Jan Rusz, Jan Hlavnička, Michal Novotný, Tereza Tykalová, Amelie Pelletier, Jacques Montplaisir, Jean-Francois Gagnon, Petr Dušek, Andrea Galbiati, Sara Marelli, Paul C Timm, Luke N Teigen, Annette Janzen, Mahboubeh Habibi, Ambra Stefani, Evi Holzknecht, Klaus Seppi, Elisa Evangelista, Anna Laura Rassu, Yves Dauvilliers, Birgit Högl, Wolfgang Oertel, Erik K St Louis, Luigi Ferini-Strambi, Evžen Růžička, Ronald B Postuma, Karel Šonka
OBJECTIVE: This multilanguage study used simple speech recording and high-end pattern analysis to provide sensitive and reliable noninvasive biomarkers of prodromal versus manifest α-synucleinopathy in patients with idiopathic rapid eye movement sleep behavior disorder (iRBD) and early-stage Parkinson disease (PD). METHODS: We performed a multicenter study across the Czech, English, German, French, and Italian languages at 7 centers in Europe and North America...
July 2021: Annals of Neurology
Wolfgang Singer, Ann M Schmeichel, Mohammad Shahnawaz, James D Schmelzer, David M Sletten, Tonette L Gehrking, Jade A Gehrking, Anita D Olson, Mariana D Suarez, Pinaki P Misra, Claudio Soto, Phillip A Low
OBJECTIVE: To explore the role of alpha-synuclein (αSyn) oligomers and neurofilament light chain (NfL) in cerebrospinal fluid (CSF) of patients with pure autonomic failure (PAF) as markers of future phenoconversion to multiple system atrophy (MSA). METHODS: Well-characterized patients with PAF (n = 32) were enrolled between June 2016 and February 2019 at Mayo Clinic Rochester and followed prospectively with annual visits to determine future phenoconversion to MSA, Parkinson's disease (PD), or dementia with Lewy bodies (DLB)...
June 2021: Annals of Neurology
Pedro N Alves, Ana C Fonseca, Daniela P Silva, Matilde R Andrade, Teresa Pinho-E-Melo, Michel Thiebaut de Schotten, Isabel P Martins
OBJECTIVE: Knowing explicitly where we are is an interpretation of our spatial representations. Reduplicative paramnesia is a disrupting syndrome in which patients present a firm belief of spatial mislocation. Here, we studied the largest sample of patients with delusional misidentifications of space (ie, reduplicative paramnesia) after stroke to shed light on their neurobiology. METHODS: In a prospective, cumulative, case-control study, we screened 400 patients with acute right-hemispheric stroke...
June 2021: Annals of Neurology
Alvaro Sanchez-Larsen, Alessandro Principe, Miguel Ley, Javier Navarro-Cuartero, Rodrigo Rocamora
OBJECTIVE: The link between brain function and cardiovascular dynamics is an important issue yet to be elucidated completely. The insula is a neocortical brain area that is thought to have a cardiac chronotropic regulatory function, but its role in cardiac contractility is unknown. We aimed to analyze the variability in heart rate and cardiac contractility after functional activation of different insular regions through direct electrical stimulation (E-stim) in humans. METHODS: This was an observational, prospective study, including patients admitted for stereo-electroencephalographic recording because of refractory epilepsy, in whom the insular cortex was implanted...
June 2021: Annals of Neurology
Amanda Avona, Bianca N Mason, Carolina Burgos-Vega, Anahit H Hovhannisyan, Sergei N Belugin, Jennifer Mecklenburg, Vincent Goffin, Naureen Wajahat, Theodore J Price, Armen N Akopian, Gregory Dussor
OBJECTIVE: Migraine is three times more common in women. CGRP plays a critical role in migraine pathology and causes female-specific behavioral responses upon meningeal application. These effects are likely mediated through interactions of CGRP with signaling systems specific to females. Prolactin (PRL) levels have been correlated with migraine attacks. Here, we explore a potential interaction between CGRP and PRL in the meninges. METHODS: Prolactin, CGRP, and receptor antagonists CGRP8-37 or Δ1-9-G129R-hPRL were administered onto the dura of rodents followed by behavioral testing...
