具有常染色体显性遗传的家族性类贝赫综合征表型。

Familial Behr syndrome-like phenotype with autosomal dominant inheritance.

作者信息

Felicio Andre C, Godeiro-Junior Clecio, Alberto Lucianna G, Pinto Aline P M, Sallum Juliana M F, Teive Helio G, Barsottini Orlando G P

机构信息

Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil.

出版信息

Parkinsonism Relat Disord. 2008;14(4):370-2. doi: 10.1016/j.parkreldis.2007.08.008. Epub 2007 Oct 30.

DOI:10.1016/j.parkreldis.2007.08.008

PMID:17977780

Abstract

Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome-like phenotype emphasizing their clinical and neuroimaging features.

摘要

贝赫综合征是一种常染色体隐性疾病，其特征为早发性共济失调、视神经萎缩以及其他体征，如锥体束功能障碍。也有常染色体显性遗传的报道。在本病例报告中，我们展示了一个具有遗传性常染色体显性贝赫综合征样表型患者的家系图谱，着重介绍了他们的临床和神经影像学特征。