Familial Behr syndrome-like phenotype with autosomal dominant inheritance
- PMID: 17977780
- DOI: 10.1016/j.parkreldis.2007.08.008
Familial Behr syndrome-like phenotype with autosomal dominant inheritance
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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