ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

  title={ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease},
  author={Alessio Di Fonzo and Hsin Fen Chien and Mariana P Socal and Sabrina Giraudo and Cristina Tassorelli and Giovanni Iliceto and Giovanni Fabbrini and R. Marconi and Emiliana Fincati and Giovanni Abbruzzese and Paolo Marini and Ferdinando Squitieri and Martin W. I. M. Horstink and Pasquale Montagna and A. Dalla Libera and Fabrizio Stocchi and Stefano Goldwurm and Joaquim J. Ferreira and Giuseppe Meco and Emilia Martignoni and Leonardo Lopiano and Laura Bannach Jardim and Ben A. Oostra and Egberto Reis Barbosa and Vincenzo Bonifati},
  pages={1557 - 1562}
Objective: To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD). Methods: We studied 46 patients, mostly from Italy or Brazil, including 11 with juvenile parkinsonism and 35 with YOPD. Thirty-three cases were sporadic and 13 had positive family history compatible with autosomal recessive inheritance. Forty-two had only parkinsonian signs… 

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