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Annals of Neurology: Volume 90, Number 2, August 2021
doi : 10.1002/ana.26170
Volume 90, Issue 2 p. C1-C1
A pair of 123I-FP-CIT SPECT scans from a patient with parkinsonism and slowly progressive short-striding gait due to hydrocephalus from aqueductal stenosis. The scan on the left was taken before and that on the right after third ventriculostomy, which relieved the hydrocephalus. The ventriculostomy improved her gait and performance on the UPDRS III rating scale as well as the binding of 123I-FP-CIT to dopamine transporter in dopaminergic terminals in the striatum. See Nishida and Yokota, pp. 326–327 in this issue.
Targeting Inflammasomes to Treat Neurological Diseases
Jan D. Lünemann MD,Sunny Malhotra PhD,Mari L. Shinohara PhD,Xavier Montalban MD, PhD,Manuel Comabella MD, PhD
doi : 10.1002/ana.26158
Volume 90, Issue 2 p. 177-188
Inflammasomes are multimeric protein complexes that can sense a plethora of microbe- and damage-associated molecular signals. They play important roles in innate immunity and are key regulators of inflammation in health and disease. Inflammasome-mediated processing and secretion of proinflammatory cytokines such as interleukin (IL) 1? and IL-18 and induction of pyroptosis, a proinflammatory form of cell death, have been associated with the development and progression of common immune-mediated and degenerative central nervous system (CNS) diseases such as Alzheimer disease, multiple sclerosis, brain injury, stroke, epilepsy, Parkinson disease, and amyotrophic lateral sclerosis. A growing number of pharmacological compounds inhibiting inflammasome activation and signaling show therapeutic efficacy in preclinical models of the aforementioned disease conditions. Here, we illustrate regulatory mechanisms of inflammasome activation during CNS homeostasis and tissue injury. We highlight the evidence for inflammasome activation as a mechanistic underpinning in a wide range of CNS diseases and critically discuss the promise and potential limitations of therapeutic strategies that aim to inhibit the inflammasome components in neurological disorders. ANN NEUROL 2021;90:177–188
No, it's not 1976 all over again
Seward B. Rutkove MD,Rebecca A. Betensky PhD
doi : 10.1002/ana.26142
Volume 90, Issue 2 p. 189-190
Genetics of Cluster Headache Takes a Leap
Aarno Palotie MD, PhD
doi : 10.1002/ana.26159
Volume 90, Issue 2 p. 191-192
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache
Emer O'Connor MB, BCH, BAO,Carmen Fourier MSc,Caroline Ran PhD,Prasanth Sivakumar PhD,Franziska Liesecke PhD,Laura Southgate PhD,Aster V. E. Harder MD,Lisanne S. Vijfhuizen BSc,Janice Yip MSc,Nicola Giffin MD,Nicholas Silver PhD,Fayyaz Ahmed PhD,Isabel C. Hostettler MD,Brendan Davies MD,M. Zameel Cader DPhil,Benjamin S. Simpson MSc,Roisin Sullivan MSc,Stephanie Efthymiou MSc,Joycee Adebimpe,Olivia Quinn,Ciaran Campbell BA,Gianpiero L. Cavalleri PhD,Michail Vikelis PhD,Tim Kelderman MD,Koen Paemeleire PhD,Emer Kilbride MB, BCH, BAO,Lou Grangeon MD,Susie Lagrata MSc,Daisuke Danno MD,Richard Trembath PhD,Nicholas W. Wood PhD,Ingrid Kockum PhD,Bendik S. Winsvold PhD,Anna Steinberg PhD,Christina Sj?strand PhD,Elisabet Waldenlind PhD,Jana Vandrovcova PhD,Henry Houlden PhD,Manjit Matharu PhD,Andrea Carmine Belin PhD
doi : 10.1002/ana.26150
Volume 90, Issue 2 p. 193-202
This study was undertaken to identify susceptibility loci for cluster headache and obtain insights into relevant disease pathways.
Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache
Aster V.E. Harder MD,Bendik S. Winsvold MD, PhD,Raymond Noordam PhD,Lisanne S. Vijfhuizen BSc,Sigrid B?rte MD, PhD,Lisette J.A. Kogelman PhD,Irene de Boer MD,Erling Tronvik MD, PhD,Frits R. Rosendaal MD, PhD,Ko Willems van Dijk PhD,Emer O'Connor MD,Carmen Fourier MSc,Laurent F. Thomas PhD,Espen S. Kristoffersen MD, PhD,Cluster Headache Genetics Working Group,Rolf Fronczek MD, PhD,Patricia Pozo-Rosich MD,Rigmor H. Jensen MD, DrMedSci, PhD,Michel D. Ferrari MD, PhD,Thomas F. Hansen PhD,John-Anker Zwart MD, PhD,Gisela M. Terwindt MD, PhD,Arn M.J.M van den Maagdenberg PhD
doi : 10.1002/ana.26146
Volume 90, Issue 2 p. 203-216
Identifying common genetic variants that confer genetic risk for cluster headache.
