Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms.

@article{Gens1995ClinicalNA,
  title={Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms.},
  author={David Gen{\'i}s and Toni Matilla and V{\'i}ctor Volpini and Jordi Rosell and Antoni Davalos and Isidro Ferrer and A. Molins and Xavier Estivill},
  journal={Neurology},
  year={1995},
  volume={45 1},
  pages={24-30}
}
We report the clinical, neuropathologic, and genetic studies of a large kindred (family M-ADCA1) with autosomal dominant spinocerebellar ataxia type 1 (SCA1), ascertained in 41 members, with clinical data available in twenty-two. The mean age of onset was 36.3 +/- 6.2 years (ages, 26 to 52), the mean duration of the disease was 15.8 +/- 6.5 years (range, 10 to 28 years), and the mean age at death was 54.1 +/- 9.5 years (ages, 39 to 72). Premonitory signs and symptoms appeared earlier than the… CONTINUE READING

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