Shuai Yuan, Bowen Tang, Jie Zheng, Susanna C Larsson
OBJECTIVE: We conducted a Mendelian randomization study to disentangle the comparative effects of lipids and apolipoprotein on ischemic stroke. METHODS: Single-nucleotide polymorphisms (SNPs) associated with low- and high-density lipoprotein (LDL and HDL) cholesterol, triglycerides and apolipoprotein A-I and B (apoA-I and apoB) at the level of genome-wide significance (p<5×10-8 ) in the UK Biobank were used as instrumental variables. Summary-level data for ischemic stroke and its subtypes were obtained from the MEGASTROKE consortium with 514 791 individuals (60 341 ischemic stroke cases and 454 450 non-cases)...
September 27, 2020: Annals of Neurology
Vanessa B Leotti, Jeroen J de Vries, Camila M Oliveira, Eduardo P de Mattos, Gerard J Te Meerman, Ewout R Brunt, Harm H Kampinga, Laura Bannach Jardim, Dineke S Verbeek
OBJECTIVE: In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the expanded CAG repeat in ATXN3 is the causal mutation, and its length is the main factor in determining the age at onset (AO) of clinical symptoms. However, the contribution of the expanded CAG repeat length to the rate of disease progression after onset has remained a matter of debate, even though an understanding of this factor is crucial for experimental data on disease modifiers and their translation to clinical trials and their design...
September 25, 2020: Annals of Neurology
François Lechanoine, Antoine Listrat, Julien Francisco Zaldivar-Jolissaint, Emmanuel De Schlichting
No abstract text is available yet for this article.
September 22, 2020: Annals of Neurology
Diane D Shao, Christelle M Achkar, Abbe Lai, Siddharth Srivastava, Ryan N Doan, Lance H Rodan, Allen Y Chen, Annapurna Poduri, Edward Yang, Christopher A Walsh
OBJECTIVE: Congenital structural brain malformations have been described in patients with pathogenic PTEN variants, but the frequency of cortical malformations in PTEN variants and their impact on clinical phenotype are not well understood. Our goal was to systematically characterize brain malformations in patients with PTEN variants and assess the relevance of their brain malformations to clinical presentation. METHODS: We systematically searched a local radiology database for patients with pathogenic PTEN variants who had available brain magnetic resonance imaging (MRI)...
September 22, 2020: Annals of Neurology
Håkan Ashina, Afrim Iljazi, Haidar M Al-Khazali, Casper E Christensen, Faisal M Amin, Messoud Ashina, Henrik W Schytz
OBJECTIVE: To demonstrate that calcitonin gene-related peptide (CGRP) induces headache exacerbation with migraine-like features in patients with persistent post-traumatic headache (PTH) attributed to mild traumatic brain injury (TBI). METHODS: A randomized, double-blind, placebo-controlled, 2-way crossover study. Analyses were intention-to-treat. Eligible patients were aged 18 to 65 years and had a history of persistent PTH after mild TBI for at least 12 months...
September 21, 2020: Annals of Neurology
Toshihide Ogawa, Yosuke Wakutani, Shinya Fujii
No abstract text is available yet for this article.
September 21, 2020: Annals of Neurology
Alvaro Cobo-Calvo, Anne Ruiz, Fabien Rollot, Georgina Arrambide, Romain Deschamps, Elisabeth Maillart, Caroline Papeix, Bertrand Audoin, Anne Fabienne Lépine, Hélène Maurey, Helene Zephir, Damien Biotti, Jonathan Ciron, Francoise Durand-Dubief, Nicolas Collongues, Xavier Ayrignac, Pierre Labauge, Meyer Pierre, Eric Thouvenot, Bertrand Bourre, Alexis Montcuquet, Mikael Cohen, Philippe Horellou, Mar Tintoré, Jerome De Seze, Sandra Vukusic, Kumaran Deiva, Romain Marignier
OBJECTIVES: The main objective was to compare clinical features, disease course, myelin oligodendrocyte glycoprotein (MOG)-antibody (Ab) dynamics, between children and adults with MOG-Ab-associated disease (MOGAD). METHODS: Retrospective multicentric, national study including 98 children and 268 adults with MOGAD between January 2014, and September 2019. Cox's regression model for recurrent time-to-event data, and Kaplan-Meier curves for time to antibody negativity were performed for the objectives, respectively...
September 21, 2020: Annals of Neurology
Matthieu Talagas, Nicolas Lebonvallet, Raphael Leschiera, Gerard Sinquin, Philippe Elies, Marek Haftek, Jean-Pierre Pennec, Denis Ressnikoff, Veronica La Padula, Raphaele Le Garrec, Killian L'herondelle, Olivier Mignen, Laetitia Le Pottier, Nathalie Kerfant, Alexia Reux, Pascale Marcorelles, Laurent Misery
OBJECTIVE: Pain, temperature and itch are conventionally thought to be exclusively transduced by the intraepidermal nerve endings. While recent studies have shown that epidermal keratinocytes also participate in sensory transduction, the mechanism underlying keratinocyte communication with intraepidermal nerve endings remains poorly understood. We sought to demonstrate the synaptic character of the contacts between keratinocytes and sensory neurons and their involvement in sensory communication between keratinocytes and sensory neurons...
