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常染色体显性遗传性家族性痉挛性截瘫:一个新英格兰大家族的报告。

Autosomal dominant familial spastic paraplegia: report of a large New England family.

作者信息

Cooley W C, Rawnsley E, Melkonian G, Moses C, McCann D, Virgin B, Coughlan J, Moeschler J B

机构信息

Clinical Genetics and Child Development Center, Dartmouth Medical School, Hanover, NH.

出版信息

Clin Genet. 1990 Jul;38(1):57-68. doi: 10.1111/j.1399-0004.1990.tb03548.x.

Abstract

A large New England family with autosomal dominant familial spastic paraplegia is described. In a pedigree of 173 individuals, 71 affected individuals are identified. Seventeen cases examined by the authors are described with regard to the natural history of FSP in this family. A staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, FSP is found to have a homogeneous clinical course with nearly complete penetrance. Onset occurs at or before 3 years of age with involvement limited to the lower extremities. After the initial onset, no significant progression was noted. Early aggressive habilitative care may result in more functional ambulation.

摘要

描述了一个患有常染色体显性遗传性家族性痉挛性截瘫的大型新英格兰家族。在一个173人的家系中,确定了71名受影响个体。作者描述了对该家族中17例家族性痉挛性截瘫(FSP)自然病史的研究情况。提出了一个用于跟踪病情进展和规划干预措施的分期系统。给出了三个说明性病例。在这个家族中,发现FSP具有几乎完全外显率的均匀临床病程。发病于3岁及3岁之前,且仅累及下肢。初次发病后,未观察到明显进展。早期积极的康复护理可能会使行走功能更好。

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