Neurology

Tintore, Mar MD, PhD*; Cobo-Calvo, Alvaro MD, PhD*; Carbonell, Pere MStat; Arrambide, Georgina MD, PhD; Otero-Romero, Susana MD, PhD; Rio, Jordi MD, PhD; Tur, Carmen MD, PhD; Comabella, Manuel MD, PhD; Nos, Carlos MD; Arevalo, Maria Jesus PsyD; Midaglia, Luciana MD; Galan, Ingrid MD; Vidal-Jordana, Angela MD, PhD; Castillo, Joaquin MD, PhD; Rodriguez-Acevedo, Breogan MD; Zabalza de Torres, Ana MD; Salerno, Annalaura MD; Auger, Cristina MD; Sastre-Garriga, Jaume MD, PhD; Rovira, Alex MD, PhD; Montalban, Xavier MD, PhD

doi : 10.1212/WNL.0000000000012726

Volume 97(17), 26 October 2021, p e1641-e1652

To explore whether time to diagnosis, time to treatment initiation, and age to reach disability milestones have changed in patients with clinically isolated syndrome (CIS) according to different multiple sclerosis (MS) diagnostic criteria periods.

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Discovery and Development of Pregabalin (Lyrica): The Role of Public Funding

Barenie, Rachel PharmD, JD, MPH; Darrow, Jonathan SJD, JD, MBA; Avorn, Jerry MD; Kesselheim, Aaron S. MD, JD, MPH

doi : 10.1212/WNL.0000000000012730

Volume 97(17), 26 October 2021, p e1653-e1660

Pregabalin (Lyrica), a widely used drug that has generated billions in revenue as a treatment for diabetic neuropathy and other conditions, was originally discovered in an academic medical center, largely supported by public funding. We aimed to define the extent of direct federal public funding that contributed to various stages of pregabalin's development prior to US Food and Drug Administration (FDA) approval.

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Reflexive Eye Closure in Response to Cone and Melanopsin Stimulation: A Study of Implicit Measures of Light Sensitivity in Migraine

Kaiser, Eric A. MD, PhD; McAdams, Harrison PhD; Igdalova, Aleksandra BA; Haggerty, Edda B. BA; Cucchiara, Brett L. MD; Brainard, David H. PhD; Aguirre, Geoffrey K. MD, PhD

doi : 10.1212/WNL.0000000000012734

Volume 97(17), 26 October 2021, p e1672-e1680

To quantify interictal photophobia in migraine with and without aura using reflexive eye closure as an implicit measure of light sensitivity and to assess the contribution of melanopsin and cone signals to these responses.

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Comparing the Clinical Utility and Diagnostic Performance of CSF P-Tau181, P-Tau217, and P-Tau231 Assays

Leuzy, Antoine PhD; Janelidze, Shorena PhD; Mattsson-Carlgren, Niklas MD, PhD; Palmqvist, Sebastian MD, PhD; Jacobs, Dirk PhD; Cicognola, Claudia MD, PhD; Stomrud, Erik MD, PhD; Vanmechelen, Eugeen PhD; Dage, Jeffrey L. PhD; Hansson, Oskar MD, PhD

doi : 10.1212/WNL.0000000000012727

Volume 97(17), 26 October 2021, p e1681-e1694

Phosphorylated tau (p-tau) in CSF is considered an important biomarker in Alzheimer disease (AD) and has been incorporated in recent diagnostic criteria. Several variants exist, including p-tau at threonines 181 (p-tau181), 217 (p-tau217), and 231 (p-tau231). However, no studies have compared their diagnostic performance or association to [beta]-amyloid (A[beta]) and tau-PET. Understanding which p-tau variant to use remains an important yet answered question. We aimed to compare the diagnostic accuracy of p-tau181, p-tau217, and p-tau231 in CSF for AD and their association with A[beta] and tau-PET.

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Influence of Cognitive Reserve on Cognitive Trajectories: Role of Brain Pathologies

Li, Xuerui MSc; Song, Ruixue PhD; Qi, Xiuying PhD*; Xu, Hui PhD; Yang, Wenzhe MPH; Kivipelto, Miia MD, PhD; Bennett, David A. MD+; Xu, Weili PhD*+

doi : 10.1212/WNL.0000000000012728

Volume 97(17), 26 October 2021, p e1695-e1706

Evidence on the association of cognitive reserve (CR) with the cognitive trajectories is limited. We aimed to examine the influence of CR indicator on domain-specific cognitive trajectories taking brain pathologies into account.

