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A CLINICAL STUDY OF A FAMILY AFFECTED WITH HLA-LINKED HEREDITARY SPINOCEREBELLAR ATAXIA Hidenao Sasaki 1 , Takeshi Hamada 2 , Akemi Wakisaka 3 , Kunio Tashiro 1 1Department of Neurology School of Medicine, Hokkaido University 2Hokuyukai Neurological Hospital 3Department of Pathology, School of Medicine, Hokkaido University Keyword: spinocerebellar degeneration , ataxia , olivo-ponto-cerebellar atrophy , HLA , SCA1 pp.1103-1111
Published Date 1990/11/1
DOI https://doi.org/10.11477/mf.1406900130
  • Abstract
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The gene locus of hereditary olivopontocerebel-lar atrophy (OPCA) has been mapped to the short arm of chromosome 6. This locus has been termed as SCA 1 and it is linked to HLA locus. Linkagefor OPCA locus to HLA was first been reported by Yakura et al [38].

We had a chance to re-investigate the original family reported by them. Among the members af-fected, 6 cases were autopsied and their clinical and pathological features were reported by Fuji-moto et al [3]. Kudoh et al [15], and Ikeda [6]. We clinically studied 2 additional patients in this pedigree. The clinical features of these patients, including 6 previously reported cases, were charac-terized by 1) cerebellar ataxia predominating throughout clinical course ; 2) pyramidal tract invol-vement, chatacterized by pathological reflexes, with hyper-reflexia or terminal hyporeflexia ; 3) generalized muscle atrophy ; 4) slow eye move-ment ; 5) facial and tongue atrophy ; 6) optic disc pallor ; 7) terminal external ophthalmoparesis ; 8) mydriasis and sluggish light reflex ; 9) mild peri-pheral neuropathy ; 10) mild reduction of deep sense ; 11) bulbar symptom ; 12) emotional lability, irritation, or euphoria dominating terminally.

Clinically, there are certain similarities between this pedigree and other reported pedigrees of which linkage for OPCA locus to HLA have been proved. Furthermore, clinico-pathological reports of hereditary OPCA showing slow eye movement share numbers of clinical characteristics observed in the patients of this pedigree. Accumulating link-age data suggest that hereditary OPCA might be heterogenous disorder genetically. Whether there are any correlation between linkage data and cli-nico-pathological findings is essential to establish disease entities, and to re-classify hereditary OPCA and its related disorders.


Copyright © 1990, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 2185-405X 印刷版ISSN 0006-8969 医学書院

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