DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients

Francesca Sironi, Paola Primignani, Sara Ricca, Sara Tunesi, Michela Zini, Silvana Tesei, Roberto Cilia, Gianni Pezzoli, Manuela Seia, Stefano Goldwurm

Research output: Contribution to journalArticle

Abstract

We analyzed the DJ1 gene in a large consecutive series ( N=. 163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset ≤40 years of age) patients and 100 healthy controls (mean age 64. ±. 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified.

Original languageEnglish
Pages (from-to)165-170
Number of pages6
JournalNeuroscience Letters
Volume557
Issue numberPB
DOIs
Publication statusPublished - Dec 17 2013

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Keywords

  • DJ1
  • Early onset Parkinson disease
  • Mutation analysis

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Sironi, F., Primignani, P., Ricca, S., Tunesi, S., Zini, M., Tesei, S., Cilia, R., Pezzoli, G., Seia, M., & Goldwurm, S. (2013). DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients. Neuroscience Letters, 557(PB), 165-170. https://doi.org/10.1016/j.neulet.2013.10.048