Journal of Neurology

, Volume 248, Issue 2, pp 113–120 | Cite as

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

  • H.J. Schelhaas
  • P.F. Ippel
  • G. Hageman
  • R.J. Sinke
  • E.N. van der Laan
  • F.A. Beemer
Original communication

Abstract

The autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders characterised by progressive cerebellar dysfunction in combination with a variety of other associative features. Since 1993 ADCAs have been increasingly characterised in terms of their genetic mutation and are referred to as spinocerebellar ataxias (SCAs). Some families with ADCA cannot be assigned to any of the known genotypes, which implies further genetic heterogeneity. We investigated the clinical symptoms of 12 patients of a four-generation family with ADCA and carried out mutation and genetic linkage studies. The family showed a relatively mild cerebellar ataxic syndrome with congitive impairment, poor performance on the Wisconsin Card Sorting Test, myoclonus, and a postural irregular tremor of slow frequency. Age at disease onset and severity of cerebellar signs and symptoms suggest anticipation. The genetic loci implicated in ADCA were excluded by mutation analyses (SCA 1,2,3,6,7,8,12) and genetic linkage (SCA 4,5,6,10,11). We conclude that this family represents a clinically and genetically distinct form of SCA.

Key words Spinocerebellar ataxia Myoclonus Cognitive impairment Wisconsin Card Sorting Test 

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Copyright information

© Steinkopff Verlag 2001

Authors and Affiliations

  • H.J. Schelhaas
    • 1
  • P.F. Ippel
    • 3
  • G. Hageman
    • 1
  • R.J. Sinke
    • 3
  • E.N. van der Laan
    • 2
  • F.A. Beemer
    • 3
  1. 1.Department of Neurology, Medical Spectrum Twente Enschede, The NetherlandsNL
  2. 2.Department of Medical Psychology, Medical Spectrum Twente Enschede, The NetherlandsNL
  3. 3.Department of Medical Genetics, University Medical Centre Utrecht, The NetherlandsNL

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