Familial Behr syndrome-like phenotype with autosomal dominant inheritance

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

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Ataxia / genetics*
  • Ataxia / pathology
  • Brain / pathology
  • Child
  • Family Health*
  • Female
  • Genes, Dominant*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Optic Atrophies, Hereditary / genetics*
  • Optic Atrophies, Hereditary / pathology