title: A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.
abstract: We describe 19 cases of a familial syndrome consisting of infantile optic atrophy and an early movement disorder in which chorea predominated. About one-half the patients developed spastic paraparesis during the second decade of life. Ataxia and cognitive deficits were common, usually of mild degree. Seventeen of the patients were females. Sixteen had similarly affected siblings, but none had affected parents. All but one belonged to the Iraqi Jewish community in Israel, giving a minimal prevalence rate in this ethnic group of about 1:10,000.
authors.affiliation: Neuropediatric Unit, Loewenstein Hospital Rehabilitation Center, Ra'anana, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Costeff
authors.forename: N
authors.initials: N
authors.lastname: Gadoth
authors.forename: N
authors.initials: N
authors.lastname: Apter
authors.forename: M
authors.initials: M
authors.lastname: Prialnic
authors.forename: H
authors.initials: H
authors.lastname: Savir
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002648:Child; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D013035:Spasm / Q000235:genetics*; D013577:Syndrome