journal
https://read.qxmd.com/read/33463742/functional-imaging-of-bow-hunter-s-syndrome
#1
LETTER
Menno R Germans, Juliane Schweizer, Zsolt Kulcsar
No abstract text is available yet for this article.
January 19, 2021: Annals of Neurology
https://read.qxmd.com/read/33462829/reply-to-peripapillary-hyper-reflective-ovoid-masslike-structures-in-astronauts
#2
LETTER
Axel Petzold
No abstract text is available yet for this article.
January 18, 2021: Annals of Neurology
https://read.qxmd.com/read/33462823/biceps-activity-synchronous-with-inspiration-after-phrenic-nerve-transfer
#3
Alex Rebello, Neeraj Balaini, Sunil Gaba, Karthik V Mahesh
No abstract text is available yet for this article.
January 18, 2021: Annals of Neurology
https://read.qxmd.com/read/33462810/peripapillary-hyper-reflective-ovoid-masslike-structures-in-astronauts
#4
LETTER
Peter Wostyn, Charles Robert Gibson, Thomas H Mader
No abstract text is available yet for this article.
January 18, 2021: Annals of Neurology
https://read.qxmd.com/read/33459417/adoptive-transfer-of-jc-virus-specific-t-lymphocytes-for-the-treatment-of-progressive-multifocal-leukoencephalopathy
#5
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 evaluate preliminary efficacy of polyomavirus JC (JCPyV)-specific T cell therapy in a cohort of hematological patients with PML. METHODS: Between 2014 and 2019, nine patients with a diagnosis of "definite PML" according to the 2013 consensus showing progressive clinical deterioration received JCPyV-specific T cells (JCPyV-LTC)...
January 18, 2021: Annals of Neurology
https://read.qxmd.com/read/33452836/a-novel-homozygous-vps11-variant-may-cause-generalized-dystonia
#6
Edoardo Monfrini, Filippo Cogiamanian, Sabrina Salani, Letizia Straniero, Gigliola Fagiolari, Manuela Garbellini, Emma Carsana, Linda Borellini, Fabio Biella, Maurizio Moggio, Nereo Bresolin, Stefania Corti, Stefano Duga, Giacomo P Comi, Massimo Aureli, Alessio Di Fonzo
In this work we describe the association of a novel homozygous VPS11 variant with adult-onset generalized dystonia, providing a detailed clinical report and biological evidence of disease mechanism. Vps11 is a subunit of the HOPS complex, which promotes the fusion of late endosomes and autophagosomes with the lysosome. Functional studies on mutated fibroblasts showed marked lysosomal and autophagic abnormalities, which improved after overexpression of the wild type Vps11 protein. In conclusion, a deleterious VPS11 variant, damaging the autophagic and lysosomal pathways, is the probable genetic cause of a novel form of generalized dystonia...
January 16, 2021: Annals of Neurology
https://read.qxmd.com/read/33443317/med27-variansts-cause-developmental-delay-dystonia-and-cerebellar-hypoplasia
#7
Linyan Meng, Pirjo Isohanni, Yunru Shao, Brett H Graham, Scott E Hickey, Stephanie Brooks, Anu Suomalainen, Pascal Joset, Katharina Steindl, Anita Rauch, Annette Hackenberg, Frances A High, Amy Armstrong-Javors, Niccolò E Mencacci, Paulina Gonzàlez-Latapi, Walaa A Kamel, Jasem Y Al-Hashel, Bernabé I Bustos, Alejandro V Hernandez, Dimitri Krainc, Steven J Lubbe, Hilde Van Esch, Chiara De Luca, Katleen Ballon, Claudia Ravelli, Lydie Burglen, Leila Qebibo, Daniel G Calame, Tadahiro Mitani, Dana Marafi, Davut Pehlivan, Nebal Waill Saadi, Yavuz Sahin, Reza Maroofian, Stephanie Efthymiou, Henry Houlden, Shazia Maqbool, Fatima Rahman, Shen Gu, Jennifer E Posey, James R Lupski, Jill V Hunter, Michael F Wangler, Christopher J Carroll, Yaping Yang
The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing (ES) detected biallelic putative disease-causing variants in MED27, encoding Mediator Complex Subunit 27, in sixteen patients from eleven families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia...
January 14, 2021: Annals of Neurology
https://read.qxmd.com/read/33438240/multi-modal-biomarkers-quantify-recovery-in-autoimmune-autonomic-ganglionopathy
#8
Shiwen Koay, Ekawat Vichayanrat, Fion Bremner, Jalesh N Panicker, Bethan Lang, Michael P Lunn, Laura Watson, Gordon T Ingle, Ellen Merete Hagen, Patricia McNamara, Leslie Jacobson, Vincenzo Provitera, Maria Nolano, Angela Vincent, Christopher J Mathias, Valeria Iodice
OBJECTIVE: To evaluate patients with ganglionic acetylcholine receptor antibody (gAChR-Ab) positive autoimmune autonomic ganglionopathy using a multi-modal testing protocol to characterise their full clinical phenotype and explore biomarkers to quantify immunotherapy response. METHODS: Cohort study of thirteen individuals (seven female; 21-69 years) with autonomic failure and gAChR-Ab>100pM identified between 2005-2019. From 2018, all patients were longitudinally assessed with cardiovascular, pupillary, urinary, sudomotor, lacrimal and salivary testing, and COMPASS-31 autonomic symptom questionnaires...
