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儿童期出现的遗传性痉挛性截瘫的“单纯型”和“复杂型”

'Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood.

作者信息

Appleton R E, Farrell K, Dunn H G

机构信息

Department of Paediatrics, University of British Columbia's Children's Hospital, Vancouver, Canada.

出版信息

Dev Med Child Neurol. 1991 Apr;33(4):304-12. doi: 10.1111/j.1469-8749.1991.tb14881.x.

Abstract

Of 23 children with hereditary spastic paraplegia (HSP), spasticity was the only neurological abnormality in eight patients (pure form). Additional neurological abnormalities in the 15 with complicated HSP included cognitive impairment, pseudo-bulbar palsy, cerebellar dysfunction and polyneuropathy. 19 children presented with abnormal gait, recognised at a mean age of three years in the pure form and five years in the complicated form. These forms were distinguished at a mean age of 11 years. Early non-motor developmental delay or rapidly ascending paraparesis, with spread of spasticity to the arms and with involvement of bulbar structures, predicted development of the complicated form. The pure form was inherited in an autosomal dominant manner in five patients. The autosomal recessive form was commonly associated with additional neurological abnormalities and a more rapid rate of progression.

摘要

在23例遗传性痉挛性截瘫(HSP)患儿中,8例患者(单纯型)的痉挛是唯一的神经学异常。15例复杂型HSP患者的其他神经学异常包括认知障碍、假性球麻痹、小脑功能障碍和多发性神经病。19例患儿出现异常步态,单纯型平均发病年龄为3岁,复杂型为5岁。这两种类型在平均11岁时得以区分。早期非运动发育迟缓或快速进展的双侧轻瘫,伴有痉挛蔓延至手臂和延髓结构受累,提示为复杂型的发展。5例患者的单纯型以常染色体显性方式遗传。常染色体隐性型通常与其他神经学异常及更快的进展速度相关。

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