Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome.

abstract：OBJECTIVE:Multiple sclerosis (MS) is a heterogenous, inflammatory disease of the central nervous system. Microbiota alterations in MS versus healthy controls (HC) are observed, but results are inconsistent. We studied diversity, enterotypes, and specific gut microbial taxa variation between MS and HC, and between MS su...

journal_title：Annals of clinical and translational neurology

authors： Reynders T,Devolder L,Valles-Colomer M,Van Remoortel A,Joossens M,De Keyser J,Nagels G,D'hooghe M,Raes J

更新日期：2020-04-01 00:00:00

abstract：OBJECTIVE:Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established treatment after the failure to standard of care based on steroids and vigabatrin. Converging lines of evidence indicating a role of NR2B subunits of the N-methyl-D-aspartate (NMDA) receptor on the onset of spams in ISS patients,...

journal_title：Annals of clinical and translational neurology

authors： Auvin S,Dozières-Puyravel B,Avbersek A,Sciberras D,Collier J,Leclercq K,Mares P,Kaminski RM,Muglia P

更新日期：2020-03-01 00:00:00

abstract：:A 61-year-old man with past medical history significant for prediabetes, hyperlipidemia and high-grade prostate intraepithelial neoplasia presents with headaches for one month. Imaging of his brain reveals hydrocephalus and spine imaging reveals a cord lesion. These findings are discussed further in the case. ...

journal_title：Annals of clinical and translational neurology

authors： Yu M,Brooker S,Priyadarshini S

更新日期：2020-12-18 00:00:00

abstract：:Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in b...

journal_title：Annals of clinical and translational neurology

authors： Wang Y,Best A,Fernández-Torrón R,Alsaggaf R,Garcia-Puga M,Dagnall CL,Hicks B,Thompson M,Matheu Fernandez A,Zulaica Ijurco M,Greene MH,Lopez de Munain A,Gadalla SM

更新日期：2020-01-01 00:00:00

abstract：INTRODUCTION:Many patients suffering from migraine gain little relief from existing treatments partly because many existing acute and preventive therapies used in migraine have been adopted from other neurologic conditions such as depression or epilepsy. Here, we present data supporting a new migraine-specific target, ...

journal_title：Annals of clinical and translational neurology

authors： Waung MW,Akerman S,Wakefield M,Keywood C,Goadsby PJ

更新日期：2016-07-01 00:00:00

abstract：Objective:Intracerebral hemorrhage carries a high mortality and survivors are frequently left with significant disability. Immunological mechanisms may play an important role in hemorrhage-induced brain injury, however, research linking these mechanisms with clinical outcome remains limited. We aim to identify serum in...

journal_title：Annals of clinical and translational neurology

authors： Landreneau MJ,Mullen MT,Messé SR,Cucchiara B,Sheth KN,McCullough LD,Kasner SE,Sansing LH,Serum Markers After Spontaneous Cerebral Hemorrhage (SMASCH) Investigators.

更新日期：2018-07-03 00:00:00

abstract：Objective:The dominant model of cognitive impairment in focal epilepsy has emphasised structural bases for cognitive deficits. Current theories of cognition in the healthy brain emphasise the importance of the reweighting of brain network interactions in support of task performance. Here, we explore the hypothesis that...

journal_title：Annals of clinical and translational neurology

authors： Tailby C,Kowalczyk MA,Jackson GD

更新日期：2017-11-24 00:00:00

abstract：OBJECTIVE:To examine how urate concentrations are related to the risk of having possible REM sleep behavior disorder (pRBD) in a community-based cohort. METHODS:The study included 12,923 Chinese adults of the Kailuan Study, free of Parkinson disease (PD) and dementia. Plasma urate concentrations were measured in 2006,...

