Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.

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：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：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：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：OBJECTIVE:Electroencephalography (EEG) features in the alpha band have been shown to differ between people with epilepsy and healthy controls. Here, in a group of patients with mesial temporal lobe epilepsy (mTLE), we seek to confirm these EEG features, and using simultaneous functional magnetic resonance imaging, we i...

journal_title：Annals of clinical and translational neurology

authors： Yaakub SN,Tangwiriyasakul C,Abela E,Koutroumanidis M,Elwes RDC,Barker GJ,Richardson MP

更新日期：2020-05-01 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：: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:To study the safety of antiepileptic drug (AED) withdrawal after temporal lobe epilepsy (TLE) surgery. METHODS:We reviewed patients who underwent TLE surgery from 1995 to 2011, collecting data on doses, dates of AED initiation, reduction, and discontinuation. Predictors of seizure outcome were defined using ...

journal_title：Annals of clinical and translational neurology

authors： Yardi R,Irwin A,Kayyali H,Gupta A,Nair D,Gonzalez-Martinez J,Bingaman W,Najm IM,Jehi LE

更新日期：2014-02-01 00:00:00

abstract：:T cells and B cells are crucial in the initiation and maintenance of multiple sclerosis (MS), and the activation of these cells is believed to be mediated through specific recognition of antigens by the T- and B-cell receptors. The antigen receptors are highly polymorphic due to recombination (T- and B-cell receptors)...

journal_title：Annals of clinical and translational neurology

authors： Lossius A,Johansen JN,Vartdal F,Holmøy T

更新日期：2016-02-25 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

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：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: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 objective of this study was to evaluate the thrombus characteristics affecting the extent of recanalization to identify patients with severe cerebral venous sinus thrombus (CVT) more likely to benefit from endovascular therapy. Methods:Severe CVT patients scheduled for endovascular treatment were prospec...

journal_title：Annals of clinical and translational neurology

authors： Yang X,Wu F,Liu Y,Duan J,Meng R,Chen J,Li D,Fan Z,Fisher M,Yang Q,Ji X

更新日期：2019-03-07 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: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：:Plasma neuronal exosomal levels of pathogenic Alzheimer's disease (AD) proteins, cellular survival factors, and lysosomal proteins distinguish AD patients from control subjects, but changes in these exosomal proteins associated with normal aging have not been described for cognitively intact subjects. Plasma neuronal ...

journal_title：Annals of clinical and translational neurology

authors： Abner EL,Jicha GA,Shaw LM,Trojanowski JQ,Goetzl EJ

更新日期：2016-04-13 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: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：OBJECTIVES:To assess the impact of ventriculoperitoneal (VPS) in patients with glioma. METHODS:Retrospective review of patients with grade II-IV glioma who had VPS placement from January 1995 to November 2012. RESULTS:We identified 62 patients. At time of VPS, 41 had gait disturbance, 40 cognitive impairment and 16 u...

journal_title：Annals of clinical and translational neurology

authors： de la Fuente MI,DeAngelis LM

更新日期：2014-01-01 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：:N-ethylmaleimide-sensitive factor (NSF) plays a critical role in intracellular vesicle transport, which is essential for neurotransmitter release. Herein, we, for the first time, document human monogenic disease phenotype of de novo pathogenic variants in NSF, that is, epileptic encephalopathy of early infantile onset...

journal_title：Annals of clinical and translational neurology

authors： Suzuki H,Yoshida T,Morisada N,Uehara T,Kosaki K,Sato K,Matsubara K,Takano-Shimizu T,Takenouchi T

更新日期：2019-11-01 00:00:00

abstract：OBJECTIVE:Trinucleotide GGC repeat expansion in the 5'UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID). Previous studies have described that some NIID patients showed clinical and pathological similarities with multiple system atrophy (MSA). This study ...

journal_title：Annals of clinical and translational neurology

authors： Fang P,Yu Y,Yao S,Chen S,Zhu M,Chen Y,Zou K,Wang L,Wang H,Xin L,Hong T,Hong D

更新日期：2020-04-01 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: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：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：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: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 compare the values of arterial spin-labeled (ASL) MRI and fluorodeoxyglucose (FDG) PET in the diagnosis of behavioral variant of frontotemporal dementia (bvFTD) and Alzheimer's disease (AD). METHODS:Partial least squares logistic regression was used to identify voxels with diagnostic value in cerebral blo...

journal_title：Annals of clinical and translational neurology

authors： Tosun D,Schuff N,Rabinovici GD,Ayakta N,Miller BL,Jagust W,Kramer J,Weiner MM,Rosen HJ

更新日期：2016-08-30 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