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Annals of Neurology: Volume 91, Number 1, January 2022
A fluorodeoxyglucose (FDG) PET image fused to an MRI scan of a patient with a left superior oblique palsy. He fixated with the paretic left eye, which caused continuous activation of the left inferior rectus muscle to compensate for the left hypertropia. This can be seen as a hot spot (red) in the inferior medial left orbit. See Li and colleagues, pages 160–161 in this issue, for details.
doi : 10.1002/ana.26104
Volume 91, Issue 1 p. C1-C1
A Message from the Editor-in-Chief
Kenneth L. Tyler MD
doi : 10.1002/ana.26264
Volume 91, Issue 1 p. 1-3
Promise of Nucleic Acid Therapeutics for Amyotrophic Lateral Sclerosis
Daisuke Ito MD, PhD
doi : 10.1002/ana.26259
Volume 91, Issue 1 p. 13-20
Nucleic acid therapeutics have been attracting attention as novel drug discovery modalities for intractable diseases, including amyotrophic lateral sclerosis. This review provides an overview of the current status and prospects of antisense oligonucleotide treatment for amyotrophic lateral sclerosis. Recently, the results of a phase I/II study using the antisense oligonucleotides Tofersen to treat familial amyotrophic lateral sclerosis with superoxide dismutase 1 mutation have been reported. Intrathecal Tofersen administration resulted in a 36% reduction in superoxide dismutase 1 level in the cerebrospinal fluid. Another report described 2 patients with mutant superoxide dismutase 1 treated with an adeno-associated virus encoding a microRNA targeting superoxide dismutase 1. The first patient, who possessed the fast progressive mutant A5V, received a single intrathecal infusion. Although the patient died of respiratory arrest 16 months after treatment, autopsy findings showed a reduction of >90% in superoxide dismutase 1 level in the spinal cord. Clinical trials on antisense oligonucleotide therapies targeting other major amyotrophic lateral sclerosis-causative genes, fused in sarcoma and chromosome 9 open reading frame 72, are ongoing. To attenuate the pathology of TDP-43, strategies targeting regulators of TDP-43 (ataxin 2) and proteins downstream of TDP-43 (stathmin 2) by antisense oligonucleotides are being developed. The advent of nucleic acid therapeutics has enabled to specifically attack the molecules in the amyotrophic lateral sclerosis pathological cascade, expanding the options for therapeutic targets. ANN NEUROL 2022;91:13–20
ANA Investigates Dysautonomia
Megan Richie MD,Adeline Goss MD,Safwan Jaradeh MD
doi : 10.1002/ana.26273
Volume 91, Issue 1 p. 21-22
Perfusion Imaging Predicts Favorable Outcomes after Basilar Artery Thrombectomy
Carlo W. Cereda MD,Giovanni Bianco MD,Michael Mlynash MD, MS,Nicole Yuen MS,Abid Y. Qureshi MD,Archana Hinduja MD,Seena Dehkharghani MD,Adam E. Goldman-Yassen MD,Kevin Li-Chun Hsieh MD,Dan-Victor Giurgiutiu MD,Dan Gibson MD,Emmanuel Carrera MD,Fana Alemseged MD,Tobias D. Faizy MD,Jens Fiehler MD,Marco Pileggi MD,Bruce Campbell PhD,Gregory W. Albers MD,Jeremy J. Heit MD, PhD
doi : 10.1002/ana.26272
Volume 91, Issue 1 p. 23-32
Perfusion imaging identifies anterior circulation stroke patients who respond favorably to endovascular thrombectomy (ET), but its role in basilar artery occlusion (BAO) is unknown. We hypothesized that BAO patients with limited regions of severe hypoperfusion (time to reach maximum concentration in seconds [Tmax] >?10) would have a favorable response to ET compared to patients with more extensive regions involved.