Longitudinal CSF Iron Pathway Proteins in Posthemorrhagic Hydrocephalus: Associations with Ventricle Size and Neurodevelopmental Outcomes
Jennifer M. Strahle MD,Kelly B. Mahaney MD,Diego M. Morales MS,Chandana Buddhala PhD,Chevis N. Shannon DrPH, MPH, MBA,John C. Wellons III MD, MSPH,Abhaya V. Kulkarni MD, PhD,Hailey Jensen MStat,Ron W. Reeder PhD,Richard Holubkov PhD,Jay K. Riva-Cambrin MD, MSc,William E. Whitehead MD,Curtis J. Rozzelle MD,Mandeep Tamber MD, PhD,Ian F. Pollack MD,Robert P. Naftel MD,John R.W. Kestle MD, MSc,David D. Limbrick Jr MD, PhD,and for the Hydrocephalus Clinical Research Network
doi : 10.1002/ana.26133
Volume 90, Issue 2 p. 217-226
Iron has been implicated in the pathogenesis of brain injury and hydrocephalus after preterm germinal matrix hemorrhage-intraventricular hemorrhage, however, it is unknown how external or endogenous intraventricular clearance of iron pathway proteins affect the outcome in this group.
Blood–Brain Barrier Breakdown in Relationship to Alzheimer and Vascular Disease
Zixuan Lin BS,Sandeepa Sur PhD,Peiying Liu PhD,Yang Li PhD,Dengrong Jiang PhD,Xirui Hou BS,Jacqueline Darrow PhD,Jay J. Pillai MD,Sevil Yasar MD, PhD,Paul Rosenberg MD,Marilyn Albert PhD,Abhay Moghekar MD,Hanzhang Lu PhD
doi : 10.1002/ana.26134
Volume 90, Issue 2 p. 227-238
Blood–brain barrier (BBB) breakdown has been suggested to be an early biomarker in human cognitive impairment. However, the relationship between BBB breakdown and brain pathology, most commonly Alzheimer disease (AD) and vascular disease, is still poorly understood. The present study measured human BBB function in mild cognitive impairment (MCI) patients on 2 molecular scales, specifically BBB's permeability to water and albumin molecules.
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant
Tauana Bernardes Leoni MD,Carelis Gonz?lez-Salazar MD, MSc,Thiago Junqueira R. Rezende PhD,Ana Luisa C. Hern?ndez MD,Alexandre Hil?rio B. Mattos PhD,Antônio Rodrigues Coimbra Neto MD,Felipe Franco da Graça MD,Jo?o Pedro Nunes Gonçalves MSc,Alberto R.M. Martinez MD, PhD,Lucas Taniguti PhD,Jo?o Paulo Kitajima PhD,Fernando Kok MD, PhD,F?bio Rogério MD, PhD,André Macedo Serafim da Silva MD,Alexandre Leite Rodrigues de Oliveira PhD,Edmar Zanoteli MD, PhD,Anamarli Nucci MD, PhD,Marcondes C. França Jr MD, PhD
doi : 10.1002/ana.26136
Volume 90, Issue 2 p. 239-252
Protein misfolding plays a central role not only in amyotrophic lateral sclerosis (ALS), but also in other conditions, such as frontotemporal dementia (FTD), inclusion body myopathy (hIBM) or Paget's disease of bone. The concept of multisystem proteinopathies (MSP) was created to account for those rare families that segregate at least 2 out of these 4 conditions in the same pedigree. The calcium-dependent phospholipid-binding protein annexin A11 was recently associated to ALS in European pedigrees. Herein, we describe in detail 3 Brazilian families presenting hIBM (isolated or in combination with ALS/FTD) caused by the novel p.D40Y change in the gene encoding annexin A11 (ANXA11).
