AN EXTENDED PHENOTYPE OF AN EARLY-ONSET INHERITED NONPROGRESSIVE CEREBELLAR-ATAXIA SYNDROME

被引：19

作者：

KORNBERG, AJ ^{[1
]}

SHIELD, LK ^{[1
]}

机构：

[1] ROYAL CHILDRENS HOSP,DEPT NEUROL,PARKVILLE,VIC 3052,AUSTRALIA

来源：

JOURNAL OF CHILD NEUROLOGY | 1991年 / 6卷 / 01期

关键词：

D O I：

10.1177/088307389100600104

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A father and son with presumed dominantly inherited, nonprogressive, early-onset cerebellar ataxia are reported. The clinical features are similar to those in other reports of this rare disorder, but magnetic resonance imaging revealed generalized atrophy of the cerebellum and not localized vermal atrophy as previously noted. This family illustrates either an extended phenotype of the previously reported disorder or possibly an unique type of autosomal dominant cerebellar ataxia.

引用

页码：20 / 23

页数：4