PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

@article{Olgiati2014PARK20CB,
  title={PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family},
  author={Simone Olgiati and Anna Chiara De Rosa and Marialuisa Quadri and Chiara Criscuolo and Guido J. Breedveld and Marina Picillo and Sabina Pappat{\`a} and Mario Quarantelli and Paolo Barone and Giuseppe De Michele and Vincenzo Bonifati},
  journal={neurogenetics},
  year={2014},
  volume={15},
  pages={183-188}
}
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20). Two consanguineous families were initially reported (one of Sicilian and one of Iranian origins), with the same SYNJ1 homozygous mutation (c.773G > A, p.Arg258Gln) segregating with a similar phenotype of early-onset parkinsonism and additional atypical features. Here, we report the identification of the same SYNJ1 homozygous… CONTINUE READING
16 Extracted Citations
16 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.
Showing 1-10 of 16 extracted citations

Referenced Papers

Publications referenced by this paper.
Showing 1-10 of 16 references

Similar Papers

Loading similar papers…