journal_title：Annals of clinical and translational neurology

authors： Shen Y,Li J,Schwarzschild M,Pavlova M,He S,Ascherio A,Wu S,Cui L,Gao X

更新日期：2019-12-01 00:00:00

abstract：OBJECTIVE:To investigate the effects of leptin on different T-cell populations, in order to gain more insight into the link between leptin and obesity. METHODS:Three hundred and nine RRMS patients and 322 controls participated in a cross-sectional survey, to confirm whether excess weight/obesity in adolescence or earl...

journal_title：Annals of clinical and translational neurology

authors： Marrodan M,Farez MF,Balbuena Aguirre ME,Correale J

更新日期：2020-12-28 00:00:00

abstract：:Radiation necrosis mostly occurs in and near the radiation field. We used magnetic resonance imaging to study radiation-induced necrosis of atypical onset, severity, and extent following stereotactic radiosurgery for a symptomatic arteriovenous malformation. Susceptibility-sensitive imaging, T1-relaxation, myelin wate...

journal_title：Annals of clinical and translational neurology

authors： Wiggermann V,Lapointe E,Litvin L,Graf C,Hernández-Torres E,McKenzie M,Vavasour IM,Laule C,MacMillan EL,Li DKB,Kolind SH,Rauscher A,Traboulsee AL

更新日期：2018-12-10 00:00:00

abstract：Background:There is currently no formal method for predicting the range expected in an individual's seizure counts. Having access to such a prediction would be of benefit for developing more efficient clinical trials, but also for improving clinical care in the outpatient setting. Methods:Using three independently col...

journal_title：Annals of clinical and translational neurology

authors： Goldenholz DM,Goldenholz SR,Moss R,French J,Lowenstein D,Kuzniecky R,Haut S,Cristofaro S,Detyniecki K,Hixson J,Karoly P,Cook M,Strashny A,Theodore WH

更新日期：2018-01-09 00:00:00

abstract：BACKGROUND:Frontotemporal dementia (FTD) is associated with complex changes in eating behavior and metabolism, which potentially affect disease pathogenesis and survival. It is currently not known if body composition changes and changes in fat deposition also exist in FTD, the relationship of these changes in eating be...

journal_title：Annals of clinical and translational neurology

authors： Ahmed RM,Landin-Romero R,Liang CT,Keogh JM,Henning E,Strikwerda-Brown C,Devenney EM,Hodges JR,Kiernan MC,Farooqi IS,Piguet O

更新日期：2019-09-01 00:00:00

abstract：:We report six adult patients with Tyrosinaemia type 1 (HT-1) who presented with recurrent porphyria-like neurological crises after discontinuation/interruption of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) treatment. The crises were life-threatening for some of the patients, with respiratory mus...

journal_title：Annals of clinical and translational neurology

authors： Dawson C,Ramachandran R,Safdar S,Murphy E,Swayne O,Katz J,Newsome PN,Geberhiwot T

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical SMA caused by recessive mutations in SMN1 is one of the most comm...

journal_title：Annals of clinical and translational neurology

authors： Sedghi M,Moslemi AR,Olive M,Etemadifar M,Ansari B,Nasiri J,Emrahi L,Mianesaz HR,Laing NG,Tajsharghi H

更新日期：2019-11-01 00:00:00

abstract：Objective:The genetic bases of Alzheimer's disease remain uncertain. An international effort to fully articulate genetic risks and protective factors is underway with the hope of identifying potential therapeutic targets and preventive strategies. The goal here was to identify and characterize the frequency and impact ...

journal_title：Annals of clinical and translational neurology

authors： Raghavan NS,Brickman AM,Andrews H,Manly JJ,Schupf N,Lantigua R,Wolock CJ,Kamalakaran S,Petrovski S,Tosto G,Vardarajan BN,Goldstein DB,Mayeux R,Alzheimer's Disease Sequencing Project.

