.1002/ana.26009
Annals of NeurologyVolume 89, Issue 4 p. 686-697
The role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN deficiency.
Antibodies Contributing to Focal Epilepsy Signs and Symptoms Score
Marienke A. A. M. de Bruijn MD Anna E. M. Bastiaansen MD Hana Mojzisova MD Agnes van Sonderen MD, PhD Roland D. Thijs MD, PhD Marian J. M. Majoie MD, PhD Rob P. W. Rouhl MD, PhD Marleen H. van Coevorden?Hameete MD, PhD Juna M. de Vries MD, PhD Amaia Mu?oz Lopetegi MD Bob Roozenbeek MD, PhD Marco W. J. Schreurs PhD Peter A. E. Sillevis Smitt MD, PhD Maarten J. Titulaer MD, PhD the ACES Study Group
doi : 10.1002/ana.26013
Annals of NeurologyVolume 89, Issue 4 p. 698-710
Diagnosing autoimmune encephalitis (AIE) is difficult in patients with less fulminant diseases such as epilepsy. However, recognition is important, as patients require immunotherapy. This study aims to identify antibodies in patients with focal epilepsy of unknown etiology, and to create a score to preselect patients requiring testing.
Axon?Myelin Unit Blistering as Early Event in MS Normal Appearing White Matter
Antonio Luchicchi PhD Bert't Hart PhD Irene Frigerio MSc Anne?Marie van Dam PhD Laura Perna MSc Herman L. Offerhaus PhD Peter K. Stys MD Geert J. Schenk PhD Jeroen J. G. Geurts PhD
doi : 10.1002/ana.26014
Annals of NeurologyVolume 89, Issue 4 p. 711-725
Multiple sclerosis (MS) is a chronic neuroinflammatory and neurodegenerative disease of unknown etiology. Although the prevalent view regards a CD4+?lymphocyte autoimmune reaction against myelin at the root of the disease, recent studies propose autoimmunity as a secondary reaction to idiopathic brain damage. To gain knowledge about this possibility we investigated the presence of axonal and myelinic morphological alterations, which could implicate imbalance of axon?myelin units as primary event in MS pathogenesis.
Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network
Alexander L. Cohen MD, PhD Brechtje P. F. Mulder BSc Anna K. Prohl BA Louis Soussand MS Peter Davis MD Mallory R. Kroeck MA Peter McManus BA Ali Gholipour PhD Benoit Scherrer PhD E. Martina Bebin MD, MPA Joyce Y. Wu MD Hope Northrup MD Darcy A. Krueger MD, PhD Mustafa Sahin MD, PhD Simon K. Warfield PhD Michael D. Fox MD, PhD Jurriaan M. Peters MD, PhD for the Tuberous Sclerosis Complex Autism Center of Excellence Network Study Group
doi : 10.1002/ana.26015
Annals of NeurologyVolume 89, Issue 4 p. 726-739
Approximately 50% of patients with tuberous sclerosis complex develop infantile spasms, a sudden onset epilepsy syndrome associated with poor neurological outcomes. An increased burden of tubers confers an elevated risk of infantile spasms, but it remains unknown whether some tuber locations confer higher risk than others. Here, we test whether tuber location and connectivity are associated with infantile spasms.
CaV?2? Autoimmune Encephalitis: A Novel Antibody and its Characteristics
Soon?Tae Lee MD, PhD Byoung Joo Lee PhD Ji?Yeon Bae MS Young Sook Kim MD Do?Hyun Han PhD Hyun?Sook Shin MS Soyun Kim MS Dong?Kyu Park BS Sang Won Seo MD, PhD Kon Chu MD, PhD Sang Kun Lee MD, PhD Won?Kyung Ho MD, PhD
doi : 10.1002/ana.26017
Annals of NeurologyVolume 89, Issue 4 p. 740-752
Discovery of a novel antibody would enable diagnosis and early treatment of autoimmune encephalitis. The aim was to discover a novel antibody targeting a synaptic receptor and characterize the pathogenic mechanism.
Multimodal Biomarkers Quantify Recovery in Autoimmune Autonomic Ganglionopathy
Shiwen Koay MBBS, BSc Ekawat Vichayanrat MD, PhD Fion Bremner PhD, FRCOphth Jalesh N. Panicker MD, DM, FRCP Bethan Lang PhD Michael P. Lunn PhD, FRCP Laura Watson BSc Gordon T. Ingle MBChB, MD Ellen Merete Hagen MD, PhD Patricia McNamara Mb BCh BAO, PhD Leslie Jacobson DPhil Vincenzo Provitera MD Maria Nolano MD, PhD Angela Vincent FRCPath, FMedSci, FRS Christopher J. Mathias FRCP, FMedSci Valeria Iodice MD, PhD
doi : 10.1002/ana.26018
Annals of NeurologyVolume 89, Issue 4 p. 753-768
The objective of this study was to evaluate patients with ganglionic acetylcholine receptor antibody (gAChR?Ab) positive autoimmune autonomic ganglionopathy using a multimodal testing protocol to characterize their full clinical phenotype and explore biomarkers to quantify immunotherapy response.
Adoptive Transfer of JC Virus?Specific T Lymphocytes for the Treatment of Progressive Multifocal Leukoencephalopathy
Giulia Berzero MD, PhD Sabrina Basso PharmD Luca Stoppini BSci Andrea Palermo MD Anna Pichiecchio MD Matteo Paoletti MD Federica Lucev MD Simonetta Gerevini MD Andrea Rossi MD Elisa Vegezzi MD Luca Diamanti MD Paola Bini MD Matteo Gastaldi MD Serena Delbue PhD Cesare Perotti MD Elena Seminari MD Maura Faraci MD Mario Luppi MD Fausto Baldanti MD, PhD Marco Zecca MD Enrico Marchioni MD Patrizia Comoli MD
doi : 10.1002/ana.26020
Annals of NeurologyVolume 89, Issue 4 p. 769-779
Progressive multifocal leukoencephalopathy (PML) is still burdened by high mortality in a subset of patients, such as those affected by hematological malignancies. The aim of this study was to analyze the safety and carry out preliminary evaluation of the efficacy of polyomavirus JC (JCPyV)?specific T cell therapy in a cohort of hematological patients with PML.
Disease?Modifying Therapies and Coronavirus Disease 2019 Severity in Multiple Sclerosis
Maria P. Sormani PhD Nicola De Rossi MD Irene Schiavetti PhD Luca Carmisciano MD Cinzia Cordioli MD Lucia Moiola MD Marta Radaelli MD Paolo Immovilli MD Marco Capobianco MD Maria Trojano MD Paola Zaratin PhD Gioacchino Tedeschi MD Giancarlo Comi MD Mario A. Battaglia MD Francesco Patti MD Marco Salvetti MD the Musc?19 Study Group
doi : 10.1002/ana.26028
Annals of NeurologyVolume 89, Issue 4 p. 780-789
This study was undertaken to assess the impact of immunosuppressive and immunomodulatory therapies on the severity of coronavirus disease 2019 (COVID?19) in people with multiple sclerosis (PwMS).
Multisite Study of Evoked Potentials in Rett Syndrome
Joni N. Saby PhD Timothy A. Benke MD, PhD Sarika U. Peters PhD Shannon M. Standridge MD Junko Matsuzaki PhD Clare Cutri?French BA Lindsay C. Swanson MS CGC David N. Lieberman MD PhD Alexandra P. Key PhD Alan K. Percy MD Jeffrey L. Neul MD PhD Charles A. Nelson PhD Timothy P.L. Roberts PhD Eric D. Marsh MD, PhD
doi : 10.1002/ana.26029
Annals of NeurologyVolume 89, Issue 4 p. 790-802
The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number of disease?modifying therapeutics are currently under development, there is a pressing need for biomarkers to objectively and precisely assess the effectiveness of these treatments.
