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伴有神经源性膀胱功能障碍和并指(趾)畸形的遗传性痉挛性截瘫

Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia.

作者信息

Opjordsmoen S, Nyberg-Hansen R

出版信息

Acta Neurol Scand. 1980 Jan;61(1):35-41. doi: 10.1111/j.1600-0404.1980.tb02993.x.

DOI:10.1111/j.1600-0404.1980.tb02993.x
PMID:6249060
Abstract

The present paper reports a family settled in the northern part of Norway, with a hereditary neurological disorder consisting clinically of spastic paraplegia associated with neurogenic bladder disturbances and syndactylia. Nine out of 22 members in three generations exhibit these clinical features. The bladder disturbances, being incomplete supranuclear bladder paresis (uninhibited neurogenic bladder), were the main complaint and occurred at an early stage of the disease. The family probably represents an unusual form of hereditary spastic paraplegia (HSP). The mode of inheritance is considered to be autosomal dominant.

摘要

本文报道了一个定居在挪威北部的家族,该家族患有遗传性神经系统疾病,临床症状包括伴有神经源性膀胱功能障碍和并指畸形的痉挛性截瘫。三代人中的22名成员中有9人表现出这些临床特征。膀胱功能障碍为不完全性核上性膀胱麻痹(无抑制性神经源性膀胱),是主要症状,且在疾病早期出现。该家族可能代表了遗传性痉挛性截瘫(HSP)的一种不寻常形式。遗传方式被认为是常染色体显性遗传。

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Acta Neurol Scand. 1980 Jan;61(1):35-41. doi: 10.1111/j.1600-0404.1980.tb02993.x.
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