Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.

@article{ChartierHarlin2004AlphasynucleinLD,
  title={Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.},
  author={Marie-Christine Chartier-Harlin and Jennifer M. Kachergus and Christophe Roumier and Vincent Mouroux and Xavier Douay and Sarah L. Lincoln and Clotilde Levecque and Lydie Larvor and Joris Loup Andrieux and Mary M. Hulihan and Nawal Waucquier and L. Defebvre and Phillippe Amouyel and Matthew J. Farrer and Alain Dest{\'e}e},
  journal={Lancet},
  year={2004},
  volume={364 9440},
  pages={
          1167-9
        }
}
Genomic triplication of the alpha-synuclein gene (SNCA) has been reported to cause hereditary early-onset parkinsonism with dementia. These findings prompted us to screen for multiplication of the SNCA locus in nine families in whom parkinsonism segregates as an autosomal dominant trait. One kindred was identified with SNCA duplication by semiquantitative PCR and confirmed by fluorescent in-situ hybridisation analysis in peripheral leucocytes. By contrast with SNCA triplication families, the… CONTINUE READING

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