Lower Lymphocyte Count is Associated With Increased Risk of Parkinson's Disease
Melanie P. Jensen MBBS Benjamin Meir Jacobs MRCP Ruth Dobson MRCP, PhD Sara Bandres?Ciga PhD Cornelis Blauwendraat PhD Anette Schrag MD, PhD Alastair J. Noyce MRCP, PhD The International Parkinson's Disease Genomics Consortium (IPDGC)
doi : 10.1002/ana.26034
Annals of NeurologyVolume 89, Issue 4 p. 803-812
Patients with established Parkinson's disease (PD) display differences in peripheral blood markers of immune function, including leukocyte differential counts, compared with controls. These differences may be useful biomarkers to predict PD and may shed light on pathogenesis. We sought to identify whether peripheral immune dysregulation was associated with increased risk of subsequent PD diagnosis.
Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage
Moran Hausman?Kedem MD Gustavo Malinger MD Shira Modai PhD Steven A. Kushner MD, PhD Shelly I. Shiran MD Liat Ben?Sira MD Jonathan Roth MD Shlomi Constantini MD, MSc Aviva Fattal?Valevski MD, MHA Shay Ben?Shachar MD
doi : 10.1002/ana.26033
Annals of NeurologyVolume 89, Issue 4 p. 813-822
Perinatal intracranial hemorrhage (pICH) is a rare event that occurs during the fetal/neonatal period with potentially devastating neurological outcome. However, the etiology of pICH is frequently hard to depict. We investigated the role of rare genetic variations in unexplained cases of pICH.
Neuro?Ophthalmological Findings in Early Fatal Familial Insomnia
Vincenzo Mastrangelo MD Elena Merli MD Janet C. Rucker MD Eric R. Eggenberger DO David S. Zee MD Pietro Cortelli MD, PhD
doi : 10.1002/ana.26008
Annals of NeurologyVolume 89, Issue 4 p. 823-827
Fatal familial insomnia (FFI) is a rare inherited prion disease characterized by sleep, autonomic, and motor disturbances. Neuro?ophthalmological abnormalities have been reported at the onset of disease, although not further characterized. We analyzed video recordings of eye movements of 6 patients with FFI from 3 unrelated kindreds, seen within 6?months from the onset of illness. Excessive saccadic intrusions were the most prominent findings. In patients with severe insomnia, striking saccadic intrusions are an early diagnostic clue for FFI. The fact that the thalamus is the first structure affected in FFI also suggests its role in the control of steady fixation. ANN NEUROL 2021;89:823–827
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
Linyan Meng PhD Pirjo Isohanni MD, PhD Yunru Shao MS Brett H. Graham MD, PhD Scott E. Hickey MD Stephanie Brooks MS Anu Suomalainen PhD Pascal Joset PhD Katharina Steindl MD Anita Rauch PhD Annette Hackenberg MD Frances A. High MD, PhD Amy Armstrong?Javors MD Niccol? E. Mencacci MD, PhD Paulina Gonzàlez?Latapi MD Walaa A. Kamel MD Jasem Y. Al?Hashel MD Bernabé I. Bustos PhD Alejandro V. Hernandez BS Dimitri Krainc MD, PhD Steven J. Lubbe PhD Hilde Van Esch MD Chiara De Luca MD Katleen Ballon MD Claudia Ravelli MD Lydie Burglen MD, PhD Leila Qebibo MD Daniel G. Calame MD, PhD Tadahiro Mitani MD, PhD Dana Marafi MD Davut Pehlivan MD Nebal W. Saadi MD Yavuz Sahin MD Reza Maroofian PhD Stephanie Efthymiou MD Henry Houlden MD Shazia Maqbool MD Fatima Rahman MD Shen Gu PhD Jennifer E. Posey MD, PhD James R. Lupski MD, PhD, DSc (hon) Jill V. Hunter MD Michael F. Wangler MD, PhD Christopher J. Carroll PhD Yaping Yang PhD