更新日期：2018-05-24 00:00:00

abstract：OBJECTIVE:The precise pathogenesis or neural correlates underlying levodopa-induced dyskinesia (LID) remains poorly understood. There is growing evidence of the involvement of the cerebellum in Parkinson's disease (PD). The present study evaluated the role of motor cerebellar connectivity in determining vulnerability t...

journal_title：Annals of clinical and translational neurology

authors： Yoo HS,Choi YH,Chung SJ,Lee YH,Ye BS,Sohn YH,Lee JM,Lee PH

更新日期：2019-11-01 00:00:00

abstract：Objective:FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations. Method...

journal_title：Annals of clinical and translational neurology

authors： Pringsheim M,Mitter D,Schröder S,Warthemann R,Plümacher K,Kluger G,Baethmann M,Bast T,Braun S,Büttel HM,Conover E,Courage C,Datta AN,Eger A,Grebe TA,Hasse-Wittmer A,Heruth M,Höft K,Kaindl AM,Karch S,Kautzky T,Ko

更新日期：2019-03-03 00:00:00

abstract：OBJECTIVE:Analysis of the T-cell receptor (TCR) repertoire in the cerebrospinal fluid (CSF) of patients with multiple sclerosis (MS) can reveal antigen-specific immune responses potentially implicated in the disease process. We applied a new unbiased deep-sequencing method for TCR repertoire analysis to accurately meas...

journal_title：Annals of clinical and translational neurology

authors： de Paula Alves Sousa A,Johnson KR,Nicholas R,Darko S,Price DA,Douek DC,Jacobson S,Muraro PA

更新日期：2016-04-20 00:00:00

abstract：OBJECTIVE:To evaluate the effectiveness of levodopa-carbidopa intestinal gel (LCIG) as an add-on rescue therapy following deep brain stimulation (DBS) for treatment of motor fluctuations. BACKGROUND:Both DBS and LCIG are FDA-approved therapies for treatment of motor fluctuations in advanced PD. Few studies have examin...

journal_title：Annals of clinical and translational neurology

authors： Elkouzi A,Ramirez-Zamora A,Zeilman P,Barabas M,Eisinger RS,Malaty IA,Okun MS,Almeida L

更新日期：2019-10-01 00:00:00

abstract：OBJECTIVES:To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan. METHODS:Mutational analysis of the coding regions of CYP7B1 was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The diagnosis of SPG5 was...

journal_title：Annals of clinical and translational neurology

authors： Chou CT,Soong BW,Lin KP,Tsai YS,Jih KY,Liao YC,Lee YC

更新日期：2020-04-01 00:00:00

abstract：OBJECTIVE:Multiple sclerosis (MS) is an autoimmune demyelinating disorder, which is characterized by relapses and remissions. Serum neurofilament light chain (sNfL) is an emerging biomarker of disease activity but its clinical use is still limited. In this study, we aim to characterize the temporal association between ...

journal_title：Annals of clinical and translational neurology

authors： Rosso M,Gonzalez CT,Healy BC,Saxena S,Paul A,Bjornevik K,Kuhle J,Benkert P,Leppert D,Guttmann C,Bakshi R,Weiner HL,Chitnis T

更新日期：2020-06-01 00:00:00

abstract：:Three fundamental principals associated with aquatic therapy differentiate it with respect to exercise on land, and in air. These are buoyancy (reduction in weight of the body within the buoyant medium of water), viscosity (a "drag force" is generated when moving within water, when compared with the same movement in a...

journal_title：Annals of clinical and translational neurology

authors： Frohman AN,Okuda DT,Beh S,Treadaway K,Mooi C,Davis SL,Shah A,Frohman TC,Frohman EM

更新日期：2015-08-01 00:00:00

abstract：OBJECTIVES:To systematically review the literature on the neuropsychological, psychosocial, and functional profiles of patients with unruptured intracranial aneurysms. METHODS:This review was limited to peer-reviewed research articles that reported cognitive, psychosocial, and/or functional profiles of patients with u...

