Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

@inproceedings{Quadri2011BroadeningTP,
  title={Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia},
  author={Marialuisa Quadri and Giovanni A. Cossu and Valeria M. Saddi and Erik J. Simons and Daniela Murgia and Maurizio Melis and Anna Claudia Ticca and BenA. Oostra and Vincenzo Bonifati},
  booktitle={neurogenetics},
  year={2011}
}
Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they have not been found so far in patients with Parkinson’s disease (PD). A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in Sardinia, a Mediterranean genetic isolate. We studied 327 consecutive Sardinian patients with clinically diagnosed PD (88 familial, 239 sporadic) and 578 Sardinian… CONTINUE READING
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