Cognitive impairment in SCA-19

Acta Neurol Belg. 2003 Dec;103(4):199-205.

Abstract

The autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders characterised by progressive cerebellar dysfunction in combination with various associated features. Since 1993, ADCAs have been increasingly characterised in terms of their genetic mutation and are currently referred to as spinocerebellar ataxias (SCAs). The discovery of genetic abnormalities offers the opportunity to study the possible interaction between the identified gene mutation and cognitive function. In this study, we focus on the neuropsychological abnormalities in a Dutch ADCA family, in which a new locus was recently identified (SCA-19). The family members showed frontal-executive dysfunction, with global cognitive impairment occurring in some of the more severely affected patients. Interestingly, the neuropsychological profile of this new family seems to overlap that of individuals with various other SCAs. Apparently, similar pattern of neuronal degeneration in various SCA subtypes accounts for the neuropsychological dysfunction, which is thus not genotype specific.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Cognition / physiology*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Neuropsychological Tests
  • Pedigree
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / physiopathology*