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家族性痉挛性共济失调:在儿童期的发生情况。

Familial spastic ataxia: occurrence in childhood.

作者信息

Hogan G W, Bauman M L

出版信息

Neurology. 1977 Jun;27(6):520-6. doi: 10.1212/wnl.27.6.520.

Abstract

The childhood form of familial spastic ataxia differs in many aspects from the disease of adult onset but as yet has received little attention in the literature. Five children with familial spastic ataxia are presented. A general review of the pertinent literature on familial spastic ataxia is included. The clinical and pathologic features of the childhood form of this disease are variable. Because this recessive disease has no known metabolic marker, differential diagnosis is difficult, requiring detailed history and careful observation.

摘要

家族性痉挛性共济失调的儿童型在许多方面与成人发病的疾病不同,但在文献中尚未受到太多关注。本文介绍了5例家族性痉挛性共济失调患儿。文中还包括了对家族性痉挛性共济失调相关文献的综述。这种疾病儿童型的临床和病理特征各不相同。由于这种隐性疾病没有已知的代谢标志物,鉴别诊断很困难,需要详细的病史和仔细的观察。

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