Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.

@article{BaizabalCarvallo2015BolivianKW,
  title={Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.},
  author={J F Baizabal-Carvallo and Guangbin Xia and Philip Botros and Janeth Laguna and Tetsuo Ashizawa and Joseph Jankovic},
  journal={Acta neurologica Scandinavica},
  year={2015},
  volume={132 2},
  pages={139-42}
}
BACKGROUND Spinocerebellar ataxias (SCA) are a group of rare hereditary neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have been reported in the literature, however, family descriptions are lacking. AIMS To characterize a family with combined SCA2 and SCA10 mutations. MATERIALS & METHODS Analysis of the clinical features and genetic findings of a Bolivian family expressing both SCA2 and SCA10 mutations. RESULTS The index case and his mother had both… CONTINUE READING