Neurology




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Message From the Editors to Our Reviewers.

Merino, Jose G. MD, MPhil; Ciccarelli, Olga MD, PhD, FRCP; Worrall, Bradford B. MD, MSc; Aamodt, Whitley W. MD, MPH; Amato, Anthony A. MD; Burch, Rebecca MD; Hedera, Peter MD, PhD; Hershey, Linda A. MD, PhD; Jobst, Barbara C. MD, PhD; Kunchok, Amy C. MBBS, MMed, FRACP; Schneider, Andrea L.C. MD, PhD; Shellhaas, Renee A. MD, MS; Strowd, Roy E. III MD

doi : 10.1212/WNL.0000000000201681

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Modifications to the Short-Form Research Article in the Print Issue of Neurology.

Baskin, Patricia K. MS; Swendsrud, Kristen BA; Rahkola, Andrea BA, ELS; Merino, Jose G. MD, MPhil

doi : 10.1212/WNL.0000000000206753

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Taming the Wild West of Early Life Epilepsy Care: One Question at a Time.

Berg, Anne T. PhD *; Gaillard, William D. MD *

doi : 10.1212/WNL.0000000000201285

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The Implications of Dietary Habits for Dementia: Does Diet Matter?.

Peters, Nils MD; Nacmias, Benedetta PhD

doi : 10.1212/WNL.0000000000201420

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Clinical Reasoning: A Teenage Girl With Progressive Hyperkinetic Movements, Seizures, and Encephalopathy.

Khamis, Sonia MRCPCH; Mitakidou, Maria R. MRCPCH; Champion, Michael MBBS; Goyal, Sushma MBBS; Jones, Rachel L. MBBS; Siddiqui, Ata MBBS; Sabanathan, Saraswathy PhD; Hedderly, Tammy MD; Lin, Jean-Pierre PhD; Jungbluth, Heinz MD, PhD; Papandreou, Apostolos PhD

doi : 10.1212/WNL.0000000000201385

AB The "epilepsy-dyskinesia" spectrum is increasingly recognized in neurogenetic and neurometabolic conditions. It can be challenging to diagnose because of clinical and genetic heterogeneity, atypical or nonspecific presentations, and the rarity of each diagnostic entity.

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Opinion and Special Article: The Need for Specialized Training in Women's Neurology.

LaHue, Sara C. MD *; Paolini, Stephanie MD *; Waters, Janet F.R. MD, MBA; O'Neal, Mary A. MD

doi : 10.1212/WNL.0000000000201451

AB Women's Neurology is an emerging subspecialty that focuses on neurologic disorders across a woman's lifetime. This new domain recognizes that both health and disease are directly affected by hormonal and reproductive changes throughout the life span.

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Pearls & Oy-sters: Vibration-Induced Downbeat Nystagmus: A New Cerebellar Sign Observed in Paraneoplastic Syndrome.

Kim, Hyo-Jung PhD; Kim, Hyun-Jae MD; Lee, Jong-Hee MSc; Kim, Ji-Soo MD, PhD

doi : 10.1212/WNL.0000000000201466

AB Vibratory stimulation of the sternocleidomastoid muscles or the skull may enhance vestibular asymmetry and evoke nystagmus. We report prominent downbeating vibration-induced nystagmus (VIN) in a patient with paraneoplastic cerebellar degeneration due to cervical cancer with positive serum anti-Ri antibody.

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Teaching Video NeuroImage: Dramatic Response to Topiramate in Acquired Pendular Nystagmus From Multiple Sclerosis.

Murphy, Olwen C. MBBCh, MD, MRCPI; Calabresi, Peter A. MD; Gold, Daniel R. DO

doi : 10.1212/WNL.0000000000201452

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Editors' Note: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

Siegler, James E. MD; Galetta, Steven MD, FAAN

doi : 10.1212/WNL.0000000000201675

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Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

Schon, Katherine; Chinnery, Patrick

doi : 10.1212/WNL.0000000000201676

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Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

Davis, Ryan L.; Kumar, Kishore R.; Watson, Eloise C.; Sue, Carolyn M.

doi : 10.1212/WNL.0000000000201677

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Editors' Note: Trajectories of Neurologic Recovery 12 Months After Hospitalization for COVID-19: A Prospective Longitudinal Study.

