Intergenerational instability and marked anticipation in SCA-17.
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.
Maltecca
F
F
San Raffaele Scientific Institute (DIBIT), Milan, Italy.
Filla
A
A
Castaldo
I
I
Coppola
G
G
Fragassi
N A
NA
Carella
M
M
Bruni
A
A
Cocozza
S
S
Casari
G
G
Servadio
A
A
De Michele
G
G
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
D035181:TATA-Box Binding Protein