Mutations in KCND3 cause spinocerebellar ataxia type 22.

@article{Lee2012MutationsIK,
  title={Mutations in KCND3 cause spinocerebellar ataxia type 22.},
  author={Yi-Chung Lee and Alexandra Durr and Karen Majczenko and Yen-Hua Huang and Yu-Chao Liu and Cheng-Chang Lien and P B Tsai and Yaeko Ichikawa and Jun Goto and Marie-Lorraine Monin and Jun Z. Li and Ming-yi Chung and Emeline Mundwiller and Vikram G Shakkottai and Tze-tze Liu and Christelle Tesson and Yi-chun Lu and Alexis Brice and Shoji Tsuji and Margit Burmeister and Giovanni Stevanin and Bing-Wen Soong},
  journal={Annals of neurology},
  year={2012},
  volume={72 6},
  pages={859-69}
}
OBJECTIVE To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal dominant cerebellar ataxia mapped to chromosome 1p21-q23. METHODS We previously characterized a large Chinese family with progressive ataxia designated SCA22, which overlaps with the locus of SCA19. The disease locus in a French family and an Ashkenazi Jewish American family was also mapped to this region. Members from all 3 families were enrolled. Whole exome sequencing was performed to identify… CONTINUE READING