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An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxia syndrome.

作者信息

Kornberg A J, Shield L K

机构信息

Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

J Child Neurol. 1991 Jan;6(1):20-3. doi: 10.1177/088307389100600104.

DOI:10.1177/088307389100600104
PMID:2002196
Abstract

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.

摘要

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引用本文的文献

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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.由于ITPR1基因突变导致的29型脊髓小脑共济失调:病例系列及对这种新出现的先天性共济失调的综述
Orphanet J Rare Dis. 2017 Jun 28;12(1):121. doi: 10.1186/s13023-017-0672-7.
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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.ITPR1 中的错义突变导致常染色体显性遗传性先天性进行性小脑共济失调。
Orphanet J Rare Dis. 2012 Sep 17;7:67. doi: 10.1186/1750-1172-7-67.