Siegler, James E. MD; Galetta, Steven MD, FAAN

doi : 10.1212/WNL.0000000000201678

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Reader Response: Trajectories of Neurologic Recovery 12 Months After Hospitalization for COVID-19: A Prospective Longitudinal Study.

Machado, Calixto

doi : 10.1212/WNL.0000000000201679

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Author Response: Trajectories of Neurologic Recovery 12 Months After Hospitalization for COVID-19: A Prospective Longitudinal Study.

Frontera, Jennifer

doi : 10.1212/WNL.0000000000201680

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Surgical Treatments for Epilepsies in Children Aged 1-36 Months: A Systematic Review.

Tsou, Amy Y. MD, MSc; Kessler, Sudha Kilaru MD, MSCE; Wu, Mingche MPH; Abend, Nicholas S. MD, MSCE; Massey, Shavonne L. MD, MSCE; Treadwell, Jonathan R. PhD

doi : 10.1212/WNL.0000000000201012

Early life epilepsies (epilepsies in children 1-36 months old) are common and may be refractory to antiseizure medications. We summarize findings of a systematic review commissioned by the American Epilepsy Society to assess evidence and identify evidence gaps for surgical treatments for epilepsy in children aged 1-36 months without infantile spasms.

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Pharmacologic and Dietary Treatments for Epilepsies in Children Aged 1-36 Months: A Systematic Review.

Treadwell, Jonathan R. PhD; Kessler, Sudha Kilaru MD, MSCE; Wu, Mingche MPH; Abend, Nicholas S. MD, MSCE; Massey, Shavonne L. MD, MSCE; Tsou, Amy Y. MD, MSc

doi : 10.1212/WNL.0000000000201026

Early life epilepsies are common and often debilitating, but no evidence-based management guidelines exist outside of those for infantile spasms. We conducted a systematic review of the effectiveness and harms of pharmacologic and dietary treatments for epilepsy in children aged 1-36 months without infantile spasms. Methods

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Association Between Dietary Habits in Midlife With Dementia Incidence Over a 20-Year Period.

Glans, Isabelle MD; Sonestedt, Emily PhD; Nagga, Katarina MD, PhD; Gustavsson, Anna-Marta MD, PhD; Gonzalez-Padilla, Esther MD; Borne, Yan PhD; Stomrud, Erik MD, PhD; Melander, Olle MD, PhD; Nilsson, Peter M. MD, PhD; Palmqvist, Sebastian MD, PhD *; Hansson, Oskar MD, PhD *

doi : 10.1212/WNL.0000000000201336

Dementia cases are expected to triple during the next 30 years, highlighting the importance of finding modifiable risk factors for dementia. The aim of this study was to investigate whether adherence to conventional dietary recommendations or to a modified Mediterranean diet are associated with a subsequent lower risk of developing all-cause dementia, Alzheimer disease (AD), vascular dementia (VaD), or with future accumulation of AD-related [beta]-amyloid (A[beta]) pathology.

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Association Between Behavioral, Biological, and Genetic Markers of Cardiovascular Health and MRI Markers of Brain Aging: A Cohort Study.

Li, Yuanjing MD; Laukka, Erika J. PhD; Dekhtyar, Serhiy PhD; Papenberg, Goran PhD; Speh, Andreja MSc; Fratiglioni, Laura MD, PhD; Kalpouzos, Gregoria PhD; Qiu, Chengxuan PhD

doi : 10.1212/WNL.0000000000201346

The life's simple 7 approach was proposed to define cardiovascular health (CVH) metrics. We sought to investigate the associations between behavioral, biological, and genetic markers for CVH and vascular brain aging in older adults.

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Trigger Factors for Stroke in Young Adults: A Case-Crossover Study.

Ekker, Merel S. MD, PhD; Verhoeven, Jamie I. MD *; Rensink, Karlijn M.L. Bsc *; Schellekens, Mijntje M.I. MD; Boot, Esther M. MD; van Alebeek, Mayte E. MD, PhD; Brouwers, Paul J.A.M. MD, PhD; Arntz, Renate M. MD, PhD; van Dijk, Gert W. MD, PhD; Gons, Rob A.R. MD, PhD; van Uden, Inge W.M. MD, PhD; den Heijer, Tom MD, PhD; de Kort, Paul L.M. MD, PhD; de Laat, Karlijn F. MD, PhD; van Norden, Anouk G.W. MD, PhD; Vermeer, Sarah E. MD, PhD; van Zagten, Marian MD, PhD; van Oostenbrugge, Robert J. MD, PhD; Wermer, Marieke J.H. MD, PhD; Nederkoorn, Paul J. MD, PhD; Kerkhoff, Henk MD, PhD; Rooyer, Fergus MD; van Rooij, Frank G. MD, PhD; van den Wijngaard, Ido R. MD, PhD; Klijn, Catharina J. M. MD, PhD; Tuladhar, Anil M. MD, PhD; de Leeuw, Frank-Erik MD, PhD

