A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.

abstract：OBJECTIVE:Given their diverse phenotypes, mitochondrial diseases (MDs) are often difficult to diagnose. Fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) represent promising biomarkers for MD diagnosis. Herein we conducted a meta-analysis to compare their diagnostic accuracy for MDs. M...

journal_title：Annals of clinical and translational neurology

authors： Lin Y,Ji K,Ma X,Liu S,Li W,Zhao Y,Yan C

更新日期：2020-07-01 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: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: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: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: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：:Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8-year-old girl with history of developmental delay, autism and intractable epilepsy that was found to have a pathogenic variant in CAD. We briefly review the biochemical pathway of CA...

journal_title：Annals of clinical and translational neurology

authors： Frederick A,Sherer K,Nguyen L,Ali S,Garg A,Haas R,Sahagian M,Bui J

更新日期：2021-01-01 00:00:00

abstract：OBJECT:Ischemic brain injury is the leading cause for death and long-term disability in patients who suffer cardiac arrest and embolic stroke. Excitotoxicity and subsequent Ca(2+)-overload lead to ischemic neuron death. We explore a novel mechanism concerning the role of the excitatory extracellular calcium-sensing rec...

journal_title：Annals of clinical and translational neurology

authors： Kim JY,Ho H,Kim N,Liu J,Tu CL,Yenari MA,Chang W

更新日期：2014-11-01 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:Human T-cell leukemia virus-1 (HTLV-1) associated myelopathy/tropic spastic paraparesis (HAM/TSP) is induced by chronic inflammation in spinal cord due to HTLV-1 infection. Cerebrospinal fluid (CSF) neopterin or proviral load are clinically measured as disease grading biomarkers, however, they are not exactly...

journal_title：Annals of clinical and translational neurology

authors： Ishihara M,Araya N,Sato T,Saichi N,Fujii R,Yamano Y,Ueda K

更新日期：2015-03-01 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：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：OBJECTIVE:Brain connectivity at rest is altered in temporal lobe epilepsy (TLE), particularly in "hub" areas such as the posterior default mode network (DMN). Although both functional and anatomical connectivity are disturbed in TLE, the relationships between measures as well as to seizure frequency remain unclear. We ...

journal_title：Annals of clinical and translational neurology

authors： Douw L,DeSalvo MN,Tanaka N,Cole AJ,Liu H,Reinsberger C,Stufflebeam SM

更新日期：2015-04-01 00:00:00

abstract：OBJECTIVE:The neuropathogenesis of postoperative delirium remains unknown. Low cerebrospinal fluid (CSF) βamyloid protein (Aβ) and high CSF Tau levels are associated with Alzheimer's disease. We therefore assessed whether lower preoperative CSF Aβ/Tau ratio was associated with higher incidence and greater severity of p...

journal_title：Annals of clinical and translational neurology

authors： Xie Z,Swain CA,Ward SA,Zheng H,Dong Y,Sunder N,Burke DW,Escobar D,Zhang Y,Marcantonio ER

更新日期：2014-05-01 00:00:00

abstract：:Inclusion Body Myositis (IBM) is a relatively common acquired inflammatory myopathy in patients above 50 years of age. Pathological hallmarks of IBM are intramyofiber protein inclusions and endomysial inflammation, indicating that both myodegenerative and inflammatory mechanisms contribute to its pathogenesis. Impaire...

journal_title：Annals of clinical and translational neurology

authors： Keller CW,Schmidt J,Lünemann JD

更新日期：2017-05-16 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：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: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: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: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：: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 prognostic value of cerebrospinal fluid neurofilament light chain, total tau, phosphorylated tau181, and amyloid beta1-42 was examined in frontotemporal dementia subtypes. Methods:We compared baseline biomarkers between 49 controls, 40 patients with behavioral variant frontotemporal dementia, 24 with sem...

journal_title：Annals of clinical and translational neurology

authors： Ljubenkov PA,Staffaroni AM,Rojas JC,Allen IE,Wang P,Heuer H,Karydas A,Kornak J,Cobigo Y,Seeley WW,Grinberg LT,Spina S,Fagan AM,Jerome G,Knopman D,Boeve BF,Dickerson BC,Kramer J,Miller B,Boxer AL,Rosen HJ

更新日期：2018-09-20 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：: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：:We demonstrate the first use of Optically Pumped Magnetoencephalography (OP-MEG) in an epilepsy patient with unrestricted head movement. Current clinical MEG uses a traditional SQUID system, where sensors are cryogenically cooled and housed in a helmet in which the patient's head is fixed. Here, we use a different typ...

journal_title：Annals of clinical and translational neurology

authors： Vivekananda U,Mellor S,Tierney TM,Holmes N,Boto E,Leggett J,Roberts G,Hill RM,Litvak V,Brookes MJ,Bowtell R,Barnes GR,Walker MC

更新日期：2020-03-01 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：: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：: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：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：BACKGROUND:Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis. This indicates that their genetic background is heterogeneous. PATIENT AND METHODS:In this w...

journal_title：Annals of clinical and translational neurology

authors： Marcos AT,Martín-Doncel E,Morejón-García P,Marcos-Alcalde I,Gómez-Puertas P,Segura-Puimedon M,Armengol L,Navarro-Pando JM,Lazo PA

更新日期：2020-05-01 00:00:00