Complex phenotypes in an Indian family with homozygous SCA2 mutations.

@article{Ragothaman2004ComplexPI,
  title={Complex phenotypes in an Indian family with homozygous SCA2 mutations.},
  author={Mona Ragothaman and Nagaraja Sarangmath and Shashi Chaudhary and Vishwamohini Khare and Uma Mittal and Sangeeta Sharma and Sreelatha Komatireddy and Subhabrata Chakrabarti and Mitali Mukerji and Ramesh C. Juyal and B K Thelma and Uday B. Muthane},
  journal={Annals of neurology},
  year={2004},
  volume={55 1},
  pages={130-3}
}
We describe a consanguineous Indian family having spinocerebellar ataxia type 2 (SCA2) expansions with complex phenotypes (early-onset, dopa-responsive parkinsonism, ataxia and retinitis pigmentosa). The two probands having homozygous SCA2 mutations presenting with early-onset dopa-responsive parkinsonism without ataxia develop dyskinesias within a year of starting levodopa. Their siblings, heterozygous for SCA2 mutations, had retinitis pigmentosa with or without ataxia. Approximately 38% of… CONTINUE READING

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