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[先天性常染色体隐性家族性痉挛性截瘫]

[Congenital autosomal-recessive familial spastic paraplegia].

作者信息

Badalian L O, Umakhanov R U, Temin P A, Arhipov B A, Bulaeva N V, Sakidebirov G M

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1991;91(8):97-9.

PMID:1661531
Abstract

The authors describe a family living in the Dagestan where three relative sibs, girls, suffered from familial spastic paraplegia. The variety described is marked by early debut, pronounced intrafamilial polymorphism of the disease course, autosomal recessive type of inheritance which, according to the reported data, is marked by frequently occurring combination with damage to other organs and systems (the familial spastic paraplegia "plus"). The "pure" disease variety seen in autosomal recessive type of inheritance, detection of the disease symptoms since the birth indicate that the case in question is a rare clinical variety of familial spastic paraplegia.

摘要

作者描述了一个居住在达吉斯坦的家庭,家中有三个姐妹均患有家族性痉挛性截瘫。所描述的这种类型的特点是发病早、疾病进程在家族内部有明显的多态性、常染色体隐性遗传类型,根据报告数据,其特点还包括常与其他器官和系统的损害同时出现(即家族性痉挛性截瘫“加”型)。常染色体隐性遗传类型中出现的“纯”疾病类型,自出生起就出现疾病症状,表明该病例是家族性痉挛性截瘫中一种罕见的临床类型。

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