title: 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.affiliation: Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil. cf.andre@gmail.com
authors.forename: Andre C
authors.initials: AC
authors.lastname: Felicio
authors.forename: Clecio
authors.initials: C
authors.lastname: Godeiro-Junior
authors.forename: Lucianna G
authors.initials: LG
authors.lastname: Alberto
authors.forename: Aline P M
authors.initials: AP
authors.lastname: Pinto
authors.forename: Juliana M F
authors.initials: JM
authors.lastname: Sallum
authors.forename: Helio G
authors.initials: HG
authors.lastname: Teive
authors.forename: Orlando G P
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002648:Child; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000235:genetics* / Q000473:pathology