title: Intergenerational instability and marked anticipation in SCA-17.
abstract: The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, and MRI findings of cerebral and cerebellar atrophy. A child had a distinctive presentation with onset at 3 years, growth retardation, fast progression, and early death. Molecular analysis demonstrated an expanded CAG/CAA repeat in the TBP gene (SCA-17). The repeat size was 66 triplets in the child and 53 in all the other patients.
authors.affiliation: San Raffaele Scientific Institute (DIBIT), Milan, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Maltecca
authors.forename: A
authors.initials: A
authors.lastname: Filla
authors.forename: I
authors.initials: I
authors.lastname: Castaldo
authors.forename: G
authors.initials: G
authors.lastname: Coppola
authors.forename: N A
authors.initials: NA
authors.lastname: Fragassi
authors.forename: M
authors.initials: M
authors.lastname: Carella
authors.forename: A
authors.initials: A
authors.lastname: Bruni
authors.forename: S
authors.initials: S
authors.lastname: Cocozza
authors.forename: G
authors.initials: G
authors.lastname: Casari
authors.forename: A
authors.initials: A
authors.lastname: Servadio
authors.forename: G
authors.initials: G
authors.lastname: De Michele
mesh_terms: D000293:Adolescent; D000328:Adult; D020132:Anticipation, Genetic; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D035181:TATA-Box Binding Protein / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D035181:TATA-Box Binding Protein