Article
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2010
Bauer Peter, Stevanin Giovanni, Beetz Christian, Synofzik Matthis, Schmitz-Hübsch Tanja, Wüllner Ullrich, Berthier Eric, Ollagnon-Roman Elisabeth, Riess Olaf, Forlani Sylvie, Mundwiller Emeline, Durr Alexandra, Schöls Ludger, Brice Alexis
Abstract excerpt
BACKGROUND: At least 28 loci have been linked to autosomal dominant spinocerebellar ataxia (ADCA). Causative genes have been cloned for 10 nucleotide repeat expansions (SCA1, 2, 3, 6, 7, 8, 10, 12, 17 and 31) and six genes with classical mutations (SCA5, 13, 14, 15/16, 27 and 28). Recently, a large British pedigree linked to SCA11 has been reported to carry a mutation in the TTBK2 gene. In order to assess the...
Topics
- Codon, Nonsense
- Family Health
- Female
- France
- Gene Dosage
- Genes, Dominant
- Germany
- Humans
- Male
- Pedigree
- Phenotype
- Polymorphism, Genetic
- Prevalence