Journal of Neurology

, Volume 250, Issue 6, pp 668–671

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

  • Y. Hellenbroich
  • S. Bubel
  • H. Pawlack
  • S. Opitz
  • P. Vieregge
  • E. Schwinger
  • C. Zühlke
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-003-1052-x

Cite this article as:
Hellenbroich, Y., Bubel, S., Pawlack, H. et al. J Neurol (2003) 250: 668. doi:10.1007/s00415-003-1052-x

Abstract.

Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.

Key words SCA4spinocerebellar ataxialinkage analysisCAG repeats

Copyright information

© Steinkopff Verlag 2003

Authors and Affiliations

  • Y. Hellenbroich
    • 1
  • S. Bubel
    • 2
  • H. Pawlack
    • 1
  • S. Opitz
    • 1
  • P. Vieregge
    • 2
  • E. Schwinger
    • 1
  • C. Zühlke
    • 1
  1. 1.Department of Human Genetics; University of Lübeck; Ratzeburger Allee 160; 23538 Lübeck, Germany: hellenbroich@gmx.deDE
  2. 2.Department of Neurology, University of Lübeck, Lübeck, GermanyDE