June 2021: Annals of Neurology
Yun-Chu Lin, Yi-Chen Lai, Ping Chou, Shu-Wei Hsueh, Tien-Hung Lin, Chen-Syuan Huang, Ren-Wei Wang, Ya-Chin Yang, Chung-Chin Kuo
OBJECTIVE: Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy frequently associated with multiple types of seizures. The classical Na+ channel inhibitors are in general ineffective against the seizures in LGS. Rufinamide is a new Na+ channel inhibitor, but approved for the treatment of LGS. This is not consistent with a choice of antiseizure drugs (ASDs) according to simplistic categorical grouping. METHODS: The effect of rufinamide on the Na+ channel, cellular discharges, and seizure behaviors was quantitatively characterized in native neurons and mammalian models of epilepsy, and compared with the other Na+ channel inhibitors...
June 2021: Annals of Neurology
Jason J S Barton, Paul J Ranalli
No abstract text is available yet for this article.
May 2021: Annals of Neurology
Marijne Vandebergh, Till F M Andlauer, Yuan Zhou, Klara Mallants, Friederike Held, Lilian Aly, Bruce V Taylor, Bernhard Hemmer, Bénédicte Dubois, An Goris
OBJECTIVE: Many multiple sclerosis (MS) genetic susceptibility variants have been identified, but understanding disease heterogeneity remains a key challenge. Relapses are a core feature of MS and a common primary outcome of clinical trials, with prevention of relapses benefiting patients immediately and potentially limiting long-term disability accrual. We aim to identify genetic variation associated with relapse hazard in MS by analyzing the largest study population to date. METHODS: We performed a genomewide association study (GWAS) in a discovery cohort and investigated the genomewide significant variants in a replication cohort...
May 2021: Annals of Neurology
Ian C Wenker, Frida A Teran, Eric R Wengert, Pravin K Wagley, Payal S Panchal, Elizabeth A Blizzard, Priyanka Saraf, Jacy L Wagnon, Howard P Goodkin, Miriam H Meisler, George B Richerson, Manoj K Patel
OBJECTIVE: Sudden unexpected death in epilepsy (SUDEP) is an unpredictable and devastating comorbidity of epilepsy that is believed to be due to cardiorespiratory failure immediately after generalized convulsive seizures. METHODS: We performed cardiorespiratory monitoring of seizure-induced death in mice carrying either a p.Arg1872Trp or p.Asn1768Asp mutation in a single Scn8a allele-mutations identified from patients who died from SUDEP-and of seizure-induced death in pentylenetetrazole-treated wild-type mice...
May 2021: Annals of Neurology
Ermelinda De Meo, Raffaello Bonacchi, Lucia Moiola, Bruno Colombo, Francesca Sangalli, Chiara Zanetta, Maria Pia Amato, Vittorio Martinelli, Maria Assunta Rocca, Massimo Filippi
OBJECTIVE: The purpose of this study was to assess early predictors of 9-year disability in pediatric patients with multiple sclerosis. METHODS: Clinical and magnetic resonance imaging (MRI) assessments of 123 pediatric patients with multiple sclerosis were obtained at disease onset and after 1 and 2 years. A 9-year clinical follow-up was also performed. Cox proportional hazard and multivariable regression models were used to assess independent predictors of time to first relapse and 9-year outcomes...
May 2021: Annals of Neurology
Laura Saari, Lauri Heiskanen, Maria Gardberg, Valtteri Kaasinen
Parkinson's disease and other Lewy body spectrum diseases (LBDs) are associated with a specific risk for clinical depression. In the present clinicopathological study with 73 patients with LBD, we observed that the substantia nigra pars compacta dopamine neuron density was markedly lower in patients who had comorbid depression antemortem than in nondepressed patients (1.52 vs 2.32 n/mm2 , p = 0.004). There were no differences in cognition, motor disease severity, antiparkinsonian medications, or disease duration between groups...
May 2021: Annals of Neurology
Andrew Hannaford, Nathan Pavey, Mehdi van den Bos, Nimeshan Geevasinga, Parvathi Menon, Jeremy M Shefner, Matthew C Kiernan, Steve Vucic
OBJECTIVE: The diagnosis of amyotrophic lateral sclerosis (ALS) remains problematic, with current diagnostic criteria (revised El Escorial [rEEC] and Awaji) being complex and prone to error. Consequently, the diagnostic utility of the recently proposed Gold Coast criteria was determined in ALS. METHODS: We retrospectively reviewed 506 patients (302 males, 204 females) to compare the diagnostic accuracy of the Gold Coast criteria to that of the Awaji and rEEC criteria (defined by the proportion of patients categorized as definite, probable, or possible ALS) in accordance with standards of reporting of diagnostic accuracy criteria...
