Neeraj Kumar
Superficial siderosis of the central nervous system results from subpial hemosiderin deposition due to chronic low-grade bleeding into the subarachnoid space. The confluent and marginal subpial hemosiderin is best appreciated on iron-sensitive magnetic resonance imaging sequences. With widespread use of magnetic resonance imaging, the disorder is increasingly being recognized, including in asymptomatic individuals. Gait ataxia, often with hearing impairment is a common clinical presentation. A clinical history of subarachnoid hemorrhage is generally not present...
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
Sharan Paul, Warunee Dansithong, Karla P Figueroa, Mandi Gandelman, Daniel R Scoles, Stefan M Pulst
OBJECTIVE: Mutations in the ATXN2 gene (CAG expansions ≥32 repeats) can be a rare cause of Parkinson's disease and amyotrophic lateral sclerosis (ALS). We recently reported that the stress granule (SG) protein Staufen1 (STAU1) was overabundant in neurodegenerative disorder spinocerebellar ataxia type 2 (SCA2) patient cells, animal models, and ALS-TDP-43 fibroblasts, and provided a link between SG formation and autophagy. We aimed to test if STAU1 overabundance has a role in the pathogenesis of other neurodegenerative diseases...
June 2021: Annals of Neurology
David D Ward, Lindsay M K Wallace, Kenneth Rockwood
Risk factors for developing dementia from mild cognitive impairment (MCI) probably differ between MCI subtypes. We investigated how frailty relates to dementia risk in amnestic MCI (a-MCI; n = 2,799) and non-amnestic MCI (na-MCI; n = 629) in the National Alzheimer's Coordinating Center database. Although higher frailty increased dementia risk for people with either a-MCI or na-MCI, the larger risk was in na-MCI (interaction hazard ratio = 1.35 [95% confidence interval = 1.15-1.59], p < 0.001)...
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
Adeline L Goss, Rohini D Samudralwar, Rohit R Das, Avindra Nath
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
Ann H Tilton, Jessica S Sanders
No abstract text is available yet for this article.
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
Cornelis Blauwendraat, Hirotaka Iwaki, Mary B Makarious, Sara Bandres-Ciga, Hampton Leonard, Francis P Grenn, Julie Lake, Lynne Krohn, Manuela Tan, Jonggeol Jeff Kim, Jesse Raphael Gibbs, Dena G Hernandez, Jennifer A Ruskey, Lasse Pihlstrøm, Mathias Toft, Jacobus J van Hilten, Johan Marinus, Claudia Schulte, Kathrin Brockmann, Manu Sharma, Ari Siitonen, Kari Majamaa, Johanna Eerola-Rautio, Pentti J Tienari, Donald G Grosset, Suzanne Lesage, Jean-Christophe Corvol, Alexis Brice, Nick Wood, John Hardy, Ziv Gan-Or, Peter Heutink, Thomas Gasser, Huw R Morris, Alastair J Noyce, Mike A Nalls, Andrew B Singleton, Alastair J Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Demis A Kia, Manuela Tan, Henry Houlden, Catherine S Storm, Huw R Morris, Helene Plun-Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, John Quinn, Vivien Bubb, Kin Y Mok, Kerri J Kinghorn, Nicholas W Wood, Patrick Lewis, Sebastian R Schreglmann, Ruth Lovering, Lea R'Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott-Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Karen E Morrison, Carl Clarke, Kirsten Harvey, Benjamin M Jacobs, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean-Christophe Corvol, Maria Martinez, Claudia Schulte, Kathrin