Neurology · 2003 · 111 citations · 9 references
MedicineGeneticsNeurologyMedical GeneticsNeurogeneticsPediatric NeurologyDevelopmental NeurologyGenetic DisordersNeurodegenerative DiseasesNeurodegenerative DisordersNeurodevelopmental DisordersNeurogenetic DisordersAtaxia SyndromesAutosomal Dominant AtaxiaAxonal Hereditary NeuropathyExtrapyramidal SignsHereditary AtaxiasPediatric Neurogenetic DisordersRepeat Expansion DisordersRepeat Expansion Mutations
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.
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