title: Autosomal recessive ataxia, slow eye movements, dementia and extrapyramidal disturbances.
abstract: An Arab family with an autosomal recessive form of spinocerebellar degeneration with slow eye movements is reported. Hitherto all the reported cases were either sporadic or of autosomal dominant inheritance. Associated are progressive intellectual impairment and extrapyramidal dysfunction as well as peripheral neuropathy and skeletal abnormalities. Muscle biopsy revealed non-specific mitochondrial abnormalities. The spectrum of eye movement abnormalities is discussed and the literature is reviewed. It is concluded that the hallmark of this syndrome (slow or even absent saccades) is one of a group of oculomotor abnormalities, all being characterized by delayed initiation and slow velocity. The syndrome seems to be related to the olivopontocerebellar degenerations, but differs in that there is in addition selective degeneration of certain tracts and nuclei in the mesencephalon and probably more rostral structures.
authors.affiliation: Faculty of Medicine, Kuwait University.
authors.forename: A S
authors.initials: AS
authors.lastname: al-Din
authors.forename: A
authors.initials: A
authors.lastname: al-Kurdi
authors.forename: M K
authors.initials: MK
authors.lastname: al-Salem
authors.forename: K E
authors.initials: KE
authors.lastname: al-Nassar
authors.forename: A
authors.initials: A
authors.lastname: al-Zuhair
authors.forename: M A
authors.initials: MA
authors.lastname: Rudwan
authors.forename: I
authors.initials: I
authors.lastname: Ayish
authors.forename: J A
authors.initials: JA
authors.lastname: Barghouti
authors.forename: S
authors.initials: S
authors.lastname: Khaffaji
authors.forename: T
authors.initials: T
authors.lastname: Hamawi
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000150:complications / Q000235:genetics*; D003704:Dementia / Q000150:complications / Q000235:genetics*; D005133:Eye Movements; D005260:Female; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000235:genetics*; D013577:Syndrome