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

Neurol Sci. 2003 Oct;24(3):166-7. doi: 10.1007/s10072-003-0112-4.

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).

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Ataxia / etiology*
  • Ataxia / genetics
  • Basal Ganglia Diseases / etiology*
  • Basal Ganglia Diseases / genetics
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • DNA Repeat Expansion
  • Dementia / etiology*
  • Dementia / genetics
  • Electroencephalography
  • Epilepsy / etiology*
  • Epilepsy / genetics
  • Family Health*
  • Female
  • Humans
  • Italy
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Molecular Biology
  • Phenotype
  • RNA, Messenger / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Spinocerebellar Ataxias / complications*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics
  • TATA-Box Binding Protein / genetics

Substances

  • RNA, Messenger
  • TATA-Box Binding Protein