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study
Carlo Wilke MD,Selina Reich MSc,John C. van Swieten MD, PhD,Barbara Borroni MD, PhD,Raquel Sanchez-Valle MD,Fermin Moreno MD, PhD,Robert Laforce MD, PhD,Caroline Graff MD, PhD,Daniela Galimberti PhD,James B. Rowe MD, PhD,Mario Masellis MD, PhD,Maria C. Tartaglia MD,Elizabeth Finger MD,Rik Vandenberghe MD, PhD,Alexandre de Mendonça MD, PhD,Fabrizio Tagliavini MD,Isabel Santana MD, PhD,Simon Ducharme MD, MSc,Chris R. Butler MD,Alexander Gerhard MD,Johannes Levin MD,Adrian Danek MD,Markus Otto MD,Giovanni Frisoni MD, PhD,Roberta Ghidoni PhD,Sandro Sorbi PhD,Martina Bocchetta PhD,Emily Todd BSc,Jens Kuhle MD,Christian Barro MD, PhD,Genetic Frontotemporal dementia Initiative (GENFI),Jonathan D. Rohrer MD, PhD,Matthis Synofzik MD
doi : 10.1002/ana.26265
Volume 91, Issue 1 p. 33-47
Although the presymptomatic stages of frontotemporal dementia (FTD) provide a unique chance to delay or even prevent neurodegeneration by early intervention, they remain poorly defined. Leveraging a large multicenter cohort of genetic FTD mutation carriers, we provide a biomarker-based stratification and biomarker cascade of the likely most treatment-relevant stage within the presymptomatic phase: the conversion stage.
miR-146b Protects the Perinatal Brain against Microglia-Induced Hypomyelination
Cindy Bokobza PhD,Pooja Joshi PhD,Anne-Laure Schang PhD,Zsolt Csaba MD, PhD,Valérie Faivre PhD,Amélie Montané MD,Anne Galland MD,Anouk Benmamar-Badel BS,Emmanuelle Bosher BS,Sophie Lebon ENG,Leslie Schwendimann BS,Shyamala Mani PhD,Pascal Dournaud PhD,Valerie Besson PhD,Bobbi Fleiss PhD,Pierre Gressens MD, PhD,Juliette Van Steenwinckel PhD
doi : 10.1002/ana.26263
Volume 91, Issue 1 p. 48-65
In the premature newborn, perinatal inflammation mediated by microglia contributes significantly to neurodevelopmental injuries including white matter injury (WMI). Brain inflammation alters development through neuroinflammatory processes mediated by activation of homeostatic microglia toward a pro-inflammatory and neurotoxic phenotype. Investigating immune regulators of microglial activation is crucial to find effective strategies to prevent and treat WMI.
Novel Autoantibodies in Idiopathic Small Fiber Neuropathy
Amanda C. Y. Chan FRCP,Hiu Yi Wong MD, PhD,Yao Feng Chong MD,Poh San Lai PhD,Hock Luen Teoh MD,Alison Y. Y. Ng,Jennifer H. M. Hung MRCP,Yee Cheun Chan MRCP,Kay W. P. Ng MD,Joy Vijayan MD,Jonathan J. Y. Ong FRCP,Bharatendu Chandra MD,Chi Hsien Tan MD,Nurul H. Rutt,Ti Myen Tan,Nur Hafiza Ismail,Einar Wilder-Smith MD,Herbert Schwarz PhD,Hyungwon Choi PhD,Vijay K. Sharma MD,Anselm Mak MD, PhD
doi : 10.1002/ana.26268
Volume 91, Issue 1 p. 66-77
Small fiber neuropathy (SFN) is clinically and etiologically heterogeneous. Although autoimmunity has been postulated to be pathophysiologically important in SFN, few autoantibodies have been described. We aimed to identify autoantibodies associated with idiopathic SFN (iSFN) by a novel high-throughput protein microarray platform that captures autoantibodies expressed in the native conformational state.
Oral Anticoagulants in the Oldest Old with Recent Stroke and Atrial Fibrillation
Alexandros A. Polymeris MD,Kosmas Macha MD,Maurizio Paciaroni MD,Duncan Wilson MD, PhD,Masatoshi Koga MD, PhD,Manuel Cappellari MD,Sabine Schaedelin MSc,Annaelle Zietz MD,Nils Peters MD,David J. Seiffge MD,David Haupenthal MD,Luise Gassmann MD,Gian Marco De Marchis MD, MSc,Ruihao Wang MD,Henrik Gensicke MD,Svenja Stoll MD,Sebastian Thilemann MD,Nikolaos S. Avramiotis MD, MSc,Bruno Bonetti MD, PhD,Georgios Tsivgoulis MD, PhD,Gareth Ambler PhD,Andrea Alberti MD,Sohei Yoshimura MD, PhD,Martin M. Brown MD, PhD,Masayuki Shiozawa MD,Gregory Y. H. Lip MD,Michele Venti MD,Monica Acciarresi MD,Kanta Tanaka MD, PhD,Maria Giulia Mosconi MD,Masahito Takagi MD, PhD,Rolf H. Jäger MD,Keith Muir MD,Manabu Inoue MD, PhD,Stefan Schwab MD,Leo H. Bonati MD,Philippe A. Lyrer MD,Kazunori Toyoda MD, PhD,Valeria Caso MD, PhD,David J. Werring MD, PhD,Bernd Kallmünzer MD,Stefan T. Engelter MD, and on behalf of the NOACISP-LONGTERM, Erlangen Registry, CROMIS-2, RAF, RAF-DOAC, SAMURAI-NVAF and Verona Registry Collaborators
doi : 10.1002/ana.26267
Volume 91, Issue 1 p. 78-88
To investigate the safety and effectiveness of direct oral anticoagulants (DOAC) versus vitamin K antagonists (VKA) after recent stroke in patients with atrial fibrillation (AF) aged ?85?years.