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Effect of Cognitive Reserve on the Association of Vascular Brain Injury With Cognition: Analysis of the PURE and CAHHM Studies

Durrani, Romella PhD; Friedrich, Matthias G. MD; Schulze, Karleen M. MMath; Awadalla, Philip PhD; Balasubramanian, Kumar MSc; Black, Sandra E. MD; Broet, Philippe MD, PhD; Busseuil, David PhD; Desai, Dipika MSc; Dummer, Trevor PhD; Dick, Alexander MD; Hicks, Jason MSc; Iype, Thomas MD; Kelton, David MD; Kirpalani, Anish MD; Lear, Scott A. PhD; Leipsic, Jonathon MD; Li, Wei PhD; McCreary, Cheryl R. PhD; Moody, Alan R. MD; Noseworthy, Michael D. PhD; Parraga, Grace PhD; Poirier, Paul MD, PhD; Rangarajan, Sumathy MSc; Szczesniak, Dorota PhD; Szuba, Andrzej MD; Tardif, Jean-Claude MD; Teo, Koon MBBCH, PhD; Vena, Jennifer E. PhD; Zatonska, Katarzyna MD; Zimny, Anna MD; Lee, Douglas S. MD, PhD; Yusuf, Salim MBBS, DPhil; Anand, Sonia S. MD, PhD; Smith, Eric E. MD, MPH

doi : 10.1212/WNL.0000000000012765

Volume 97(17), 26 October 2021, p e1707-e1716

To determine whether cognitive reserve attenuates the association of vascular brain injury with cognition.

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Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease

Donlevy, Gabrielle A. MND; Garnett, Sarah P. PhD; Cornett, Kayla M.D. PhD; McKay, Marnee J. PhD; Baldwin, Jennifer N. PhD; Shy, Rosemary R. MD; Yum, Sabrina W. MD; Estilow, Timothy OTR/L; Moroni, Isabella MD; Foscan, Maria PT; Pagliano, Emanuela MD; Pareyson, Davide MD; Laura, Matilde MD, PhD; Bhandari, Trupti PT; Muntoni, Francesco MD, FRCPCH, FMed; Reilly, Mary M. MD, FRCP; Finkel, Richard S. MD; Sowden, Janet E. BSc; Eichinger, Katy J. PhD; Herrmann, David N. MBBCh; Shy, Michael E. MD; Burns, Joshua PhD*; Menezes, Manoj P. MD, PhD*

doi : 10.1212/WNL.0000000000012725

Volume 97(17), 26 October 2021, p e1727-e1736

This study examined the association between body mass index (BMI) and disability in children with Charcot-Marie-Tooth disease (CMT).

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Association of Elbow Flexor MRI Fat Fraction With Loss of Hand-to-Mouth Movement in Patients With Duchenne Muscular Dystrophy

Naarding, Karin J. MD; van der Holst, Menno PhD; van Zwet, Erik W. PhD; van de Velde, Nienke M. MD; de Groot, Imelda J.M. MD, PhD; Verschuuren, Jan J.G.M. MD, PhD; Kan, Hermien E. PhD*; Niks, Erik H. MD PhD*

doi : 10.1212/WNL.0000000000012724

Volume 97(17), 26 October 2021, p e1737-e1742

To study the potential of quantitative MRI (qMRI) fat fraction (FF) as a biomarker in nonambulant patients with Duchenne muscular dystrophy (DMD), we assessed the additive predictive value of elbow flexor FF to age at loss of hand-to-mouth movement.

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Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies

Guerrini, Renzo MD, FAES, FRCP; Balestrini, Simona MD, PhD; Wirrell, Elaine C. MD; Walker, Matthew C. PhD, FRCP

doi : 10.1212/WNL.0000000000012744

Volume 97(17), 26 October 2021, p 817-831

A monogenic etiology can be identified in up to 40% of people with severe epilepsy. To address earlier and more appropriate treatment strategies, clinicians are required to know the implications that specific genetic causes might have on pathophysiology, natural history, comorbidities, and treatment choices. In this narrative review, we summarize concepts on the genetic epilepsies based on the underlying pathophysiologic mechanisms and present the current knowledge on treatment options based on evidence provided by controlled trials or studies with lower classification of evidence. Overall, evidence robust enough to guide antiseizure medication (ASM) choices in genetic epilepsies remains limited to the more frequent conditions for which controlled trials and observational studies have been possible. Most monogenic disorders are very rare and ASM choices for them are still based on inferences drawn from observational studies and early, often anecdotal, experiences with precision therapies. Precision medicine remains applicable to only a narrow number of patients with monogenic epilepsies and may target only part of the actual functional defects. Phenotypic heterogeneity is remarkable, and some genetic mutations activate epileptogenesis through their developmental effects, which may not be reversed postnatally. Other genes seem to have pure functional consequences on excitability, acting through either loss- or gain-of-function effects, and these may have opposite treatment implications. In addition, the functional consequences of missense mutations may be difficult to predict, making precision treatment approaches considerably more complex than estimated by deterministic interpretations. Knowledge of genetic etiologies can influence the approach to surgical treatment of focal epilepsies. Identification of germline mutations in specific genes contraindicates surgery while mutations in other genes do not. Identification, quantification, and functional characterization of specific somatic mutations before surgery using CSF liquid biopsy or after surgery in brain specimens will likely be integrated in planning surgical strategies and reintervention after a first unsuccessful surgery as initial evidence suggests that mutational load may correlate with the epileptogenic zone. Promising future directions include gene manipulation by DNA or mRNA targeting; although most are still far from clinical use, some are in early phase clinical development.

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Pearls & Oy-sters: POEMS Syndrome: An Eloquent Acronym for a Rare Disease You Don't Want to Miss

Bossart, Abigail MD; McClune, Brian DO; Barrell, Kelsey MD; Warner, Judith MD; Majersik, Jennifer Juhl MD, MS

doi : 10.1212/WNL.0000000000012325

Volume 97(17), 26 October 2021, p 835-838

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Clinical Reasoning: A 2-Day-Old Boy With Sudden Cardiac Arrest and Encephalopathy

Holmes, Brandon B. MD, PhD; Russ, Jeffrey B. MD, PhD; Wu, Yvonne W. MD, MPH; Gallagher, Renata C. MD, PhD; Gano, Dawn MD, MAS

doi : 10.1212/WNL.0000000000012408

Volume 97(17), 26 October 2021, p e1743-e1746

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Teaching NeuroImage: Histopathologically Confirmed Intracranial Enchondroma/Low-Grade Chondrosarcoma and IDH1-Mutated Diffuse Glioma in Ollier Disease

Gregory, Timothy A. MD; Taylor, Lynne P. MD

doi : 10.1212/WNL.0000000000012269

Volume 97(17), 26 October 2021, p e1747-e1748

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Teaching Video NeuroImage: New STUB1 Variant Causes Chorea, Tremor, Dystonia, Myoclonus, Ataxia, Depression, Cognitive Impairment, Epilepsy, and Superficial Siderosis

Saft, Carsten MD; Skodda, Sabine MD; Nguyen, Huu Phuc MD; Park, Joohyun MD; Haack, Tobias B. MD

doi : 10.1212/WNL.0000000000012264

Volume 97(17), 26 October 2021, p e1749-e1750

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Teaching Video NeuroImage: Papilledema and Cavernous Sinus Fistula Caused by Occipital Dural Arteriovenous Malformation in a Patient With Postoperative Laryngeal Cancer

Feng, Chaoyi MD, PhD; Chen, Qian MD, PhD; Chen, Weimin MD; Tang, Jianjun MD, PhD; Sun, Xinghuai MD, PhD; Tian, Guohong MD, PhD

doi : 10.1212/WNL.0000000000012267

Volume 97(17), 26 October 2021, p e1751-e1752

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Editors' Note: Detection of Cerebral Microbleeds With Venous Connection at 7-Tesla MRI

Siegler, James E. MD; Galetta, Steven MD

doi : 10.1212/WNL.0000000000012740

Volume 97(17), 26 October 2021, p 839

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Reader Response: Detection of Cerebral Microbleeds With Venous Connection at 7-Tesla MRI

Chen, Huimin; Wang, Yilong

doi : 10.1212/WNL.0000000000012736

Volume 97(17), 26 October 2021, p 839-840

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Author Response: Detection of Cerebral Microbleeds With Venous Connection at 7-Tesla MRI

Perosa, Valentina; Rotta, Johanna; Schreiber, Stefanie

doi : 10.1212/WNL.0000000000012731

Volume 97(17), 26 October 2021, p 840

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Editors' Note: Guillain-Barre Syndrome in the Placebo and Active Arms of a COVID-19 Vaccine Clinical Trial

