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Spinocerebellar Ataxia Type 36 (Nicknamed Asidan) Koji Abe 1 , Yoshio Ikeda 1 1Department of Neurology, Okayama University Graduate School of Medicine Keyword: SCA36 , Asidan , NOP56 , GGCCTG hexanucleotide expansion , dementia pp.937-941
Published Date 2012/8/1
DOI https://doi.org/10.11477/mf.1416101271
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Abstract

 We report the phenotype of spinocerebellar ataxia type 36 (SCA36), which is a novel type of dominant cerebellar ataxia nicknamed as "Asidan," caused by the expansion of a hexanucleotide GGCCTG repeat in intron 1 of the nucleolar protein 56 (NOP56) gene. Age at the onset of ataxia was 53.1 (3.4) years (mean[SD]). Truncal ataxia was the most frequent initial symptom (100%), followed by ataxic dysarthria (100%), limb ataxia (93%), and general hyperreflexia (79%). Tongue fasciculation and subsequent atrophy were observed in 71% of the cases, especially in those of a longer duration. Skeletal muscle fasciculation and atrophy in the limbs and trunk were also observed in 57% of the cases. To our knowledge, we describe for the first time a unique clinical feature of Asidan (SCA36)――relatively pure cerebellar ataxia with progressive motor neuron involvement during the course of disease-that puts SCA36 at the crossroad of SCA and amyotrophic lateral sclerosis.


Copyright © 2012, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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