Journal of Neurology

, Volume 250, Issue 2, pp 161–163

Phenotypical variability of expanded alleles in the TATA-binding protein gene

Reduced penetrance in SCA17?

Authors

  • Christine Zühlke
    • Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. zuehlke@medinf.mu-luebeck.de
  • Ulrike Gehlken
    • Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. zuehlke@medinf.mu-luebeck.de
  • Yorck Hellenbroich
    • Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. zuehlke@medinf.mu-luebeck.de
  • Eberhard Schwinger
    • Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. zuehlke@medinf.mu-luebeck.de
  • Katrin Bürk
    • Department of Neurology, University of Tübingen, Germany
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-003-0958-7

Cite this article as:
Zühlke, C., Gehlken, U., Hellenbroich, Y. et al. J Neurol (2003) 250: 161. doi:10.1007/s00415-003-0958-7

Abstract.

Trinucleotide expansions in the gene for the TATA-binding protein (TBP) have recently been described in cerebellar ataxia associated with dementia, pyramidal tract and basal ganglia symptoms. Expansions above 45 repeat units are commonly considered pathological, causing SCA17. Here, we present a German kindred with four siblings affected by cerebellar ataxia, chorea and dementia. Molecular genetic analysis yielded an expanded SCA17 allele coding for 48 glutamine residues that was transmitted from the mother to all of her six children. Apparently, the expanded allele does not cosegregate with the disease phenotype since the mother and two of the siblings do not show any clinical abnormality. This appears to be the first description of non-penetrance in SCA17.

Key words spinocerebellar ataxia SCA17 cerebellum repeat expansion

Copyright information

© Steinkopff Verlag 2003