CCL2 and CXCL10 are associated with poor outcome after intracerebral hemorrhage.

abstract：Objective:Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy ( CADASIL) caused by NOTCH3 mutations vary between ethnicities and regions. In Taiwan, more than 70% of CADASIL patients carry the mutation hot spot of p.R544C. We investigated the prevalence of NOTCH3 p.R544...

journal_title：Annals of clinical and translational neurology

authors： Tang SC,Chen YR,Chi NF,Chen CH,Cheng YW,Hsieh FI,Hsieh YC,Yeh HL,Sung PS,Hu CJ,Chern CM,Lin HJ,Lien LM,Peng GS,Chiou HY,Jeng JS

更新日期：2018-11-20 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：INTRODUCTION:The brittle response (BR) in patients with Parkinson's disease (PD) refers to a special type of levodopa-induced dyskinesia (LID). This study aimed to describe the clinical characteristics of BR patients and to analyze the associated risk factors. METHODS:A retrospective study was conducted to analyze the...

journal_title：Annals of clinical and translational neurology

authors： Yan Y,Li Y,Liu X,Zhang L,Wang L,Chang Y

更新日期：2020-05-01 00:00:00

abstract：OBJECTIVE:To examine whether apolipoprotein B (ApoB), apolipoprotein A-1 (ApoA1), or their ratio (ApoB/A1) were associated with early changes in cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) pathology in elderly adults with subjective cognitive decline (SCD). METHODS:This study included 507 objectiv...

journal_title：Annals of clinical and translational neurology

authors： Hu H,Tan L,Bi YL,Xu W,Tan L,Shen XN,Hou XH,Ma YH,Dong Q,Yu JT

更新日期：2020-10-01 00:00:00

abstract：Objective:To determine the cognitive profile of adult patients with mitochondrial disease, and the effect of disease severity on cognition. Methods:Using a prospective case-control design, we compared cognition of patients to normative data and to matched controls, assessed three times over 18 months. Forty-nine patie...

journal_title：Annals of clinical and translational neurology

authors： Moore HL,Kelly T,Bright A,Field RH,Schaefer AM,Blain AP,Taylor RW,McFarland R,Turnbull DM,Gorman GS

更新日期：2019-03-27 00:00:00

abstract：Objective:GDP-mannose pyrophosphorylase B (GMPPB) related phenotype spectrum ranges widely from congenital myasthenic syndrome (CMS), limb-girdle muscular dystrophy type 2T (LGMD 2T) to severe congenital muscle-eye-brain syndrome. Our study investigates the clinicopathologic features of a patient with novel GMPPB mutat...

journal_title：Annals of clinical and translational neurology

authors： Tian WT,Zhou HY,Zhan FX,Zhu ZY,Yang J,Chen SD,Luan XH,Cao L

更新日期：2019-05-08 00:00:00

abstract：OBJECTIVE:The mechanism of action of anti-B cell therapy in multiple sclerosis (MS) is not fully understood. Here, we compared the effect of anti-CD20 therapy on microglial activation in two distinct focal rat models of MS. METHODS:The effect of anti-CD20 therapy on lesion formation and extralesional microglial activa...

journal_title：Annals of clinical and translational neurology

authors： Anthony DC,Dickens AM,Seneca N,Couch Y,Campbell S,Checa B,Kersemans V,Warren EA,Tredwell M,Sibson NR,Gouverneur V,Leppert D

更新日期：2014-09-01 00:00:00

abstract：OBJECTIVE:Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable c...

journal_title：Annals of clinical and translational neurology

authors： Van Maldergem L,Besse A,De Paepe B,Blakely EL,Appadurai V,Humble MM,Piard J,Craig K,He L,Hella P,Debray FG,Martin JJ,Gaussen M,Laloux P,Stevanin G,Van Coster R,Taylor RW,Copeland WC,Mormont E,Bonnen PE

更新日期：2016-11-16 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：OBJECTIVE:The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6. More than 20% of patients have recurrent mutations in residues Arg1617 or Arg1872. Our goal was to determine the functional effects of ...

journal_title：Annals of clinical and translational neurology

authors： Wagnon JL,Barker BS,Hounshell JA,Haaxma CA,Shealy A,Moss T,Parikh S,Messer RD,Patel MK,Meisler MH

更新日期：2015-12-21 00:00:00

abstract：OBJECTIVE:Pathogenesis in facioscapulohumeral muscular dystrophy (FSHD) appears to be due to aberrant expression, particularly in skeletal muscle nuclei, of the full-length isoform of DUX4 (DUX4-FL). Expression of DUX4-FL is known to alter gene expression and to be cytotoxic, but cell responses to DUX4-FL are not fully...

journal_title：Annals of clinical and translational neurology

authors： Homma S,Beermann ML,Boyce FM,Miller JB

更新日期：2015-02-01 00:00:00

abstract：:The precise genetic cause remains elusive in nearly 50% of patients with presumed neurogenetic disease, representing a significant barrier for clinical care. This is despite significant advances in clinical genetic diagnostics, including the application of whole-exome sequencing and next-generation sequencing-based ge...

journal_title：Annals of clinical and translational neurology

authors： Gonorazky H,Liang M,Cummings B,Lek M,Micallef J,Hawkins C,Basran R,Cohn R,Wilson MD,MacArthur D,Marshall CR,Ray PN,Dowling JJ