journal_title：Annals of clinical and translational neurology

authors： Bonares MJ,de Oliveira Manoel AL,Macdonald RL,Schweizer TA

更新日期：2014-03-01 00:00:00

abstract：OBJECTIVE:Brain involvement is a serious complication of HIV infection. The earliest changes in the brain, which represents an anatomic site for viral persistence, are largely unknown. METHODS:This investigation used quantitative Magnetic Resonance methodologies, including high resolution and diffusion tensor (DTI) im...

journal_title：Annals of clinical and translational neurology

authors： Ragin AB,Wu Y,Gao Y,Keating S,Du H,Sammet C,Kettering CS,Epstein LG

更新日期：2015-01-01 00:00:00

abstract：:Mutations in RNF216 have been found to be associated with autosomal recessive Huntington-like disorder. Here, we describe a patient with Huntington-like disorder caused by a novel de novo RNF216 mutation. The patient started to have choreatic movements of both hands, slowly progressing to head, face, and four extremit...

journal_title：Annals of clinical and translational neurology

authors： Chen KL,Zhao GX,Wang H,Wei L,Huang YY,Chen SD,Lin BY,Dong Q,Cui M,Yu JT

更新日期：2020-05-01 00:00:00

abstract：Objective:Limited attention has been given to ocular injuries associated with traumatic brain injury (TBI). The retina is an extension of the central nervous system and evaluation of ocular damage may offer a less-invasive approach to gauge TBI severity and response to treatment. We aim to characterize acute changes in...

journal_title：Annals of clinical and translational neurology

authors： Evans LP,Newell EA,Mahajan M,Tsang SH,Ferguson PJ,Mahoney J,Hue CD,Vogel EW 3rd,Morrison B 3rd,Arancio O,Nichols R,Bassuk AG,Mahajan VB

更新日期：2018-02-26 00:00:00

abstract：Objective:We present an exploratory study for identification of sex differences in imaging biomarkers that could further refine selection of patients for acute reperfusion therapy and trials based on sex and imaging targets. Methods:The Lesion Evolution in Stroke and Ischemia On Neuroimaging (LESION) study included co...

journal_title：Annals of clinical and translational neurology

authors： Dula AN,Luby M,King BT,Sheth SA,Magadán A,Davis LA,Gealogo GA,Merino JG,Hsia AW,Latour LL,Warach SJ,LESION Investigators.

更新日期：2019-02-21 00:00:00

abstract：:Mutations in MYH7 cause autosomal dominant Laing distal myopathy. We present a family with a previously reported deletion (c.5186_5188delAGA, p.K1729del). Muscle pathology in one family member was characterized by an inflammatory myopathy with rimmed vacuoles, increased MHC Class I expression, and perivascular and end...

journal_title：Annals of clinical and translational neurology

authors： Roda RH,Schindler AB,Blackstone C,Mammen AL,Corse AM,Lloyd TE

更新日期：2014-12-01 00:00:00

abstract：OBJECTIVE:To determine the frequency of distinctive EGFr cysteine altering NOTCH3 mutations in the 60,706 exomes of the exome aggregation consortium (ExAC) database. METHODS:ExAC was queried for mutations distinctive for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASI...

journal_title：Annals of clinical and translational neurology

authors： Rutten JW,Dauwerse HG,Gravesteijn G,van Belzen MJ,van der Grond J,Polke JM,Bernal-Quiros M,Lesnik Oberstein SA

更新日期：2016-09-28 00:00:00

abstract：Objective:The objective of this study was to evaluate prespecified and post hoc analyses in RENEW subgroups to identify participants more likely to benefit from opicinumab. Methods:RENEW assessed the efficacy/safety of opicinumab versus placebo in participants with a first unilateral acute optic neuritis (AON) episode...

journal_title：Annals of clinical and translational neurology

authors： Cadavid D,Balcer L,Galetta S,Aktas O,Ziemssen T,Vanopdenbosch LJ,Leocani L,Freedman MS,Plant GT,Preiningerova JL,Ziemssen F,Massacesi L,Chai Y,Xu L,RENEW Study Investigators.

更新日期：2018-08-15 00:00:00