COVID-19 Vaccine Response in People with Multiple Sclerosis
Emma C. Tallantyre MRCP, PhD,Nicola Vickaryous PhD,Valerie Anderson PhD,Aliye Nazli Asardag BSc,David Baker PhD,Jonathan Bestwick MSc,Kath Bramhall BSc,Randy Chance MSc,Nikos Evangelou FRCP, PhD,Katila George BSc,Gavin Giovannoni PhD, FRCP,Andrew Godkin PhD, FRCP,Leanne Grant BSc,Katharine E. Harding MRCP, PhD,Aimee Hibbert BSc,Gillian Ingram MRCP, PhD,Meleri Jones PhD,Angray S. Kang PhD,Samantha Loveless PhD,Stuart J. Moat PhD,Neil P. Robertson FRCP, PhD,Klaus Schmierer FRCP, PhD,Martin J. Scurr PhD,Sita Navin Shah MBBS,Jessica Simmons,Matthew Upcott BSc,Mark Willis MRCP, MD,Stephen Jolles FRCP, FRCPath, PhD,Ruth Dobson FRCP, PhD
doi : 10.1002/ana.26251
Volume 91, Issue 1 p. 89-100
The purpose of this study was to investigate the effect of disease modifying therapies on immune response to severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) vaccines in people with multiple sclerosis (MS).
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy
Alexandre Bacq PhD,Delphine Roussel,Thomas Bonduelle MD,Sara Zagaglia MD,Marina Maletic,Théo Ribierre PhD,Homa Adle-Biassette MD,Cécile Marchal MD,Mélanie Jennesson MD,Isabelle An MD, PhD,Genomics England Research Consortium,Fabienne Picard MD, PhD,Vincent Navarro MD, PhD,Sanjay M. Sisodiya PhD, FRCP,Stéphanie Baulac PhD
doi : 10.1002/ana.26256
Volume 91, Issue 1 p. 101-116
Germline loss-of-function mutations in DEPDC5, and in its binding partners (NPRL2/3) of the mammalian target of rapamycin (mTOR) repressor GATOR1 complex, cause focal epilepsies and increase the risk of sudden unexpected death in epilepsy (SUDEP). Here, we asked whether DEPDC5 haploinsufficiency predisposes to primary cardiac defects that could contribute to SUDEP and therefore impact the clinical management of patients at high risk of SUDEP.
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
Albert Z. Lim MRCPCH,Yi Shiau Ng PhD, MRCP,Alasdair Blain PhD,Cecilia Jiminez-Moreno PhD,Charlotte L. Alston PhD,Victoria Nesbitt PhD, MRCPCH,Louise Simmons BSc,Saikat Santra MRCPCH,Evangeline Wassmer MRCPCH,Emma L. Blakely PhD, FRCPath,Doug M. Turnbull PhD, FRCP,Robert W. Taylor PhD, FRCPath,Gráinne S. Gorman PhD, FRCP,Robert McFarland PhD, FRCPCH
doi : 10.1002/ana.26260
Volume 91, Issue 1 p. 117-130
This observational cohort study aims to quantify disease burden over time, establish disease progression rates, and identify factors that may determine the disease course of Leigh syndrome.
Optimal Surgical Extent for Memory and Seizure Outcome in Temporal Lobe Epilepsy
Daichi Sone MD, PhD,Maria Ahmad MSc,Pamela J. Thompson PhD,Sallie Baxendale PhD,Sjoerd B. Vos PhD,Fenglai Xiao MD, PhD,Jane de Tisi BA Hons,Andrew W. McEvoy FRCS,Anna Miserocchi MD,John S. Duncan DM, FRCP,Matthias J. Koepp MD, PhD,Marian Galovic MD
doi : 10.1002/ana.26266
Volume 91, Issue 1 p. 131-144
Postoperative memory decline is an important consequence of anterior temporal lobe resection (ATLR) for temporal lobe epilepsy (TLE), and the extent of resection may be a modifiable factor. This study aimed to define optimal resection margins for cognitive outcome while maintaining a high rate of postoperative seizure freedom.