更新日期：2015-12-08 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：:Aicardi-Goutières syndrome is a leukoencephalopathy with calcifications and increased cerebrospinal fluid interferon-α. The relation between interferon-α and brain pathology is poorly understood. We report a patient with mutations in the disease-associated gene SAMHD1. Neuropathology showed an extensive microangiopath...

journal_title：Annals of clinical and translational neurology

authors： Klok MD,Bakels HS,Postma NL,van Spaendonk RM,van der Knaap MS,Bugiani M

更新日期：2015-07-01 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：OBJECTIVE:Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothes...

journal_title：Annals of clinical and translational neurology

authors： Narita A,Shirai K,Itamura S,Matsuda A,Ishihara A,Matsushita K,Fukuda C,Kubota N,Takayama R,Shigematsu H,Hayashi A,Kumada T,Yuge K,Watanabe Y,Kosugi S,Nishida H,Kimura Y,Endo Y,Higaki K,Nanba E,Nishimura Y,Tamasa

更新日期：2016-02-02 00:00:00

abstract：:To search for discriminating biomarkers, 30 patients with idiopathic rapid-eye-movements sleep behavior disorder (iRBD) were compared with 17 patients with RBD within narcolepsy type 1. Both groups underwent extensive examinations, including skin biopsy searching for phosphorylated α-synuclein deposits and whole-night...

journal_title：Annals of clinical and translational neurology

authors： Antelmi E,Pizza F,Donadio V,Filardi M,Sosero YL,Incensi A,Vandi S,Moresco M,Ferri R,Marelli S,Ferini-Strambi L,Liguori R,Plazzi G

更新日期：2019-09-01 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:Several single-nucleotide polymorphisms (SNPs) are associated with restless legs syndrome (RLS). This study investigated whether or not additional SNP variants increase the risk of RLS in migraineurs and in migraine with aura (MA) and migraine without aura (MoA) subgroups. METHODS:Migraineurs with and withou...

journal_title：Annals of clinical and translational neurology

authors： Lin GY,Lin YK,Liang CS,Lee JT,Tsai CL,Hung KS,Luo WJ,Tsai CK,Hsu YW,Ho TH,Yang FC

更新日期：2020-10-01 00:00:00

abstract：OBJECTIVE:Oxidative stress in the brain is highly prevalent in many neurodegenerative disorders including lysosomal storage disorders, in which neurodegeneration is a devastating manifestation. Despite intense studies, a precise mechanism linking oxidative stress to neuropathology in specific neurodegenerative diseases...

journal_title：Annals of clinical and translational neurology

authors： Peng S,Xu J,Pelkey KA,Chandra G,Zhang Z,Bagh MB,Yuan X,Wu LG,McBain CJ,Mukherjee AB

更新日期：2015-11-06 00:00:00

abstract：Objective:Immunological studies have demonstrated a plethora of beneficial effects of dimethyl fumarate (DMF) on various cell types. However, the cellular and molecular targets are incompletely understood and response markers are scarce. Here, we focus on the relation between nuclear factor (erythroid-derived 2)-like 2...

journal_title：Annals of clinical and translational neurology

authors： Hammer A,Waschbisch A,Kuhbandner K,Bayas A,Lee DH,Duscha A,Haghikia A,Gold R,Linker RA

更新日期：2018-04-16 00:00:00

abstract：OBJECTIVE:To assess the predictive potential of the complete response pattern from the University of Pennsylvania Smell Identification Test for the diagnosis of Parkinson's disease. METHODS:We analyzed a large dataset from the Arizona Study of Aging and Neurodegenerative Disorders, a longitudinal clinicopathological s...

journal_title：Annals of clinical and translational neurology

authors： Gerkin RC,Adler CH,Hentz JG,Shill HA,Driver-Dunckley E,Mehta SH,Sabbagh MN,Caviness JN,Dugger BN,Serrano G,Belden C,Smith BH,Sue L,Davis KJ,Zamrini E,Beach TG

更新日期：2017-09-08 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: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：OBJECTIVE:Cancer patients may experience neurologic adverse effects, such as alterations in neurocognitive function, as a consequence of chemotherapy. The mechanisms underlying such neurotoxic syndromes remain poorly understood. We here describe the temporal and regional effects of systemically administered platinum-ba...

journal_title：Annals of clinical and translational neurology

authors： Horky LL,Gerbaudo VH,Zaitsev A,Plesniak W,Hainer J,Govindarajulu U,Kikinis R,Dietrich J

更新日期：2014-10-01 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:We aimed to investigate mutation-specific white matter (WM) integrity changes in presymptomatic and symptomatic mutation carriers of the C9orf72,MAPT, and GRN mutations by use of diffusion-weighted imaging within the Genetic Frontotemporal dementia Initiative (GENFI) study. Methods:One hundred and forty muta...

journal_title：Annals of clinical and translational neurology

authors： Jiskoot LC,Bocchetta M,Nicholas JM,Cash DM,Thomas D,Modat M,Ourselin S,Rombouts SARB,Dopper EGP,Meeter LH,Panman JL,van Minkelen R,van der Ende EL,Donker Kaat L,Pijnenburg YAL,Borroni B,Galimberti D,Masellis M,Tartagl

更新日期：2018-07-11 00:00:00

abstract：OBJECTIVE:The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions. METHODS:Eleven adult patients with progressive external ophthalmoplegia and a known single mtDNA deletion were investigated. Urinary sediment cells were u...

journal_title：Annals of clinical and translational neurology

authors： Varhaug KN,Nido GS,de Coo I,Isohanni P,Suomalainen A,Tzoulis C,Knappskog P,Bindoff LA

更新日期：2020-08-01 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