A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

@article{Stevanin1994ATL,
  title={A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.},
  author={Giovanni Stevanin and Eric Le Guern and Nicole Ravis{\'e} and H{\'e}rve Chneiweiss and Alexandra D{\"u}rr and G{\'e}raldine Cancel and Alain Vignal and Anne Laure Boch and Merle Ruberg and Clotilde Penet},
  journal={American journal of human genetics},
  year={1994},
  volume={54 1},
  pages={11-20}
}
The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage analysis in a non-SCA1/non-SCA2 family and have confirmed its existence in a second such family. We suggest designating this new locus "SCA3". Combined analysis of the two families… CONTINUE READING