Genetically Determined Low-Density Lipoprotein Cholesterol and Risk of Subarachnoid Hemorrhage
Julián N. Acosta MD,Cameron P. Both BS,Natalia Szejko MD, PhD,Audrey C. Leasure BS,Safa Abdelhakim MD,Victor M. Torres-Lopez MA,Stacy C. Brown MD,Charles C. Matouk MD,Murat Gunel MD,Kevin N. Sheth MD,Guido J. Falcone MD, ScD, MPH
doi : 10.1002/ana.26250
Volume 91, Issue 1 p. 145-149
We evaluated whether genetically elevated low-density lipoprotein cholesterol (LDL-C) levels are associated with lower risk of intracranial aneurysms and subarachnoid hemorrhage (IA/SAH). We conducted a 2-sample Mendelian randomization (MR) study. Our primary analysis used the inverse-variance weighted method. In secondary analyses, we implemented the MR-PRESSO method, restricted our analysis to LDL-C–specific instruments, and performed multivariate MR. A 1-mmol/l increase in genetically instrumented LDL-C levels was associated with a 17% lower risk of IA/SAH (odds ratio = 0.83, 95% confidence interval = 0.73–0.94, p =?0.004). Results remained consistent in secondary and multivariate analyses (all p <?0.05). Our results provide evidence for an inverse causal relationship between LDL-C levels and risk of IA/SAH. ANN NEUROL 2022;91:145–149
Cerebrospinal Fluid Analysis Post–COVID-19 Is Not Suggestive of Persistent Central Nervous System Infection
Finja Schweitzer PhD,Yasemin Goereci MD,Christiana Franke MD,Steffi Silling PhD,Fabian Bösl MD,Franziska Maier PhD,Eva Heger PhD,Birgit Deiman PhD,Harald Prüss MD,Oezguer A. Onur MD,Florian Klein MD,Gereon R. Fink MD,Veronica Di Cristanziano MD,Clemens Warnke MD
doi : 10.1002/ana.26262
Volume 91, Issue 1 p. 150-157
This study was undertaken to assess whether SARS-CoV-2 causes a persistent central nervous system infection. SARS-CoV-2–specific antibody index and SARS-CoV-2 RNA were studied in cerebrospinal fluid following COVID-19. Cerebrospinal fluid was assessed between days 1 and 30 (n = 12), between days 31 and 90 (n = 8), or later than 90?days (post–COVID-19, n = 20) after COVID-19 diagnosis. SARS-CoV-2 RNA was absent in all patients, and in none of the 20 patients with post–COVID-19 syndrome were intrathecally produced anti–SARS-CoV-2 antibodies detected. The absence of evidence of SARS-CoV-2 in cerebrospinal fluid argues against a persistent central nervous system infection as a cause of neurological or neuropsychiatric post–COVID-19 syndrome. ANN NEUROL 2022;91:150–157
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Manu Jokela MD, PhD,Jari Karhu MD,Janne Nurminen MD, PhD,Mika H. Martikainen MD, PhD
doi : 10.1002/ana.26274
Volume 91, Issue 1 p. 158-159
Manu Jokela MD, PhD,Jari Karhu MD,Janne Nurminen MD, PhD,Mika H. Martikainen MD, PhD
Fixating with the Paretic Eye: Evidence of “Fixation Duress” on PET Imaging
Cathy Meng Fei Li MD,Jonathan G. Romsa MD, FRCPC,Adrian Budhram MD, FRCPC,J. Alexander Fraser MD, FRCPC
doi : 10.1002/ana.26261
Volume 91, Issue 1 p. 160-161
Adenovirus COVID-19 Vaccines and Guillain–Barré Syndrome with Facial Paralysis
Antoine Pegat MD,Alberto Vogrig MD,Charles Khouri MD,Kamel Masmoudi MD,Thierry Vial MD,Emilien Bernard MD
doi : 10.1002/ana.26258
Volume 91, Issue 1 p. 162-163
Reply to ‘Adenovirus COVID-19 Vaccines and Guillain-Barré Syndrome with Facial Paralysis’ by Dr Pegat et al.
Boby Varkey Maramattom MD, DM
doi : 10.1002/ana.26257
Volume 91, Issue 1 p. 163-163