January 13, 2021: Annals of Neurology
https://read.qxmd.com/read/33427313/the-antibodies-contributing-to-focal-epilepsy-signs-and-symptoms-aces-score
#9
Marienke A A M de Bruijn, Anna E M Bastiaansen, Hana Mojzisova, Agnes van Sonderen, Roland D Thijs, Marian J M Majoie, Rob P W Rouhl, Marleen H van Coevorden-Hameete, Juna M de Vries, Amaia Muñoz Lopetegi, B Roozenbeek, Marco W J Schreurs, Peter A E Sillevis Smitt, Maarten J Titulaer
OBJECTIVE: Diagnosing autoimmune encephalitis (AIE) is difficult in patients with less fulminant diseases, like epilepsy. However, recognition is important, as patients require immunotherapy. This study aims to identify antibodies in patients with focal epilepsy of unknown etiology, and to create a score to preselect patient requiring testing. METHODS: In this prospective, multicenter, cohort study, adults with focal epilepsy of unknown etiology, without recognized AIE, were included, between December 2014-2017, and followed for one year...
January 11, 2021: Annals of Neurology
https://read.qxmd.com/read/33426696/beware-of-optimism-bias-in-the-context-of-the-covid-19-pandemic
#10
EDITORIAL
Alvaro Pascual-Leone, Gabriele Cattaneo, Dídac Macià, Javier Solana, José M Tormos, David Bartrés-Faz
No abstract text is available yet for this article.
January 11, 2021: Annals of Neurology
https://read.qxmd.com/read/33421179/evaluation-of-adult-neurology-residency-program-websites
#11
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 programs' websites to determine their comprehensiveness in order to identify areas for improvement. METHODS: A list of adult neurology residency programs in the United States was compiled using information on the ERAS and FREIDA websites. A total of 24 website criteria covering educational, recruitment, and compensation content were assessed for comprehensiveness...
January 9, 2021: Annals of Neurology
https://read.qxmd.com/read/33415786/ca-v-%C3%AE-2%C3%AE-autoimmune-encephalitis-a-novel-antibody-and-its-characteristics
#12
Soon-Tae Lee, Byoung Ju Lee, Ji-Yeon Bae, Young Sook Kim, Do-Hyun Han, Hyun-Sook Shin, Soyun Kim, Dong-Kyu Park, Sang Won Seo, Kon Chu, Sang Kun Lee, Won-Kyung Ho
OBJECTIVE: Discovering novel antibody enables diagnosis and early treatment of the autoimmune encephalitis. We discovered a novel antibody targeting a synaptic receptor and characterized the pathogenic mechanism. METHOD: We screened for unknown antibodies in serum and CSF samples from autoimmune encephalitis patients. Samples with reactivity to rat brain sections and no reactivity to conventional antibody tests underwent further process for antibody discovery, using immunoprecipitation to primary neuronal cells, mass-spectrometry analysis, antigen-binding assay on antigen-overexpressed cell line, and electrophysiology assay with cultured hippocampal neurons...
January 7, 2021: Annals of Neurology
https://read.qxmd.com/read/33410532/tuber-locations-associated-with-infantile-spasms-map-to-a-common-brain-network
#13
Alexander L Cohen, Brechtje Pf Mulder, Anna K Prohl, Louis Soussand, Peter Davis, Mallory R Kroeck, Peter McManus, Ali Gholipour, Benoit Scherrer, E Martina Bebin, Joyce Y Wu, Hope Northrup, Darcy A Krueger, Mustafa Sahin, Simon K Warfield, Michael Fox, Jurriaan M Peters
OBJECTIVE: Approximately 50% of patients with Tuberous Sclerosis Complex develop infantile spasms, a sudden-onset epilepsy syndrome associated with poor neurological outcomes. While an increased burden of tubers confers an elevated risk of infantile spasms, it remains unknown whether some tuber locations confer higher risk than others. Here, we test whether tuber location and connectivity are associated with infantile spasms. METHODS: We segmented tubers from 123 children with (n=74) and without (n=49) infantile spasms from a prospective observational cohort...
