Neurological Sciences

, Volume 24, Issue 3, pp 166–167

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

Authors

  • G. De Michele
    • Dipartimento di Scienze NeurologicheUniversità Federico II
  • F. Maltecca
    • DIBIT-Istituto Scientifico San Raffaele
  • M. Carella
    • TIGEM
  • G. Volpe
    • Dipartimento di Scienze NeurologicheUniversità Federico II
  • M. Orio
    • Dipartimento di Scienze NeurologicheUniversità Federico II
  • A. De Falco
    • Dipartimento di Scienze NeurologicheUniversità Federico II
  • S. Gombia
    • Dipartimento di Scienze NeurologicheUniversità Federico II
  • A. Servadio
    • Laboratorio di Medicina MolecolareUniversità di Milano-Bicocca
  • G. Casari
    • DIBIT-Istituto Scientifico San Raffaele
  • A. Filla
    • Dipartimento di Scienze NeurologicheUniversità Federico II
  • A. Bruni
    • Centro Regionale NeurogeneticaLamezia Terme
ORIGINAL

DOI: 10.1007/s10072-003-0112-4

Cite this article as:
De Michele, G., Maltecca, F., Carella, M. et al. Neurol Sci (2003) 24: 166. 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).

Copyright information

© Springer-Verlag Italia 2003