September 20, 2020: Annals of Neurology
Lunhao Shen, Changqing Jiang, Catherine S Hubbard, Jianxun Ren, Changgeng He, Danhong Wang, Louisa Dahmani, Yi Guo, Yiming Liu, Shujun Xu, Fangang Meng, Jianguo Zhang, Hesheng Liu, Luming Li
OBJECTIVE: Current understanding of the neuromodulatory effects of deep brain stimulation (DBS) on large-scale brain networks remains elusive, largely due to the lack of techniques that can reveal DBS-induced activity at the whole-brain level. Using a novel 3T-MRI compatible stimulator, we investigated whole-brain effects of subthalamic nucleus (STN) stimulation in patients with Parkinson's disease. METHODS: Fourteen patients received STN-DBS treatment and participated in a block-design fMRI experiment, wherein stimulations were delivered during "ON" blocks interleaved with "OFF" blocks...
September 20, 2020: Annals of Neurology
Yue Leng, Sarah F Ackley, M Maria Glymour, Kristine Yaffe, Willa D Brenowitz
Growing evidence has suggested an association between sleep duration and Alzheimer's disease (AD), but it is unclear if sleep duration is a manifestation of AD disease process. We studied whether genetic liability for AD predicts sleep duration using a genetic risk score for AD (AD-GRS), in 406,536 UK Biobank participants with European ancestry and without dementia at enrollment. Higher AD-GRS score was associated with shorter sleep (b= -0.014,95%CI:-0.022,-0.006), especially in those aged 55+. Using AD-GRS as an instrumental variable for AD diagnosis, incipient AD reduced sleep duration by 1...
September 20, 2020: Annals of Neurology
Maura Malpetti, Luca Passamonti, Timothy Rittman, P Simon Jones, Patricia Vázquez Rodríguez, W Richard Bevan-Jones, Young T Hong, Tim D Fryer, Franklin I Aigbirhio, John T O'Brien, James B Rowe
OBJECTIVE: We examined the relationship between tau pathology and neuroinflammation using [11 C]PK11195 and [18 F]AV-1451 PET in seventeen patients with progressive supranuclear palsy Richardson's syndrome (PSP). We tested the hypothesis that neuroinflammation and tau protein aggregation co-localize macroscopically, and correlate with clinical severity. METHODS: Non-displaceable binding potential (BPND ) for each ligand was quantified in 83 regions of interest (ROIs)...
September 20, 2020: Annals of Neurology
James A Varley, Magnus Andersson, Eleanor Grant, Antonio Berretta, Michael S Zandi, Vincent Bondet, Darragh Duffy, David Hunt, Fredrik Piehl, Patrick Waters, Sarosh R Irani
This study aimed to characterise both neuronal autoantibodies and levels of IFNα, two proposed causative agents in neuropsychiatric systemic lupus erythematosus (NPSLE). CSF and plasma from 35 SLE patients (15 with NPSLE) showed no antibodies against natively-expressed NMDA receptors, or the surface of live hippocampal neurons. By comparison to controls (n=104), SLE patient antibodies bound a peptide representing the extracellular domain of NMDARs (p<0.0001), however, binding was retained against rearranged peptides and no peptide (r=0...
September 19, 2020: Annals of Neurology
John R Ciotti, Elena Grebenciucova, Brandon P Moss, Scott D Newsome
No abstract text is available yet for this article.
September 19, 2020: Annals of Neurology
Patrick J Lao, José Gutierrez, David Keator, Batool Rizvi, Arit Banerjee, Kay C Igwe, Krystal K Laing, Mithra Sathishkumar, Fahmida Moni, Howard Andrews, Sharon Krinsky-McHale, Elizabeth Head, Joseph H Lee, Florence Lai, Michael A Yassa, H Diana Rosas, Wayne Silverman, Ira T Lott, Nicole Schupf, Adam M Brickman
OBJECTIVES: Adults with Down syndrome (DS) develop Alzheimer's disease (AD) pathology by their fifth decade. Compared with the general population, traditional vascular risks in adults with DS are rare, allowing examination of cerebrovascular disease in this population and insight into its role in AD without the confound of vascular risk factors. We examined in vivo MRI-based biomarkers of cerebrovascular pathology in adults with DS, and determined their cross-sectional relationship with age, beta-amyloid pathology, and mild cognitive impairment or clinical AD diagnostic status...
