1. Intergenerational instability and marked anticipation in SCA-17
- Author
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A. Filla, Massimo Carella, Giovanni Coppola, Antonio Servadio, Giorgio Casari, N.A. Fragassi, Sergio Cocozza, Imma Castaldo, G. De Michele, Francesca Maltecca, Amalia C. Bruni, Maltecca, Francesca, Filla, A, Castaldo, I, Coppola, G, Fragassi, Na, Carella, M, Bruni, A, Cocozza, S, Casari, GIORGIO NEVIO, Servadio, A, De Michele, G., Maltecca, F, Filla, Alessandro, Cocozza, Sergio, Casari, G, and DE MICHELE, Giuseppe
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Ataxia ,Adolescent ,Epilepsy ,Degenerative disease ,medicine ,Humans ,Spinocerebellar Ataxias ,Dementia ,Anticipation, Genetic ,TATA-Box Binding Protein ,medicine.disease ,Pedigree ,Mutation ,Anticipation (genetics) ,Spinocerebellar ataxia ,Female ,Cerebellar atrophy ,Neurology (clinical) ,medicine.symptom ,Trinucleotide Repeat Expansion ,Trinucleotide repeat expansion ,Psychology ,Neuroscience - 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.
- Published
- 2003
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