Spinal Fluid Myeloid Microvesicles Predict Disease Course in Multiple Sclerosis
Stefano Gelibter MD,Marco Pisa MD,Tommaso Croese MD,Annamaria Finardi BSci,Alessandra Mandelli BSci,Francesca Sangalli MD,Bruno Colombo MD,Vittorio Martinelli MD,Giancarlo Comi MD,FEAN Massimo Filippi MD,Roberto Furlan MD, PhD
doi : 10.1002/ana.26154
Volume 90, Issue 2 p. 253-265
In vivo measures of myeloid activity are promising biomarkers in multiple sclerosis. We previously demonstrated that cerebrospinal fluid (CSF) myeloid microvesicles are markers of microglial/macrophage activity and neuroinflammation in multiple sclerosis. Here, we aimed at investigating the diagnostic and prognostic value of myeloid microvesicles in a clinical setting.
Cognitive Functions in Adult-Onset Phenotypes of X-Linked Adrenoleukodystrophy
Lisa Sch?fer MSc,Hannes Roicke MSc,Martin Fischer PhD,Annett Sühnel PhD,Wolfgang K?hler MD
doi : 10.1002/ana.26141
Volume 90, Issue 2 p. 266-273
X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder characterized by progressive demyelination ranging from mild myelopathic forms (adrenomyeloneuropathy [AMN]) to severe cerebral variants (adult cerebral adrenoleukodystrophy [ACALD]). The aim of this study was to compare cognitive function in adult-onset X-ALD phenotypes.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy
Egidio Spinelli MD,Kyle R. Christensen PhD,Emily Bryant MS, LCGC,Amy Schneider BSc, BA, MGenCouns,Jennifer Rakotomamonjy PhD,Alison M. Muir PhD,Jessica Giannelli MSN, APRN, FNP-BC,Rebecca O. Littlejohn MS, CGC,Elizabeth R. Roeder MD,Berkley Schmidt MS,William G. Wilson MD,Elysa J. Marco MD,Kazuhiro Iwama MD, PhD,Satoko Kumada MD, PhD,Tiziana Pisano MD,Carmen Barba MD,Annalisa Vetro PhD,Eva H. Brilstra MD, PhD,Richard H. van Jaarsveld PhD,Naomichi Matsumoto MD, PhD,Hadassa Goldberg-Stern MD,Patrick W. Carney MD,P. Ian Andrews MBBS,Christelle M. El Achkar,Sam Berkovic AM, MD, FAA, FRACP, FRS,Lance H. Rodan MD,Undiagnosed Diseases Network (UDN),Kirsty McWalter MS, CGC,Renzo Guerrini MD,Ingrid E. Scheffer MBBS, PhD, FRACP,Heather C. Mefford MD, PhD,Simone Mandelstam MBCHB,Linda Laux MD,John J. Millichap MD,Alicia Guemez-Gamboa PhD,Angus C. Nairn PhD,Gemma L. Carvill PhD
doi : 10.1002/ana.26147
Volume 90, Issue 2 p. 274-284
The MAST family of microtubule-associated serine–threonine kinases (STKs) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been conclusively associated with neurological disease, with de novo variants in individuals with a neurodevelopmental disorder, including a mega corpus callosum.
Non–Cell Autonomous Epileptogenesis in Focal Cortical Dysplasia
Hyun Yong Koh MD, PhD,Jaeson Jang PhD,Sang Hyeon Ju MD,Ryunhee Kim PhD,Gyu-Bon Cho MS,Dong Seok Kim MD, PhD,Jong-Woo Sohn MD, PhD,Se-Bum Paik PhD,Jeong Ho Lee MD, PhD
doi : 10.1002/ana.26149
Volume 90, Issue 2 p. 285-299
Low-level somatic mosaicism in the brain has been shown to be a major genetic cause of intractable focal epilepsy. However, how a relatively few mutation-carrying neurons are able to induce epileptogenesis at the local network level remains poorly understood.
Automated Annotation of Epileptiform Burden and Its Association with Outcomes
Sahar F. Zafar MD,Eric S. Rosenthal MD,Jin Jing PhD,Wendong Ge PhD,Mohammad Tabaeizadeh MD,Hassan Aboul Nour MD,Maryum Shoukat MD,Haoqi Sun PhD,Farrukh Javed MD,Solomon Kassa MD,Muhammad Edhi MD,Elahe Bordbar MD,Justin Gallagher BA,Valdery Moura Jr MSc, MBA,Manohar Ghanta MS,Yu-Ping Shao MS,Sungtae An MS,Jimeng Sun PhD,Andrew J. Cole MD,M. Brandon Westover MD, PhD
doi : 10.1002/ana.26161
Volume 90, Issue 2 p. 300-311
This study was undertaken to determine the dose–response relation between epileptiform activity burden and outcomes in acutely ill patients.
