Familial Behr syndrome-like phenotype with autosomal dominant inheritance.

Journal: Parkinsonism & Related Disorders
Published:
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.

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