A survey of spinocerebellar ataxia in South Brazil – 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease–causing mutations

@article{Jardim2001ASO,
  title={A survey of spinocerebellar ataxia in South Brazil – 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease–causing mutations},
  author={Laura Bannach Jardim and Isabel Silveira and Maria Luzia Pereira and Anabela Ferro and Isabel Alonso and Maria do C{\'e}u Moreira and Pedro Mendonca and F{\'a}tima Ferreirinha and J Sequeiros and Roberto Giugliani},
  journal={Journal of Neurology},
  year={2001},
  volume={248},
  pages={870-876}
}
Background The autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically heterogeneous group of debilitating, neurodegenerative diseases, related to fourteen different loci– SCAs 1, 2, 4, 5, 6, 7, 8, 10, 11, 12, 13 and 14, Machado-Joseph disease (MJD/SCA 3), and DRPLA. Objectives (1) to verify the frequency of SCA1, SCA2, MJD, DRPLA, SCA6, SCA7 and SCA8 in a series of new SCA patients from South Brazil and (2) to compare their molecular and clinical characteristics with… CONTINUE READING