Behr syndrome (BEHRS) is an autosomal recessive syndrome characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. It has been reported that mutations in OPA1 cause this syndrome. OPA1 encodes a dynamin-related GTPase involved in mitochondrial dynamics and mtDNA maintenance.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B70 Inherited retinal dystrophies
H02898 Behr syndrome
Bonneau D, Colin E, Oca F, Ferre M, Chevrollier A, Gueguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P
Title
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
