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

Familial Behr syndrome-like phenotype with autosomal dominant inheritance

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Case Reports

Familial Behr syndrome-like phenotype with autosomal dominant inheritance

Andre C Felicio et al. Parkinsonism Relat Disord. 2008.

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.

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