Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7

@article{Bonifati2002AutosomalRE,
  title={Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7},
  author={Vincenzo Bonifati and M.C.J. Dekker and Nicola Vanacore and Giovanni Fabbrini and Ferdinando Squitieri and R Marconi and Angelo Antonini and Pierluigi Brustenghi and A. Dalla Libera and Michele De Mari and Fabrizio Stocchi and Pasquale Montagna and Virgilio Gallai and Patrizia Rizzu and John van Swieten and Ben A. Oostra and Cornelia M. van Duijn and Giuseppe Meco and Peter Heutink},
  journal={Neurological Sciences},
  year={2002},
  volume={23},
  pages={s59-s60}
}
Autosomal recessive, early onset parkinsonism (AREP) is genetically heterogeneous. Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families. The parkin protein displays ubiquitin-ligase activity for different targets, which accumulate in the brain of patients with parkin defect and might cause neurodegeneration. Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might… CONTINUE READING
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