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.

• Authors: Andre C Felicio, Clecio Godeiro-Junior, Lucianna G Alberto, Aline P M Pinto, Juliana M F Sallum, Helio G Teive, Orlando G P Barsottini
• Journal: Parkinsonism & related disorders (Parkinsonism Relat Disord) Vol. 14 Issue 4 Pg. 370-2 ( 2008) ISSN: 1353-8020 [Print] England
• PMID: 17977780 (Publication Type: Case Reports, Journal Article)

Topics

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