Association of genetic variants in migraineurs with and without restless legs syndrome.

abstract：Objectives:The aim of this study was to investigate whether short-term inverse occlusion, combined with moderate physical exercise, could promote the recovery of visual acuity and stereopsis in a group of adult anisometropic amblyopes. Methods:Ten adult anisometropic patients underwent six brief (2 h) training session...

journal_title：Annals of clinical and translational neurology

authors： Lunghi C,Sframeli AT,Lepri A,Lepri M,Lisi D,Sale A,Morrone MC

更新日期：2018-12-28 00:00:00

abstract：Objective:We aimed to evaluate the impact of underlying mechanism of basilar artery (BA) occlusion on the outcomes after endovascular therapy (EVT) for reperfusion and the outcome factors associated with each mechanism, and to identify radiologic parameters enabling to distinguish the underlying mechanism. Methods:Fro...

journal_title：Annals of clinical and translational neurology

authors： Lee WJ,Jung KH,Ryu YJ,Kim JM,Lee ST,Chu K,Kim M,Lee SK,Sohn CH,Roh JK

更新日期：2018-01-30 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：OBJECTIVES:The distribution of pathology in neurodegenerative disease can be predicted by the organizational characteristics of white matter in healthy brains. However, we have very little evidence for the impact these pathological changes have on brain function. Understanding any such link between structure and functi...

journal_title：Annals of clinical and translational neurology

authors： McColgan P,Gregory S,Razi A,Seunarine KK,Gargouri F,Durr A,Roos RA,Leavitt BR,Scahill RI,Clark CA,Tabrizi SJ,Rees G,Track On‐HD Investigators.,Coleman A,Decolongon J,Fan M,Petkau T,Jauffret C,Justo D,Lehericy S,Ni

更新日期：2017-01-16 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:Clinical assessment of auditory attention in patients with disorders of consciousness is often limited by motor impairment. Here, we employ intersubject correlations among electroencephalography responses to naturalistic speech in order to assay auditory attention among patients and healthy controls. Methods...

journal_title：Annals of clinical and translational neurology

authors： Iotzov I,Fidali BC,Petroni A,Conte MM,Schiff ND,Parra LC

更新日期：2017-09-27 00:00:00

abstract：OBJECTIVE:Accurate representation of final infarct volume is essential for assessing the efficacy of stroke interventions in imaging-based studies. This study defines the impact of image registration methods used at different timepoints following stroke, and the implications for infarct definition in stroke research. ...

journal_title：Annals of clinical and translational neurology

authors： Harston GW,Minks D,Sheerin F,Payne SJ,Chappell M,Jezzard P,Jenkinson M,Kennedy J

更新日期：2017-01-20 00:00:00

abstract：OBJECTIVE:To evaluate the safety and efficacy of a plasmid (VM202) containing two human hepatocyte growth factor isoforms given by intramuscular injections in patients with painful diabetic neuropathy. METHODS:In a double-blind, placebo-controlled study, patients were randomized to receive injections of 8 or 16 mg VM2...

journal_title：Annals of clinical and translational neurology

authors： Kessler JA,Smith AG,Cha BS,Choi SH,Wymer J,Shaibani A,Ajroud-Driss S,Vinik A,VM202 DPN-II Study Group.

更新日期：2015-05-01 00:00:00

abstract：OBJECTIVE:To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. METHODS:We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 included 336 genes, which was increased to 464 genes in Version 2. Both panels used T...

journal_title：Annals of clinical and translational neurology

authors： Beecroft SJ,Yau KS,Allcock RJN,Mina K,Gooding R,Faiz F,Atkinson VJ,Wise C,Sivadorai P,Trajanoski D,Kresoje N,Ong R,Duff RM,Cabrera-Serrano M,Nowak KJ,Pachter N,Ravenscroft G,Lamont PJ,Davis MR,Laing NG

更新日期：2020-03-01 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：:Charcot-Marie-Tooth disease type-1A (CMT1A) is one of the most common types of inherited peripheral nerve diseases. It is caused by the trisomy of chromosome 17p12 (c17p12), a large DNA segment of 1.4 Mb containing PMP22 plus eight other genes. The size of c17p12 is formidable for any cloning technique to manipulate, ...

journal_title：Annals of clinical and translational neurology

authors： Li J

更新日期：2017-06-15 00:00:00

abstract：:Many observations suggest that mutations of mitochondrial DNA (mtDNA) could be responsible for the neurodegenerative changes of Alzheimer's disease (AD). Here we examined the signal intensity of the four alleles of each mtDNA nucleotide position (np) in whole blood of AD patients and age-matched controls using MitoChi...

