Intergenerational instability and marked anticipation in SCA-17

F. Maltecca, Alessandro Filla, I. Castaldo, G. Coppola, N. A. Fragassi, M. Carella, A. Bruni, S. Cocozza, G. Casari, A. Servadio, Giuseppe De Michele

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1441-1443
Number of pages3
JournalNeurology
Volume61
Issue number10
Publication statusPublished - Nov 25 2003

ASJC Scopus subject areas

  • Neuroscience(all)

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