January 7, 2021: Annals of Neurology
https://read.qxmd.com/read/33410190/axon-myelin-unit-blistering-as-early-event-in-ms-normal-appearing-white-matter
#14
Antonio Luchicchi, Bert 't Hart, Irene Frigerio, Anne-Marie van Dam, Laura Perna, Herman L Offerhaus, Peter K Stys, Geert J Schenk, Jeroen J G Geurts
OBJECTIVE: Multiple sclerosis (MS) is a chronic neuroinflammatory and neurodegenerative disease of unknown etiology. Although the prevalent view regards a CD4+ -lymphocyte autoimmune reaction against myelin at the root of the disease, recent studies propose autoimmunity as a secondary reaction to idiopathic brain damage. To gain knowledge about this possibility we investigated the presence of axonal and myelinic morphological alterations which could implicate imbalance of axon-myelin units as primary event in MS pathogenesis...
January 6, 2021: Annals of Neurology
https://read.qxmd.com/read/33410155/ball-valve-mechanism-of-colloid-cysts
#15
François Lechanoine, Arnaud Lazard, Julien Francisco Zaldivar-Jolissaint, Emmanuel De Schlichting
No abstract text is available yet for this article.
January 6, 2021: Annals of Neurology
https://read.qxmd.com/read/33394537/covid-19-and-the-risk-of-gbs
#16
LETTER
Simon Rinaldi
No abstract text is available yet for this article.
January 4, 2021: Annals of Neurology
https://read.qxmd.com/read/33389763/reply-to-covid-19-and-the-risk-of-gbs
#17
LETTER
Òscar Miró, Jesús Porta-Etessam, Juan González Del Castillo
No abstract text is available yet for this article.
January 2, 2021: Annals of Neurology
https://read.qxmd.com/read/33389754/the-effect-of-smn-gene-dosage-on-als-risk-and-disease-severity
#18
Matthieu Moisse, Ramona A J Zwamborn, Joke van Vugt, Rick van der Spek, Wouter van Rheenen, Brendan Kenna, Kristel Van Eijk, Kevin Kenna, Philippe Corcia, Philippe Couratier, Patrick Vourc'h, Orla Hardiman, Russell McLaughin, Marc Gotkine, Vivian Drory, Nicola Ticozzi, Vincenzo Silani, Mamede de Carvalho, Jesús S Mora Pardina, Monica Povedano, Peter M Andersen, Markus Weber, Nazli A Başak, Xiao Chen, Michael A Eberle, Ammar Al-Chalabi, Chris Shaw, Pamela J Shaw, Karen E Morrison, John E Landers, Jonathan D Glass, Wim Robberecht, Michael van Eberle, Leonard van den Berg, Jan Veldink, Philip Van Damme
OBJECTIVE: The role of Survival of Motor Neuron gene (SMN) in Amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN deficiency. METHODS: In this largest multicentre case control study to evaluate the effect of SMN1 and SMN2 copy numbers in ALS, we used whole genome sequencing data from Project MinE data freeze 2. SMN copy numbers of 6375 ALS patients and 2412 controls were called from whole genome sequencing data, and the reliability of the calls was tested with multiplex ligation-dependent probe amplification data...
January 2, 2021: Annals of Neurology
https://read.qxmd.com/read/33386648/neuro-ophthalmological-findings-in-early-fatal-familial-insomnia
#19
Vincenzo Mastrangelo, Elena Merli, Janet C Rucker, Eric R Eggenberger, David S Zee, Pietro Cortelli
Fatal familial insomnia (FFI) is a rare inherited prion disease characterized by sleep, autonomic and motor disturbances. Neuro-ophthalmological abnormalities have been reported at the onset of disease, though not further characterized. We analyzed video recordings of eye movements of six FFI patients from three unrelated kindreds, seen within six months from the onset of illness. Excessive saccadic intrusions was the most prominent finding. In patients with severe insomnia, striking saccadic intrusions are an early diagnostic clue for FFI...
January 2, 2021: Annals of Neurology
https://read.qxmd.com/read/33377539/serum-neurofilament-light-chain-levels-in-the-intensive-care-unit-comparison-between-severely-ill-patients-with-and-without-covid-19
#20
Raoul Sutter, Lisa Hert, Gian Marco De Marchis, Raphael Twerenbold, Ludwig Kappos, Yvonne Naegelin, Gabriela M Kuster, Pascal Benkert, Jasmin Jost, Aleksandra Maleska Maceski, Stephan Rüegg, Martin Siegemund, David Leppert, Sarah Tschudin-Sutter, Jens Kuhle
There is emerging evidence for multifarious neurological manifestations of COVID-19, while little is known whether they reflect structural damage to the nervous system. Serum neurofilament light chain (sNfL) is a specific biomarker of neuronal injury. We measured sNfL concentrations of 29 critically ill COVID-19 patients, 10 critically ill non-COVID-19 patients, and 259 healthy controls. After adjusting for neurological comorbidities and age, sNfL were higher in patients with COVID-19 versus both comparator groups...
December 30, 2020: Annals of Neurology
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