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

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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.

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Authors and Affiliations

  1. Department of Human Genetics; University of Lübeck; Ratzeburger Allee 160; 23538 Lübeck, Germany: hellenbroich@gmx.de, , , , , , DE

    Y. Hellenbroich, H. Pawlack, S. Opitz, E. Schwinger & C. Zühlke

  2. Department of Neurology, University of Lübeck, Lübeck, Germany, , , , , , DE

    S. Bubel & P. Vieregge

Authors
  1. Y. Hellenbroich
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  2. S. Bubel
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  3. H. Pawlack
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  4. S. Opitz
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  5. P. Vieregge
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  6. E. Schwinger
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  7. C. Zühlke
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Additional information

Received: 28 October 2002, Received in revised form: 16 December 2002, Accepted: 19 December 2002

Correspondence to: Dr. Yorck Hellenbroich

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Hellenbroich, Y., Bubel, S., Pawlack, H. et al. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. J Neurol 250, 668–671 (2003). https://doi.org/10.1007/s00415-003-1052-x

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  • DOI: https://doi.org/10.1007/s00415-003-1052-x

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