Guillain-Barré Syndrome following ChAdOx1-S/nCoV-19 Vaccine
Boby V. Maramattom MD, DM, FRCP,Parameswaran Krishnan MD, DM,Reji Paul MD, DM,Sandeep Padmanabhan MD, DM,Soumya Cherukudal Vishnu Nampoothiri MD, DM, DNB,Akheel A. Syed MBBS, MRCP(UK), PhD, FRCP(Edin),Halinder S. Mangat MD, MSc, FCNS, FCCM
doi : 10.1002/ana.26143
Volume 90, Issue 2 p. 312-314
As of April 22, 2021, around 1.5 million individuals in three districts of Kerala, India had been vaccinated with COVID-19 vaccines. Over 80% of these individuals (1.2 million) received the ChAdOx1-S/nCoV-19 vaccine. In this population, during this period of 4?weeks (mid-March to mid-April 2021), we observed seven cases of Guillain-Barre syndrome (GBS) that occurred within 2?weeks of the first dose of vaccination. All seven patients developed severe GBS. The frequency of GBS was 1.4- to 10-fold higher than that expected in this period for a population of this magnitude. In addition, the frequency of bilateral facial weakness, which typically occurs in <20% of GBS cases, suggests a pattern associated with the vaccination. While the benefits of vaccination substantially outweigh the risk of this relatively rare outcome (5.8 per million), clinicians should be alert to this possible adverse event, as six out of seven patients progressed to areflexic quadriplegia and required mechanical ventilatory support. ANN NEUROL 2021;90:312–314
Guillain–Barré Syndrome Variant Occurring after SARS-CoV-2 Vaccination
Christopher Martin Allen iBSc, MBBS, MRCP,Shelby Ramsamy MBChB, MRCP,Alexander William Tarr BSc, PhD,Patrick Jason Tighe BSc, PhD,William Lucien Irving MB BChir, MA, PhD, MRCP, FRCPath,Radu Tanasescu MD, PhD,Jonathan Rhys Evans MB BChir, MA, PhD, MRCP
doi : 10.1002/ana.26144
Volume 90, Issue 2 p. 315-318
Although SARS-CoV-2 vaccines are very safe, we report 4 cases of the bifacial weakness with paresthesias variant of Guillain–Barré syndrome (GBS) occurring within 3?weeks of vaccination with the Oxford–AstraZeneca SARS-CoV-2 vaccine. This rare neurological syndrome has previously been reported in association with SARS-CoV-2 infection itself. Our cases were given either intravenous immunoglobulin, oral steroids, or no treatment. We suggest vigilance for cases of bifacial weakness with paresthesias variant GBS following vaccination for SARS-CoV-2 and that postvaccination surveillance programs ensure robust data capture of this outcome, to assess for causality. ANN NEUROL 2021;90:315–318
ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism
Hossein Darvish PhD,Luis J. Azcona BS,Shaghayegh Taghavi MS,Saghar Ghasemi Firouzabadi PhD,Abbas Tafakhori MD,Elham Alehabib PhD,Fatemeh Mohajerani PhD,Safoura Zardadi MS,Coro Pais?n-Ruiz PhD
doi : 10.1002/ana.26148
Volume 90, Issue 2 p. 319-323
We here describe the identification of a novel variant in the anti-inflammatory Annexin A1 protein likely to be the cause of disease in two siblings with autosomal recessive parkinsonism. The disease-segregating variant was ascertained through a combination of homozygosity mapping and whole genome sequencing and was shown to impair phagocytosis in zebrafish mutant embryos. The highly conserved variant, absent in healthy individuals and public SNP databases, affected a functional domain of the protein with neuroprotective properties. This study supports the hypothesis that damaged microglia might lead to impairments in the clearance of accumulated and aggregated proteins resulting in parkinsonism. ANN NEUROL 2021;90:319–323
Quantitative Susceptibility Mapping in Woodhouse-Sakati Syndrome
Jérôme Hodel MD, PhD,Agnès R?tig PhD,Arnold Munnich MD, PhD,Hassan Hosseini MD, PhD
doi : 10.1002/ana.26096
Reversible Reduction of Dopamine Transporter Uptake in a Case of Hydrocephalus
Yoichiro Nishida MD, PhD,Takanori Yokota MD, PhD
doi : 10.1002/ana.26130
Functional Neurological Disorders and COVID-19 Vaccination
Jing-Han Ng MBBS,K. Ray Chaudhuri MD, DSc, FRCP,Eng-King Tan MBBS, MRCP (UK), FRCP (Edin), FAMS (Neurology)
doi : 10.1002/ana.26160
Volume 90, Issue 2 p. 328-328
