title: Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome.
abstract: A Bedouin family is described with an unusual form of spinocerebellar degeneration. Spastic ataxia was found to be associated with congenital cataracts, macular corneal dystrophy and non-axial myopia, in the absence of retardation of somatic or mental maturation. Immunological abnormalities were common. Genetic analysis revealed that the pedigree is expressing the transmission and segregation of a single mutant autosomal recessive gene.
authors.forename: A R
authors.initials: AR
authors.lastname: Mousa
authors.forename: A S
authors.initials: AS
authors.lastname: Al-Din
authors.forename: K E
authors.initials: KE
authors.lastname: Al-Nassar
authors.forename: K M
authors.initials: KM
authors.lastname: Al-Rifai
authors.forename: M
authors.initials: M
authors.lastname: Rudwan
authors.forename: M S
authors.initials: MS
authors.lastname: Sunba
authors.forename: K
authors.initials: K
authors.lastname: Behbehani
mesh_terms: D002386:Cataract / Q000151:congenital / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D009216:Myopia / Q000235:genetics*; D009898:Optic Disk / Q000002:abnormalities*; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed