Familial Behr syndrome-like phenotype with autosomal dominant inheritance

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• 作者：Andre C. Felicio ; Clecio Godeiro-Junior ; Lucianna G. Alberto ; Aline P.M. Pinto ; Juliana M.F. Sallum ; Helio G. Teive ; Orl ; o G.P. Barsottini
• 关键词：Behr syndrome ; Cerebellar ataxia ; Optic atrophy ; Autosomal dominant
• 刊名：Parkinsonism and Related Disorders
• 出版年：2008
• 期刊代码：215_13538020
• 类别：med
• 出版时间：May 2008
• 卷：14
• 期：4
• 页码：370-372
• 文件大小：225 K

摘要

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.