Familial Behr syndrome-like phenotype with autosomal dominant inheritance.
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.
Felicio
Andre C
AC
Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil. cf.andre@gmail.com
Godeiro-Junior
Clecio
C
Alberto
Lucianna G
LG
Pinto
Aline P M
AP
Sallum
Juliana M F
JM
Teive
Helio G
HG
Barsottini
Orlando G P
OG
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