title: [Clinical study of two families with late-onset autosomal dominant spinal-cerebellar ataxia linked with HLA. Preliminary results].
abstract: Two families with autosomal dominant spinocerebellar ataxia (SCA) of late onset were studied. These families originate in the same small rural area in a Southern Italian region (Calabria). We report the clinical study of 23 patients in different stages of the disease and neuropathological study in one patient. Linkage studies provided strong evidence for linkage of the SCA locus to the HLA loci (SCA1) in the subjects of these families. Our study allows to outline the clinical features of HLA linked SCA in order to trace a pattern of SCA1 phenotype thus making easier the identification of SCA1 heterozygotes in an early clinical stage.
authors.affiliation: Istituto di Clinica delle Malattie Nervose e Mentali, Università di Roma.
authors.forename: P
authors.initials: P
authors.lastname: Giunti
authors.forename: M
authors.initials: M
authors.lastname: Spadaro
authors.forename: M
authors.initials: M
authors.lastname: Frontali
authors.forename: F
authors.initials: F
authors.lastname: Bianco
authors.forename: C
authors.initials: C
authors.lastname: Morocutti
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005799:Genes, Dominant; D005805:Genes, MHC Class I; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D013997:Time Factors
vernacular_title: Studio clinico di due famiglie con atassia spinocerebellare autosomica dominante ad esordio tardivo in linkage con HLA. Risultati preliminari.