Lewis, Ariane MD; Galetta, Steven MD

doi : 10.1212/WNL.0000000000012735

Volume 97(17), 26 October 2021, p 840-841

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Reader Response: Guillain-Barre Syndrome in the Placebo and Active Arms of a COVID-19 Vaccine Clinical Trial

Willer, Justin

doi : 10.1212/WNL.0000000000012732

Volume 97(17), 26 October 2021, p 841

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Author Response: Guillain-Barre Syndrome in the Placebo and Active Arms of a COVID-19 Vaccine Clinical Trial

Amato, Anthony

doi : 10.1212/WNL.0000000000012733

Volume 97(17), 26 October 2021, p 841-842

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Sporadic Creutzfeldt-Jakob Disease in a Very Young Person

Appleby, Brian Stephen MD; Maddox, Ryan PhD; Schonberger, Lawrence B. MD; Cali, Ignazio PhD; Hammett, Teresa MPH; Cohen, Mark MD; Belay, Ermias MD

doi : 10.1212/WNL.0000000000012737

Volume 97(17), 26 October 2021, p 813-816

Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common form of human prion disease and typically occurs in middle to late life. sCJD in early adulthood is extremely uncommon. The purpose of this report is to raise awareness of cases of sCJD in young patients that are not associated with a genetic mutation or acquired prion disease risk factors.

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Resident & Fellow Rounds: October 2021

Strowd, Roy E. III MD, MEd, MS, FAAN

doi : 10.1212/WNL.0000000000012743

Volume 97(17), 26 October 2021, p 832-834

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Comparing Perimenstrual and Nonperimenstrual Migraine Attacks Using an e-Diary

van Casteren, Daphne S. MD, PhD*; Verhagen, Iris E. MD*; van der Arend, Britt W.H. MD; van Zwet, Erik W. PhD; MaassenVanDenBrink, Antoinette PhD+; Terwindt, Gisela M. MD, PhD+

doi : 10.1212/WNL.0000000000012723

Volume 97(17), 26 October 2021, p e1661-e1671

Endogenous and exogenous female sex hormones are considered important contributors to migraine pathophysiology. Previous studies have cautiously suggested that perimenstrual migraine attacks have a longer duration and are associated with higher disability compared to nonperimenstrual attacks, but they showed conflicting results on acute therapy efficacy, pain intensity, and associated symptoms. We compared perimenstrual and nonperimenstrual migraine attack characteristics and assessed premenstrual syndrome (PMS) in women with migraine.

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Association of Prestroke Glycemic Control With Vascular Events During 1-Year Follow-up

Chang, Jun Young MD, PhD; Kim, Wook-Joo MD, PhD; Kwon, Jee Hyun MD, PhD; Lee, Ji Sung PhD; Kim, Beom Joon MD, PhD; Kim, Joon-Tae MD, PhD; Lee, Jun MD, PhD; Cha, Jae Kwan MD, PhD; Kim, Dae-Hyun MD, PhD; Cho, Yong-Jin MD, PhD; Hong, Keun-Sik MD, PhD; Lee, Soo Joo MD, PhD; Park, Jong-Moo MD, PhD; Lee, Byung-Chul MD, PhD; Oh, Mi Sun MD, PhD; Lee, Sang-Hwa MD, PhD; Kim, Chulho MD, PhD; Kim, Dong-Eog MD, PhD; Lee, Kyung Bok MD, PhD; Park, Tai Hwan MD, PhD; Choi, Jay Chol MD, PhD; Shin, Dong-Ick MD, PhD; Sohn, Sung-Il MD, PhD; Hong, Jeong-Ho MD, PhD; Bae, Hee-Joon MD, PhD; Han, Moon-Ku MD, PhD

doi : 10.1212/WNL.0000000000012729

Volume 97(17), 26 October 2021, p e1717-e1726

We evaluated the association between admission glycated hemoglobin (HbA1c) and subsequent risk of composite vascular events, including stroke, myocardial infarction (MI), and vascular death, in patients with acute ischemic stroke and diabetes.

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Differences Between Perimenstrual Migraine Attacks and Migraine Attacks at Other Times of the Cycle

MacGregor, E. Anne MB, BS, MSc, MD, FFSRH

doi : 10.1212/WNL.0000000000012741

Volume 97(17), 26 October 2021, p e1753-e1756

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