September 18, 2020: Annals of Neurology
Gabriel Broocks, Hannes Leischner, Uta Hanning, Fabian Flottmann, Tobias D Faizy, Gerhard Schön, Peter Sporns, Götz Thomalla, Shahmir Kamalian, Michael H Lev, Jens Fiehler, Andre Kemmling
PURPOSE: In acute ischemic stroke with unknown time of onset, MR-based diffusion-weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR) estimates lesion age to guide intravenous thrombolysis. CT-based quantitative net water uptake (NWU) may be a potential alternative. The purpose of this study was to directly compare CT-based NWU to MRI at identifying patients with lesion age <4.5h from symptom onset. METHODS: 50 acute anterior circulation stroke patients were analyzed with both imaging modalities at admission between 0...
September 16, 2020: Annals of Neurology
Linlin Wan, Zhao Chen, Na Wan, Mingjie Liu, Jin Xue, Hongsheng Chen, Youming Zhang, Yun Peng, Zhichao Tang, Yiqing Gong, Hongyu Yuan, Shang Wang, Qi Deng, Xuan Hou, Chunrong Wang, Huirong Peng, Yuting Shi, Linliu Peng, Lijing Lei, Ranhui Duan, Kun Xia, Rong Qiu, Lu Shen, Beisha Tang, Tetsuo Ashizawa, Hong Jiang
OBJECTIVE: A recessive biallelic repeat expansion, (AAGGG)exp , in the RFC1 gene has been reported to be a frequent cause of late-onset ataxia. For cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), the recessive biallelic (AAGGG)exp genotype was present in approximately 92% of cases. This study aimed to examine whether the pentanucleotide repeat (PNR) was related to multiple system atrophy (MSA) which shared a spectrum of symptoms with CANVAS. METHODS: In this study, we screened the pathogenic (AAGGG)exp repeat and five other PNRs in Chinese 104 sporadic adult-onset ataxia of unknown aetiology (SAOA) patients, 282 MSA patients and 203 unaffected individuals...
September 16, 2020: Annals of Neurology
Aaron M Tetreault, Tony Phan, Kalen J Petersen, Daniel O Claassen, Byran J Neth, Jonathan Graff-Radford, Franziska Albrecht, Klaus Fliessbach, Anja Schneider, Matthis Synofzik, Janine Diehl-Schmid, Markus Otto, Matthias L Schroeter, R Ryan Darby
OBJECTIVE: Perirolandic atrophy occurs in corticobasal syndrome (CBS) but is not specific vs. progressive supranuclear palsy (PSP). There is heterogeneity in the locations of atrophy outside perirolandic cortex and it remains unknown why atrophy in different locations would cause the same CBS-specific symptoms. In prior work, we used a wiring diagram of the brain called the human connectome to localize lesion-induced disorders to symptom-specific brain networks. Here, we use a similar technique termed atrophy network mapping to localize single-subject atrophy maps to symptom-specific brain networks...
September 15, 2020: Annals of Neurology
Giorgia Coratti, Sonia Messina, Simona Lucibello, Maria Carmela Pera, Jacqueline Montes, Amy Pasternak, Francesca Bovis Stat, Jessica Exposito Escudero, Elena Stacy Mazzone, Anna Mayhew, Allan M Glanzman, Sally Dunaway Young, Rachel Salazar, Tina Duong, Robert Muni Lofra, Roberto de Sanctis, Sara Carnicella, Evelin Milev, Matthew Civitello, Marika Pane, Mariacristina Scoto, Chiara Marini Bettolo, Laura Antonaci, Annalia Frongia, Maria Sframeli, Gian Luca Vita, Adele D'Amico, Marleen van den Hauwe, Emilio Albamonte, Nathalie Goemans, Basil T Darras, Enrico Bertini, Valeria Sansone, John Day, Andres Nascimento Osorio, Claudio Bruno, Francesco Muntoni, Darryl C De Vivo, Richard S Finkel, Eugenio Mercuri
No abstract text is available yet for this article.
September 14, 2020: Annals of Neurology
Dimitri Renard, Anne Le Floch, Camille Heitz
No abstract text is available yet for this article.
September 12, 2020: Annals of Neurology
Jarred Garfinkle, Ting Guo, Anne Synnes, Vann Chau, Helen M Branson, Steven Ufkes, Emily Wy Tam, Ruth E Grunau, Steven P Miller
OBJECTIVES: To examine the association between cerebellar hemorrhage (CBH) size and location and preschool-age neurodevelopment in very preterm neonates. METHODS: Preterm MRIs of 221 very preterm neonates (median GA 27.9) were manually segmented for CBH quantification and location. Neurodevelopmental assessments at chronological age 4.5 years included motor (MABC-2), visuomotor integration (Beery VMI-6), cognitive (WPPSI-III), and behavioral (CBCL) outcomes. Multivariable linear regression models examined the association between CBH size and 4...
September 12, 2020: Annals of Neurology
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