Dementia, ataxia, extrapyramidal features, and epilepsy: Phenotype spectrum in two Italian families with spinocerebellar ataxia type 17

G. De Michele, F. Maltecca, M. Carella, G. Volpe, M. Orio, A. De Falco, S. Gombia, A. Servadio, G. Casari, A. Filla, A. Bruni

Research output: Contribution to journalArticle

Abstract

We observed two families with a dominantly inherited complex neurological syndrome with onset in adulthood. Family F included 9 affected in four generations. One patient showed prominent anticipation of onset age. Onset was with cerebellar signs followed by dementia, psychiatric symptoms, seizures, and extrapyramidal features. Family M included 14 affected individuals in five generations. Presenting symptoms were either psychiatric and cognitive impairment or a cerebellar syndrome. Extrapyramidal features, dysphagia, incontinence, seizures, and myoclonus may occur. In both families magnetic resonance imaging showed marked atrophy of the brain and cerebellum. Molecular analyses demonstrated an expanded CAG/CAA repeat in the in the TATA box-binding protein (TBP) gene (SCA17).

Original languageEnglish
Pages (from-to)166-167
Number of pages2
JournalNeurological Sciences
Volume24
Issue number3
DOIs
Publication statusPublished - Oct 2003

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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