PINK1 mutations are associated with sporadic early-onset parkinsonism.

@article{Valente2004PINK1MA,
  title={PINK1 mutations are associated with sporadic early-onset parkinsonism.},
  author={Enza Maria Valente and Sergio Salvi and T{\`a}mara Ialongo and Roberta Marongiu and A E Elia and Viviana Caputo and L M Romito and Alberto Albanese and Bruno Dallapiccola and Anna Rita Bentivoglio},
  journal={Annals of neurology},
  year={2004},
  volume={56 3},
  pages={
          336-41
        }
}
We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age. Seven of 100 patients carried missense mutations in PINK1. Two patients had two PINK1 mutations, whereas in… CONTINUE READING
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