ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin ‐Responsive Multiple Acyl–Coenzyme A Dehydrogenation Deficiency
Annals of Neurology, EarlyView. (Source: Annals of Neurology)
Source: Annals of Neurology - October 19, 2018 Category: Neurology Authors: Jingwen Xu,
Duoling Li,
Jingwei Lv,
Xuebi Xu,
Bing Wen,
Pengfei Lin,
Fuchen Liu,
Kunqian Ji,
Jingli Shan,
Honghao Li,
Wei Li,
Yuying Zhao,
Dandan Zhao,
Joo Y. Pok,
Chuanzhu Yan Source Type: research
Levodopa ‐induced dyskinesia in Parkinson's disease: sleep matters
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - October 17, 2018 Category: Neurology Authors: Ninfa Amato,
Mauro Manconi,
Jens C. M öller,
Simone Sarasso,
Paolo Stanzione,
Claudio Staedler,
Alain Kaelin‐Lang,
Salvatore Galati Tags: Research Article Source Type: research
Levodopa ‐induced dyskinesia in Parkinson's disease: sleep matters
Annals of Neurology,Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - October 17, 2018 Category: Neurology Authors: Ninfa Amato,
Mauro Manconi,
Jens C. M öller,
Simone Sarasso,
Paolo Stanzione,
Claudio Staedler,
Alain Kaelin‐Lang,
Salvatore Galati Source Type: research
Efficacy of Botulinum Toxin A for Treating Cramps in Diabetic Neuropathy
ObjectiveMuscle cramps occur in>50% of diabetic patients and reduce the quality of life. No effective treatment is available. We evaluated the clinical effectiveness of botulinum toxin A (BTX ‐A) injections for treating cramps in diabetic patients with neuropathy.MethodsThis single ‐center, double‐blind, placebo‐controlled perspective study investigated the efficacy and safety of BTX‐A intramuscular injection for treating calf or foot cramps refractory to common pharmacological drugs. Fifty diabetic patients with peripheral neuropathy and cramps were randomly assigned to 2 matched groups. BTX‐A (100 or 30 un...
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Domenico A. Restivo,
Antonino Casabona,
Lucia Frittitta,
Antonino Belfiore,
Rosario Le Moli,
Damiano Gullo,
Riccardo Vigneri Tags: Research Article Source Type: research
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
ObjectiveFacioscapulohumeral dystrophy (FSHD) is one of the most frequent heritable muscular dystrophies, with a large variety in age at onset and disease severity. The natural history and molecular characteristics of FSHD in childhood are incompletely understood. Our objective is to clinically and genetically characterize FSHD in childhood.MethodsWe performed a nationwide, single ‐investigator, natural history study on FSHD in childhood.ResultsMultiple ‐source recruitment resulted in 32 patients with FSHD (0–17 years), leading to an estimated prevalence of 1 in 100,000 children in The Netherlands. This series of 32 ...
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Rianne J.M. Goselink,
Tim H.A. Schreuder,
Nens van Alfen,
Imelda J.M. de Groot,
Merel Jansen,
Richard J.L.F. Lemmers,
Patrick J. van der Vliet,
Nienke van der Stoep,
Thomas Theelen,
Nicol C. Voermans,
Silv ère M. van der Maarel,
Baziel G.M. va Tags: Research Article Source Type: research
Expanded disability status scale progression assessment heterogeneity in multiple sclerosis according to geographical areas
Using placebo data from 3 randomized multiple sclerosis (MS) trials with uniform inclusion criteria, we investigated heterogeneity of Expanded Disability Status Scale (EDSS) progression by geographical areas. Our analysis revealed a significantly lower EDSS progression in Eastern European countries (10.8%) compared with Western Europe (13.1%) or the USA/Canada (21.4%,p < 0.001); EDSS improvement behaved the same way. This heterogeneity is not explained by differences of baseline variables. No differences were detected on more easily quantifiable measures, the Timed 25‐Foot Walk or the Multiple Sclerosis Functiona...
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Francesca Bovis,
Alessio Signori,
Luca Carmisciano,
Ilaria Maietta,
Joshua R. Steinerman,
Thomas Li,
Aaron P. Tansy,
Maria Pia Sormani Tags: Brief Communication Source Type: research
Cerebrospinal fluid vasopressin and symptom severity in children with autism
Autism is a brain disorder characterized by social impairments. Progress in understanding autism has been hindered by difficulty in obtaining brain ‐relevant tissues (eg, cerebrospinal fluid [CSF]) by which to identify markers of disease and targets for treatment. Here, we overcome this barrier by providing evidence that mean CSF concentration of the “social” neuropeptide arginine vasopressin (AVP) is lower in children with autism versus controls. CSF AVP concentration also significantly differentiates individual cases from controls and is associated with greater social symptom severity in children with autism. These...
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Ozge Oztan,
Joseph P. Garner,
Sonia Partap,
Elliott H. Sherr,
Antonio Y. Hardan,
Cristan Farmer,
Audrey Thurm,
Susan E. Swedo,
Karen J. Parker Tags: Brief Communication Source Type: research
Hypoperfusion ratio predicts infarct growth during transfer for thrombectomy
We hypothesized that automated assessment of collaterals on computed tomography perfusion can predict the rate of infarct growth during transfer from a primary to a comprehensive stroke center for endovascular stroke treatment. We identified consecutive patients (N = 28) and assessed their collaterals based on the hypoperfusion intensity ratio (HIR) prior to transfer. Infarct growth rate was strongly correlated with HIR (r = 0.78,p < 0.001). Receiver operating characteristic analysis identified HIR ≥ 0.5 as optimal for predicting infarct growth. Patients with HIR ≥ 0.5 had a median infarct grow...