May 2021: Annals of Neurology
Alexandra Litvinchuk, Tien-Phat V Huynh, Yang Shi, Rosemary J Jackson, Mary B Finn, Melissa Manis, Caroline M Francis, Ainsley C Tran, Patrick M Sullivan, Jason D Ulrich, Bradley T Hyman, Tracy Cole, David M Holtzman
OBJECTIVE: Apolipoprotein E (ApoE) genotype is the strongest genetic risk factor for late-onset Alzheimer's disease, with the ε4 allele increasing risk in a dose-dependent fashion. In addition to ApoE4 playing a crucial role in amyloid-β deposition, recent evidence suggests that it also plays an important role in tau pathology and tau-mediated neurodegeneration. It is not known, however, whether therapeutic reduction of ApoE4 would exert protective effects on tau-mediated neurodegeneration...
May 2021: Annals of Neurology
Sarah E Smith, Mary Gannotti, Edward A Hurvitz, Frances E Jensen, Linda E Krach, Michael C Kruer, Michael E Msall, Garey Noritz, Deepa S Rajan, Bhooma R Aravamuthan
Cerebral palsy (CP) neurologic care and research efforts typically focus on children. However, most people with CP are adults. Adults with CP are at increased risk of new neurologic conditions, such as stroke and myelopathy, that require ongoing neurologic surveillance to distinguish them from baseline motor impairments. Neurologic factors could also contribute to the motor function decline, chronic pain, and chronic fatigue that are commonly experienced by adults with CP. Based on a systematic literature review, we suggest (1) guidelines for neurologic surveillance and neurologist referral and (2) clinical research questions regarding the evolving neurologic risks for adults with CP...
May 2021: Annals of Neurology
Vanessa R Salasky, Deanna Saylor
We surveyed neurologists who completed a global health experience as residents or fellows to assess the impact of the experience. A total of 100% (n = 72) would recommend the experience to others. Most reported improved clinical (86%) and examination (82%) skills. All gained an understanding of different health care systems, and 83% reported deeper commitment to underserved populations. A total of 41 participants (57%) reported more judicious use of resources upon return to the United States. Global health electives had a positive impact on neurology trainees...
May 2021: Annals of Neurology
Melanie P Jensen, Benjamin Meir Jacobs, Ruth Dobson, Sara Bandres-Ciga, Cornelis Blauwendraat, Anette Schrag, Alastair J Noyce
OBJECTIVES: Patients with established Parkinson's disease (PD) display differences in peripheral blood markers of immune function, including leukocyte differential counts, compared with controls. These differences may be useful biomarkers to predict PD and may shed light on pathogenesis. We sought to identify whether peripheral immune dysregulation was associated with increased risk of subsequent PD diagnosis. METHODS: We examined the relationship between incident PD, baseline differential leukocyte count and other blood markers of acute inflammation in UK Biobank (UKB), a longitudinal cohort with ~500,000 participants...
April 2021: Annals of Neurology
Brian L Edlow, Lionel Naccache
No abstract text is available yet for this article.
April 2021: Annals of Neurology
Jason J S Barton, Paul J Ranalli
No abstract text is available yet for this article.
April 2021: Annals of Neurology
Giulia Berzero, Sabrina Basso, Luca Stoppini, Andrea Palermo, Anna Pichiecchio, Matteo Paoletti, Federica Lucev, Simonetta Gerevini, Andrea Rossi, Elisa Vegezzi, Luca Diamanti, Paola Bini, Matteo Gastaldi, Serena Delbue, Cesare Perotti, Elena Seminari, Maura Faraci, Mario Luppi, Fausto Baldanti, Marco Zecca, Enrico Marchioni, Patrizia Comoli
OBJECTIVE: Progressive multifocal leukoencephalopathy (PML) is still burdened by high mortality in a subset of patients, such as those affected by hematological malignancies. The aim of this study was to analyze the safety and carry out preliminary evaluation of the efficacy of polyomavirus JC (JCPyV)-specific T cell therapy in a cohort of hematological patients with PML. METHODS: Between 2014 and 2019, 9 patients with a diagnosis of "definite PML" according to the 2013 consensus who were showing progressive clinical deterioration received JCPyV-specific T cells...
April 2021: Annals of Neurology
David Daniel, Cayla Vila, Christopher R Leon Guerrero, Elias G Karroum
OBJECTIVE: Neurology residency program websites often serve as the initial face of a program for prospective residents early in the application process. We evaluated adult neurology residency program websites to determine their comprehensiveness to identify areas for improvement. METHODS: A list of adult neurology residency programs in the United States was compiled using information on the Electronic Residency Application Service (ERAS) and Fellowship and Residency Electronic Interactive Database (FREIDA) websites...
April 2021: Annals of Neurology
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