Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family.

@article{WilderSmith2003SpinocerebellarAT,
  title={Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family.},
  author={Einar P. V. Wilder-Smith and Eng-King Tan and Hai-yang Law and Yi Zhao and Ivy Swee Lian Ng and Meng Cheong Wong},
  journal={Journal of the neurological sciences},
  year={2003},
  volume={213 1-2},
  pages={25-8}
}
The clinical spectrum of spinocerebellar ataxia 3 (SCA 3) disease is wide and varied. We describe a Chinese patient with a mutation at the SCA 3 locus with clinical features of levodopa-responsive dystonia. The family history was suggestive of being autosomally dominant. Levodopa responsiveness though rare has been described in families with features of parkinsonism. Noteworthy is the relatively late onset of disease (>40 years) possibly explained by the low number of affected alleles at 59… CONTINUE READING