journal_title：Annals of clinical and translational neurology

authors： Casoli T,Di Stefano G,Spazzafumo L,Balietti M,Giorgetti B,Giuli C,Postacchini D,Fattoretti P,Conti F

更新日期：2014-04-01 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

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: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：: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：:Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of t...

journal_title：Annals of clinical and translational neurology

authors： Antenora A,Rinaldi C,Roca A,Pane C,Lieto M,Saccà F,Peluso S,De Michele G,Filla A

更新日期：2017-08-10 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：: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：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:To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and further explore the phenotype-genotype relationship. METHODS:Patient 1 is a 23-year-old man with congenital foot deformity and life-long distal muscle weakness and atro...

journal_title：Annals of clinical and translational neurology

authors： Tian WT,Liu LH,Zhou HY,Zhang C,Zhan FX,Zhu ZY,Chen SD,Luan XH,Cao L

更新日期：2020-02-01 00:00:00

abstract：OBJECTIVE:Pathogenic variants in SCN8A, encoding the voltage-gated sodium (Na+) channel α subunit Nav1.6, is a known cause of epilepsy. Here, we describe clinical and genetic features of all patients with SCN8A epilepsy evaluated at a single-tertiary care center, with biophysical data on identified Nav1.6 variants and ...

journal_title：Annals of clinical and translational neurology

authors： Zaman T,Abou Tayoun A,Goldberg EM

更新日期：2019-08-01 00:00:00

abstract：OBJECTIVE:Epilepsy is a common neurological disorder that affects 1% of the population. Approximately, 30% of individuals with epilepsy are refractory to treatment, highlighting the need for novel therapies. Conventional anticonvulsant screening relies predominantly on induced seizure models. However, these models may ...

journal_title：Annals of clinical and translational neurology

authors： Hawkins NA,Anderson LL,Gertler TS,Laux L,George AL Jr,Kearney JA

更新日期：2017-04-26 00:00:00

abstract：OBJECTIVE:To evaluate the CSF levels of chitinase proteins during the presymptomatic and early symptomatic phases of amyotrophic lateral sclerosis (ALS). METHODS:CSF samples were obtained from 16 controls, 55 individuals at-risk for ALS (including 18 carrying a mutation in C9ORF72, 33 in SOD1), 12 ALS patients, and 7 ...

journal_title：Annals of clinical and translational neurology

authors： Gray E,Thompson AG,Wuu J,Pelt J,Talbot K,Benatar M,Turner MR

更新日期：2020-08-01 00:00:00

abstract：Objective:Determining the sequence in which Huntington's disease biomarkers become abnormal can provide important insights into the disease progression and a quantitative tool for patient stratification. Here, we construct and present a uniquely fine-grained model of temporal progression of Huntington's disease from pr...

journal_title：Annals of clinical and translational neurology

authors： Wijeratne PA,Young AL,Oxtoby NP,Marinescu RV,Firth NC,Johnson EB,Mohan A,Sampaio C,Scahill RI,Tabrizi SJ,Alexander DC

更新日期：2018-04-02 00:00:00

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: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 objective of this study was to investigate the genetic etiology of the X-linked disorder "Hypomyelination of Early Myelinating Structures" (HEMS). METHODS:We included 16 patients from 10 families diagnosed with HEMS by brain MRI criteria. Exome sequencing was used to search for causal mutations. In silic...

journal_title：Annals of clinical and translational neurology

authors： Kevelam SH,Taube JR,van Spaendonk RM,Bertini E,Sperle K,Tarnopolsky M,Tonduti D,Valente EM,Travaglini L,Sistermans EA,Bernard G,Catsman-Berrevoets CE,van Karnebeek CD,Østergaard JR,Friederich RL,Fawzi Elsaid M,Schieving J

更新日期：2015-06-01 00:00:00

abstract：INTRODUCTION:Multiple sclerosis (MS) is an enigmatic autoimmune-driven inflammatory/demyelinating disease of the human central nervous system (CNS), affecting brain, spinal cord, and optic nerves. The cause of the disease is not known and the number of effective treatments is limited. Despite some clear successes, tran...

journal_title：Annals of clinical and translational neurology

authors： 't Hart BA,van Kooyk Y,Geurts JJ,Gran B

更新日期：2015-05-01 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