Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients

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Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients

Cortical cerebellar atrophy (CCA) and multiple system atrophy with predominant cerebellar ataxia (MSA-C) are the two major forms of adult-onset sporadic ataxia. Contrary to MSA-C, there are neither diagnostic criteria nor neuroimaging features pathognomonic for CCA. Therefore, it is assumed that the category of CCA in the Japanese national registry include heterogeneous cerebellar ataxic disord...

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Molecular and Clinical Investigation of Iranian Patients with Friedreich Ataxia

Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable ...

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Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families.

We carried out linkage analysis and clinical assessment on 41 patients with autosomal dominant pure cerebellar ataxia (ADCA) type III from eight Japanese families. The presenting symptom was gait ataxia in all patients, with the average age of onset at 46.0 +/- 9.0 (SD) years. The mean age of onset was 3.2 +/- 7.7 years earlier in offsprings than in their parents, suggesting mild, but not drama...

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Idiopathic very late-onset cerebellar ataxia: a Brazilian case series.

UNLABELLED The authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy. METHOD 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years....

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Clinical and magnetic resonance imaging characteristics of sporadic cerebellar ataxia.

BACKGROUND It is unknown whether multiple system atrophy of the cerebellar type (MSA-C) and idiopathic cerebellar ataxia with extracerebellar presentation (IDCA-P) represent distinct entities. OBJECTIVE To investigate the discriminative validity of magnetic resonance imaging in sporadic cerebellar ataxia. DESIGN Basal ganglia and infratentorial structures were screened for signal abnormalit...

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ژورنال

عنوان ژورنال: Journal of the Neurological Sciences

سال: 2018

ISSN: 0022-510X

DOI: 10.1016/j.jns.2017.11.008