伴有蚓部萎缩的显性遗传性先天性小脑共济失调。

Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis.

作者信息

Tomiwa K, Baraitser M, Wilson J

机构信息

Department of Clinical Genetics, Hospital for Sick Children, London, United Kingdom.

出版信息

Pediatr Neurol. 1987 Nov-Dec;3(6):360-2. doi: 10.1016/0887-8994(87)90008-7.

DOI:10.1016/0887-8994(87)90008-7

PMID:3334022

Abstract

We report a mother and daughter with congenital cerebellar ataxia and normal intelligence. Computed tomography revealed localized atrophy of the cerebellar vermis. This is the second case report of dominantly inherited, nonprogressive, congenital cerebellar ataxia.

摘要

我们报告了一对患有先天性小脑共济失调且智力正常的母女。计算机断层扫描显示小脑蚓部局限性萎缩。这是第二例关于显性遗传、非进行性先天性小脑共济失调的病例报告。