Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.

@article{Ibez2004CausalRB,
  title={Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.},
  author={Pablo Ib{\'a}{\~n}ez and A-M Bonnet and B{\'e}atrice D{\'e}barges and Ebba Lohmann and Francois Tison and Pierre Pollak and Yves Agid and Alexandra D{\"u}rr and Alexis Brice},
  journal={Lancet},
  year={2004},
  volume={364 9440},
  pages={1169-71}
}
The alpha-synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinson's disease. We screened 119 individuals from families with this rare form of the disease for SNCA duplications by semiquantitative multiplex PCR. Two patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistinguishable from idiopathic Parkinson's disease and no atypical features were present, by contrast with… CONTINUE READING
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