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
Baskin, Patricia K. MS; Swendsrud, Kristen BA; Rahkola, Andrea BA, ELS; Merino, Jose G. MD, MPhil
Berg, Anne T. PhD *; Gaillard, William D. MD *
Peters, Nils MD; Nacmias, Benedetta PhD
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.
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.
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.
Murphy, Olwen C. MBBCh, MD, MRCPI; Calabresi, Peter A. MD; Gold, Daniel R. DO
Siegler, James E. MD; Galetta, Steven MD, FAAN
Schon, Katherine; Chinnery, Patrick
Davis, Ryan L.; Kumar, Kishore R.; Watson, Eloise C.; Sue, Carolyn M.
Siegler, James E. MD; Galetta, Steven MD, FAAN
Machado, Calixto
Frontera, Jennifer
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.
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
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.
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.
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.
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).
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.
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.
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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