隐性遗传的“单纯型”痉挛性截瘫：病例研究。
Recessively inherited 'pure' spastic paraplegia: case study.
作者信息
de Coo I F, Gabreëls F J, Renier W O, Colon E J, ter Haar B G
出版信息
Clin Neurol Neurosurg. 1982;84(4):247-53. doi: 10.1016/0303-8467(82)90026-9.
PMID:6301736
Abstract
Two brothers with 'pure' spastic paraplegia are presented. Inheritance of their condition probably was autosomal recessive. Clinical onset was in the first decade. Peripheral nerve conduction, visual and brain stem auditory evoked potentials were normal. Somatosensory evoked potentials suggested involvement of the cuneate tract. The relevance of neurophysiological evaluation in familial spastic paraplegia is discussed.
摘要
本文报告了两例患有“单纯”痉挛性截瘫的兄弟。他们的病情可能为常染色体隐性遗传。临床发病于第一个十年。周围神经传导、视觉和脑干听觉诱发电位均正常。体感诱发电位提示楔束受累。本文讨论了神经生理学评估在家族性痉挛性截瘫中的相关性。
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