doi : 10.1002/ana.26019
Annals of NeurologyVolume 89, Issue 4 p. 828-833
The Mediator multiprotein complex functions as a regulator of RNA polymerase II–catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease?causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021;89:828–833
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia
Edoardo Monfrini MD Filippo Cogiamanian MD Sabrina Salani BS Letizia Straniero PhD Gigliola Fagiolari BS Manuela Garbellini BS Emma Carsana BS Linda Borellini MD Fabio Biella BS Maurizio Moggio MD Nereo Bresolin MD Stefania Corti MD, PhD Stefano Duga PhD Giacomo P. Comi MD Massimo Aureli PhD Alessio Di Fonzo MD, PhD
doi : 10.1002/ana.26021
Annals of NeurologyVolume 89, Issue 4 p. 834-839
In this work, we describe the association of a novel homozygous VPS11 variant with adult?onset generalized dystonia, providing a detailed clinical report and biological evidence of disease mechanism. Vps11 is a subunit of the homotypic fusion and protein sorting (HOPS) complex, which promotes the fusion of late endosomes and autophagosomes with the lysosome. Functional studies on mutated fibroblasts showed marked lysosomal and autophagic abnormalities, which improved after overexpression of the wild type Vps11 protein. In conclusion, a deleterious VPS11 variant, damaging the autophagic and lysosomal pathways, is the probable genetic cause of a novel form of generalized dystonia. ANN NEUROL 2021;89:834–839
Bilateral Hippocampal Infarction following Thrombectomy for Basilar Occlusion
Sydni M. Cole MD Jonah P. Zuflacht MD Meghan McAnally MD Magdy H. Selim MD, PhD
doi : 10.1002/ana.25993
Annals of NeurologyVolume 89, Issue 4 p. 840-841
Hydrophilic Polymer Embolization Following Coiling of Intracranial Aneurysm
Peter M. Fernandes PhD Fiona C. Moreton PhD Johannes Du Plessis MD Siddharthan Chandran PhD
doi : 10.1002/ana.26002
Annals of NeurologyVolume 89, Issue 4 p. 842-843
Ball?Valve Mechanism of Colloid Cysts
François Lechanoine MD Arnaud Lazard MD Julien Francisco Zaldivar?Jolissaint MD Emmanuel De Schlichting MD
doi : 10.1002/ana.26012
Annals of NeurologyVolume 89, Issue 4 p. 844-845
Coronavirus Disease 2019 and the Risk of Guillain–Barré Syndrome
Simon Rinaldi MBChB, MRCP, PhD
doi : 10.1002/ana.26011
Annals of NeurologyVolume 89, Issue 4 p. 846-846
Reply to: “COVID?19 and the Risk of GBS”
?scar Mir? PhD, MD Jes?s Porta?Etessam PhD, MD Juan Gonz?lez del Castillo PhD, MD Spanish Investigators on Emergency Situations TeAm (SIESTA) network
doi : 10.1002/ana.26010
Annals of NeurologyVolume 89, Issue 4 p. 846-847
Letter Concerning Vision Therapy: Ocular Motor Training in Mild Traumatic Brain Injury
William Padula OD
doi : 10.1002/ana.26026
Annals of NeurologyVolume 89, Issue 4 p. 847-848
Reply to “Letter Concerning” Vision Therapy: Ocular Motor Training in mTBI
Jason J. S. Barton MD, PhD, FRCPC Paul J. Ranalli MD, FRCPC
doi : 10.1002/ana.26022
Annals of NeurologyVolume 89, Issue 4 p. 848-849
Peripapillary Hyper?Reflective Ovoid Mass?Like Structures in Astronauts
Peter Wostyn MD Charles Robert Gibson OD Thomas H. Mader MD
doi : 10.1002/ana.26027
Annals of NeurologyVolume 89, Issue 4 p. 849-849
Reply to “Peripapillary Hyper?Reflective Ovoid Masslike Structures in Astronauts”
Axel Petzold MD, PhD, FRCP
doi : 10.1002/ana.26023
Annals of NeurologyVolume 89, Issue 4 p. 849-849