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Adrien Guenego,
Michael Mlynash,
Soren Christensen,
Stephanie Kemp,
Jeremy J. Heit,
Maarten G. Lansberg,
Gregory W. Albers Tags: Brief Communication Source Type: research
Annals of Neurology: Volume 84, Number 4, October 2018
A computer ‐generated 3D reconstruction of the location of a pair of stimulating electrodes implanted in the internal segment of the globus pallidus (light green) and the border between the ventral oral internal (tan) and the centromedian nucleus (dark green) of the thalamus in a patient with Tourette syndro me. Simultaneous recording of local field potentials at both sites demonstrated oscillations that may be implicated in the pathophysiology of Tourette syndrome. (See Neumann et al., pageshttp://dx.doi.org/10.1002/ana.25311505 –514) (Source: Annals of Neurology)
Source: Annals of Neurology - October 16, 2018 Category: Neurology Tags: Cover Image Source Type: research
Issue Information
Annals of Neurology, Volume 84, Issue 4, Page i-v, October 2018. (Source: Annals of Neurology)
Source: Annals of Neurology - October 16, 2018 Category: Neurology Tags: Issue Information Source Type: research
Is it time to reconsider the classic neurological examination?
Annals of Neurology, Volume 84, Issue 4, Page 483-484, October 2018. (Source: Annals of Neurology)
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Clifford B. Saper Tags: Editorial Source Type: research
Cross ‐sectional study of a United Kingdom cohort of neonatal vein of galen malformation
ObjectiveDescribe the course and outcomes in a UK national cohort of neonates with vein of Galen malformation identified before 28 days of life.MethodsNeonates with angiographically confirmed vein of Galen malformation presenting to 1 of 2 UK treatment centers (2006 –2016) were included; those surviving were invited to participate in neurocognitive assessment. Results in each domain were dichotomized into “good” and “poor” categories. Cross‐sectional and angiographic brain imaging studies were systematically interrogated. Logistic regression was use d to explore potential outcome predictors.ResultsOf 85 childre...
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Francesca Lecce,
Fergus Robertson,
Adam Rennie,
Anne ‐Marie Heuchan,
Paula Lister,
Sanjay Bhate,
Jo Bhattacharya,
Stefan Brew,
Lakshmi Kanagarajah,
Adam Kuczynski,
Mark J. Peters,
Deborah Ridout,
Anne Schmitt,
Claire Toolis,
Faraneh Vargha Tags: Research Article Source Type: research
Evaluation of no evidence of progression or active disease (NEPAD) in patients with primary progressive multiple sclerosis in the ORATORIO trial
ObjectiveNo evidence of progression or active disease (NEPAD) is a novel combined endpoint defined by the absence of both progression and inflammatory disease activity in primary progressive multiple sclerosis (PPMS). In the placebo ‐controlled phase III ORATORIO study (NCT01194570), we investigated the effect of ocrelizumab on this comprehensive outcome and its components in a post‐hoc analysis.MethodsThe proportion of patients with NEPAD (no evidence of progression [NEP; no 12 ‐week confirmed progression of ≥1/≥0.5 points on the Expanded Disability Status Scale if the baseline score was ≤5.5/>5.5 points, r...
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Jerry S. Wolinsky,
Xavier Montalban,
Stephen L. Hauser,
Gavin Giovannoni,
Patrick Vermersch,
Corrado Bernasconi,
Gurpreet Deol ‐Bhullar,
Hideki Garren,
Peter Chin,
Shibeshih Belachew,
Ludwig Kappos Tags: Research Article Source Type: research
Event ‐related deep brain stimulation of the subthalamic nucleus affects conflict processing
ObjectiveMany lines of evidence suggest that response conflict recruits brain regions in the cortical –basal ganglia system. Within the basal ganglia, deep brain recordings from the subthalamic nucleus (STN) have shown that conflict triggers a transient increase in low‐frequency oscillations (LFOs; 2–8Hz). Here, we deployed a new method of delivering short trains of event‐related deep brain stimulation (DBS) to the STN to test the causal role of the STN and its associated circuits in conflict‐related processing.MethodsIn a double ‐blind design, we stimulated the STN in patients with Parkinson disease by locking...
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Ayda Ghahremani,
Adam R. Aron,
Kaviraja Udupa,
Utpal Saha,
Duemani Reddy,
William D. Hutchison,
Suneil K. Kalia,
Mojgan Hodaie,
Andres M. Lozano,
Robert Chen Tags: Research Article Source Type: research
Neurotoxicity after CTL019 in a pediatric and young adult cohort
ObjectiveTo characterize the incidence and clinical characteristics of neurotoxicity in the month following CTL019 infusion in children and young adults, to define the relationship between neurotoxicity and cytokine release syndrome (CRS), and to identify predictive biomarkers for development of neurotoxicity following CTL019 infusion.MethodsWe analyzed data on 51 subjects, 4 to 22 years old, who received CTL019, a chimeric antigen receptor –modified T‐cell therapy against CD19, between January 1, 2010 and December 1, 2015 through a safety/feasibility clinical trial (NCT01626495) at our institution. We recorded inciden...
Source: Annals of Neurology - October 16, 2018 Category: Neurology Authors: Jacqueline S. Gofshteyn,
Pamela A. Shaw,
David T. Teachey,
Stephan A. Grupp,
Shannon Maude,
Brenda Banwell,
Fang Chen,
Simon F. Lacey,
Jan J. Melenhorst,
MacKenzie J. Edmonson,
Jessica Panzer,
David M. Barrett,
Jennifer L. McGuire Tags: Research Article Source Type: research
