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库克群岛米蒂亚罗岛的家族性痉挛性截瘫。

Familial spastic paraplegia on Mitiaro, Cook Islands.

作者信息

Kuberski T, Tetava P, Koteka G

出版信息

N Z Med J. 1981 Mar 25;93(680):187-8.

PMID:6941104
Abstract

Familial spastic paraplegia is described in four Cook Island children. Prior to the onset of the disease at age six or seven years, the children were apparently normal. Disease was characterised principally by progressive spastic paraplegia of the lower extremities, in addition to tremor and slow articulation. The disease in these children was probably due to the expression of an autosomal recessive gene. The disorder is of interest because the findings in these children appear to overlap the pure spastic and ataxic heredofamilial syndromes.

摘要

在四名库克群岛儿童中发现了家族性痉挛性截瘫。在六、七岁发病之前,这些儿童看起来一切正常。该病主要特征为下肢进行性痉挛性截瘫,伴有震颤和言语迟缓。这些儿童所患疾病可能是由于常染色体隐性基因的表达所致。这种病症很有意思,因为这些儿童的症状似乎与单纯性痉挛性和共济失调性遗传家族综合征有重叠。

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