A new counterintuitive training for adult amblyopia.

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：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：:Rho-associated kinase (ROCK) is an emerging target in acute ischemic stroke. Early pre-hospital treatment with ROCK inhibitors may improve their efficacy, but their antithrombotic effects raise safety concerns in hemorrhagic stroke, precluding use prior to neuroimaging. Therefore, we tested whether ROCK inhibition aff...

journal_title：Annals of clinical and translational neurology

authors： Akhter M,Qin T,Fischer P,Sadeghian H,Kim HH,Whalen MJ,Goldstein JN,Ayata C

更新日期：2018-05-01 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：:The maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi-catalytic protein involved in the removal of single strand DNA during mtDNA replic...

journal_title：Annals of clinical and translational neurology

authors： Ronchi D,Liu C,Caporali L,Piga D,Li H,Tagliavini F,Valentino ML,Ferrò MT,Bini P,Zheng L,Carelli V,Shen B,Comi GP

更新日期：2019-09-01 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：: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: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: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:Friedreich ataxia (FRDA) is the commonest hereditary ataxia in Caucasians. Most patients are homozygous for expanded GAA triplet repeats in the first intron of the frataxin (FXN) gene, involved in mitochondrial iron metabolism. Here, we used magnetoencephalography (MEG) to characterize the main determinants o...

journal_title：Annals of clinical and translational neurology

authors： Naeije G,Wens V,Coquelet N,Sjøgård M,Goldman S,Pandolfo M,De Tiège XP

更新日期：2020-01-01 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：:The increasing number of potent treatments for multiple sclerosis warrants screening for infections. To investigate the prevalence of infections in two independent German patient cohorts with multiple sclerosis/neuromyelitis optica spectrum disorders (NMOSD), we performed a retrospective chart review study of multiple...

journal_title：Annals of clinical and translational neurology

authors： Graf J,Leussink VI,Dehmel T,Ringelstein M,Goebels N,Adams O,MacKenzie CR,Warnke C,Feldt T,Lammerskitten A,Klotz L,Meuth S,Wiendl H,Hartung HP,Aktas O,Albrecht P

更新日期：2017-11-24 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：: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：:Biallelic mutations in the sorbitol dehydrogenase (SORD) encoding gene were recently identified as a common genetic cause in autosomal-recessive CMT patients. Here, we investigated the clinical, genetic, and electrophysiological characteristics of three CMT patients with biallelic SORD mutations from a Chinese cohort....

journal_title：Annals of clinical and translational neurology

authors： Yuan RY,Ye ZL,Zhang XR,Xu LQ,He J

更新日期：2021-01-01 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：:Three relatives carrying a t(4;8)(p15.2;p23.2) translocation had juvenile myoclonic epilepsy, self-limited photosensitive occipital epilepsy and migraine with aura. The t(4;8) translocation interrupted the coding sequence of CSMD1 gene and occurred immediately to the 3'UTR of STIM2 gene. STIM2 was overexpressed in the...

journal_title：Annals of clinical and translational neurology

authors： Crippa M,Malatesta P,Bonati MT,Trapasso F,Fortunato F,Annesi G,Larizza L,Labate A,Finelli P,Perrotti N,Gambardella A

更新日期：2020-05-01 00:00:00

abstract：OBJECTIVE:Increased translocator protein (TSPO), previously known as the peripheral benzodiazepine receptor (PBR), in glial cells of the brain has been used as a neuroinflammation marker in the early and middle stages of neurodegenerative diseases, such as Alzheimer's disease (AD) and Dementia with Lewy Bodies (DLB). I...

journal_title：Annals of clinical and translational neurology

authors： Xu J,Sun J,Perrin RJ,Mach RH,Bales KR,Morris JC,Benzinger TLS,Holtzman DM

更新日期：2019-08-01 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

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：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:Previous studies have demonstrated that suppression of Nrf2 in Friedreich ataxia tissues contributes to excess oxidative stress, mitochondrial dysfunction, and reduced ATP production. Omaveloxolone, an Nrf2 activator and NF-kB suppressor, targets dysfunctional inflammatory, metabolic, and bioenergetic pathway...

journal_title：Annals of clinical and translational neurology

authors： Lynch DR,Farmer J,Hauser L,Blair IA,Wang QQ,Mesaros C,Snyder N,Boesch S,Chin M,Delatycki MB,Giunti P,Goldsberry A,Hoyle C,McBride MG,Nachbauer W,O'Grady M,Perlman S,Subramony SH,Wilmot GR,Zesiewicz T,Meyer C

更新日期：2018-11-10 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：: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: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 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：:The causal role of midline thalamus in the initiation and early organization of mesial temporal lobe seizures is studied. Three patients undergoing stereoelectroencephalography were enrolled for the placement of an additional depth electrode targeting the midline thalamus. The midline thalamus was recruited in all thr...

journal_title：Annals of clinical and translational neurology

authors： Romeo A,Issa Roach AT,Toth E,Chaitanya G,Ilyas A,Riley KO,Pati S

更新日期：2019-08-01 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: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：Introduction:It is unknown if treatment with rt-PA in mild acute ischemic stroke (MIS) is associated with improvement in long term cognition. Methods:Forty-five patients with suspected acute mild stroke or transient ischemic attacks with NIHSS ≤6 were enrolled in a prospective cohort. Cognitive testing was performed w...

journal_title：Annals of clinical and translational neurology

authors： Rosenbaum Halevi D,Bursaw AW,Karamchandani RR,Alderman SE,Breier JI,Vahidy FS,Aden JK,Cai C,Zhang X,Savitz SI

更新日期：2019-01-22 00:00:00