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[家族性痉挛性脊髓麻痹——临床谱及鉴别诊断要点]

[Familial spastic spinal paralysis--clinical spectrum and differential diagnostic considerations].

作者信息

Klemm E, Tackmann W

机构信息

Neurologische Universitätsklinik Bonn.

出版信息

Fortschr Neurol Psychiatr. 1991 May;59(5):176-82. doi: 10.1055/s-2007-1000692.

Abstract

The familial spastic paraplegia is a rare disorder of the cerebral nervous system characterized by a slowly progressive spasticity of the lower limbs with early or late onset. There are pure and complicated forms. The disease is inherited by an autosomal dominant mode and a recessive one. In this study 6 patients out of 5 families are presented. The clinical variety, genetic aspects, electrophysiological results and differential diagnosis are discussed.

摘要

家族性痉挛性截瘫是一种罕见的中枢神经系统疾病,其特征为下肢进行性痉挛,发病有早有晚。有单纯型和复合型。该病通过常染色体显性和隐性方式遗传。本研究报告了5个家族中的6例患者。讨论了其临床多样性、遗传学特征、电生理结果及鉴别诊断。

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