doi : 10.1212/WNL.0000000000201341

Causes of stroke in young adults differ from those in the elderly individuals, and in a larger percentage, no cause can be determined. To gain more insight into the etiology of (cryptogenic) stroke in the young population, we investigated whether trigger factors, such as short-lasting exposure to toxins or infection, may play a role.

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In Vivo Detection of Neurofibrillary Tangles by 18F-MK-6240 PET/MR in Patients With Ischemic Stroke.

Michiels, Laura MD; Thijs, Liselot PhD; Mertens, Nathalie PhD; Sunaert, Stefan MD, PhD; Vandenbulcke, Mathieu MD, PhD; Bormans, Guy PhD; Verheyden, Geert PhD; Koole, Michel PhD; Van Laere, Koen MD, PhD; Lemmens, Robin MD

doi : 10.1212/WNL.0000000000201344

The risk of developing Alzheimer disease is increased after stroke, and this association may not solely be driven by traditional vascular risk factors. Neuronal death leads to the release of tau proteins, which can become dephosphorylated, rephosphorylated, or hyperphosphorylated in the setting of ischemia, possibly leading to formation of neurofibrillary tangles (NFT).

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Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review.

Maulet, Theo PT, PhD; Bonnyaud, Celine PT, PhD; Weill, Catherine MSc; Laforet, Pascal MD, PhD; Cattagni, Thomas PhD

doi : 10.1212/WNL.0000000000201333

Pompe disease is a rare neuromuscular disease caused by a deficiency of the lysosomal enzyme acid [alpha]-glucosidase. The late-onset Pompe disease (LOPD) in adults is characterized by weakness of ventilatory, axial, and proximal extremity muscles.

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Clinical Features of Female Carriers and Prodromal Male Patients With Spinal and Bulbar Muscular Atrophy.

Torii, Ryota MD; Hashizume, Atsushi MD, PhD; Yamada, Shinichiro MD, PhD; Ito, Daisuke MD, PhD; Kishimoto, Yoshiyuki MD, PhD; Moriyoshi, Hideyuki MD; Inagaki, Tomonori MD; Nakamura, Ryoichi MD, PhD; Nakamura, Tomohiko MD, PhD; Naoi, Tameto MD, PhD; Morita, Mitsuya MD, PhD; Katsuno, Masahisa MD, PhD

doi : 10.1212/WNL.0000000000201342

To assess the clinical and electrophysiologic features of female carriers and early-stage male patients with spinal and bulbar muscular atrophy (SBMA) to elucidate the early pathophysiologic changes of the disease.

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In Vivo 2-Hydroxyglutarate Monitoring With Edited MR Spectroscopy for the Follow-up of IDH-Mutant Diffuse Gliomas: The IDASPE Prospective Study.

Di Stefano, Anna Luisa MD, PhD; Nichelli, Lucia MD *; Berzero, Giulia MD, PhD *; Valabregue, Romain PhD; Touat, Mehdi MD, PhD; Capelle, Laurent; Pontoizeau, Clement PhD; Bielle, Franck MD, PhD; Lerond, Julie Msc; Giry, Marine Msc; Villa, Chiara MD, PhD; Baussart, Bertrand MD; Dehais, Caroline MD; Galanaud, Damien MD, PhD; Baldini, Capucine MD; Savatovsky, Julien MD; Dhermain, Frederic; Deelchand, Dinesh K. PhD; Ottolenghi, Chris MD, PhD; Lehericy, Stephane MD, PhD; Marjanska, Malgorzata PhD; Branzoli, Francesca PhD *; Sanson, Marc MD, PhD *

doi : 10.1212/WNL.0000000000201137

D-2-hydroxyglutarate (2HG) characterizes IDH-mutant gliomas and can be detected and quantified with edited MRS (MEGA-PRESS). In this study, we investigated the clinical, radiologic, and molecular parameters affecting 2HG levels.

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