Brockmann, Javier Simón-Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Susanne A Schneider, Mark R Cookson, Sara Bandres-Ciga, Cornelis Blauwendraat, David W Craig, Kimberley Billingsley, Mary B Makarious, Derek P Narendra, Faraz Faghri, J Raphael Gibbs, Dena G Hernandez, Kendall Van Keuren-Jensen, Joshua M Shulman, Hirotaka Iwaki, Hampton L Leonard, Mike A Nalls, Laurie Robak, Jose Bras, Rita Guerreiro, Steven Lubbe, Timothy Troycoco, Steven Finkbeiner, Niccolo E Mencacci, Codrin Lungu, Andrew B Singleton, Sonja W Scholz, Xylena Reed, Ryan J Uitti, Owen A Ross, Francis P Grenn, Anni Moore, Roy N Alcalay, Zbigniew K Wszolek, Ziv Gan-Or, Guy A Rouleau, Lynne Krohn, Kheireddin Mufti, Jacobus J van Hilten, Johan Marinus, Astrid D Adarmes-Gómez, Miquel Aguilar, Ignacio Alvarez, Victoria Alvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal-Bernal, Marta Blazquez, Marta Bonilla-Toribio, Juan A Botía, María Teresa Boungiorno, Dolores Buiza-Rueda, Ana Cámara, Fátima Carrillo, Mario Carrión-Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta, Monica Diez-Fairen, Oriol Dols-Icardo, Jacinto Duarte, Raquel Duran, Francisco Escamilla-Sevilla, Mario Ezquerra, Cici Feliz, Manel Fernández, Rubén Fernández-Santiago, Ciara Garcia, Pedro García-Ruiz, Pilar Gómez-Garre, Maria Jose Gomez Heredia, Isabel Gonzalez-Aramburu, Ana Gorostidi Pagola, Janet Hoenicka, Jon Infante, Silvia Jesús, Adriano Jimenez-Escrig, Jaime Kulisevsky, Miguel A Labrador-Espinosa, Jose Luis Lopez-Sendon, Adolfo López de Munain Arregui, Daniel Macias, Irene Martínez Torres, Juan Marín, Maria Jose Marti, Juan Carlos Martínez-Castrillo, Carlota Méndez-Del-Barrio, Manuel Menéndez González, Marina Mata, Adolfo Mínguez, Pablo Mir, Elisabet Mondragon Rezola, Esteban Muñoz, Javier Pagonabarraga, Pau Pastor, Francisco Perez Errazquin, Teresa Periñán-Tocino, Javier Ruiz-Martínez, Clara Ruz, Antonio Sanchez Rodriguez, María Sierra, Esther Suarez-Sanmartin, Cesar Tabernero, Juan Pablo Tartari, Cristina Tejera-Parrado, Eduard Tolosa, Francesc Valldeoriola, Laura Vargas-González, Lydia Vela, Francisco Vives, Alexander Zimprich, Lasse Pihlstrom, Mathias Toft, Pille Taba, Sulev Koks, Sharon Hassin-Baer, Kari Majamaa, Ari Siitonen, Pentti Tienari, Njideka U Okubadejo, Oluwadamilola O Ojo, Rauan Kaiyrzhanov, Chingiz Shashkin, Nazira Zharkinbekova, Vadim Akhmetzhanov, Gulnaz Kaishybayeva, Altynay Karimova, Talgat Khaibullin, Timothy L Lynch
OBJECTIVE: Parkinson's disease (PD) is a complex neurodegenerative disorder. Males are on average ~ 1.5 times more likely to develop PD compared to females with European ancestry. Over the years genome-wide association studies (GWAS) have identified numerous genetic risk factors for PD, however it is unclear whether genetics contribute to disease etiology in a sex-specific manner. METHODS: In an effort to study sex-specific genetic factors associated with PD, we explored two large genetic datasets from the International Parkinson's Disease Genomics Consortium and the UK Biobank consisting of 13,020 male PD cases, 7,936 paternal proxy cases, 89,660 male controls, 7,947 female PD cases, 5,473 maternal proxy cases and 90,662 female controls...
April 26, 2021: Annals of Neurology
Shinji Izuka, Toshiaki Kobayashi, Yuko Takahashi
No abstract text is available yet for this article.
April 21, 2021: Annals of Neurology
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