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188例脊髓小脑变性、弗里德赖希共济失调及玛丽遗传性共济失调家系的临床与遗传学分析

[Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias].

作者信息

Ben Hamida M, Attia-Romdhane N, Triki C H, Oueslati S, Hentati F

机构信息

Institut National de Neurologie, La Rabta, Tunis.

出版信息

Rev Neurol (Paris). 1991;147(12):798-808.

PMID:1780608
Abstract

Based on the hereditary ataxias concepts and a large field survey, the authors analyzed 392 cases of spino-cerebellar degeneration belonging to 188 families. Two main clinical groups were identified: 227 cases of Friedreich ataxia and 74 cases of cerebellar hereditary ataxia of P. Marie type. The association in the same patient of peroneal atrophy of Charcot Marie type with Friedreich ataxia (17 cases) or P. Marie cerebellar hereditary ataxia (13 definite cases and 13 probable) was the most striking finding. "Forme fruste", incomplete form or complex form of Friedreich ataxia were present in some families while in some others there was spastic paraplegia or pure Charcot Marie Tooth disease. This clinical heterogeneity in families of spino-cerebellar degeneration is discussed.

摘要

基于遗传性共济失调的概念和大规模的实地调查,作者分析了来自188个家庭的392例脊髓小脑变性病例。确定了两个主要临床组:227例弗里德赖希共济失调和74例玛丽型小脑遗传性共济失调。夏科-马里型腓骨肌萎缩与弗里德赖希共济失调(17例)或玛丽型小脑遗传性共济失调(13例确诊和13例可能)在同一患者中的关联是最显著的发现。在一些家庭中存在弗里德赖希共济失调的“顿挫型”、不完全型或复杂型,而在另一些家庭中则存在痉挛性截瘫或单纯的夏科-马里-图思病。本文讨论了脊髓小脑变性家庭中的这种临床异质性。

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