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

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....

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Detalles Bibliográficos
Autores principales: Sironi, Francesca, Primignani, Paola, Ricca, Sara, Tunesi, Sara, Zini, Michela, Tesei, Silvana, Cilia, Roberto, Pezzoli, Gianni, Seia, Manuela, Goldwurm, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Scientific Publishers Ireland 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3878804/
https://www.ncbi.nlm.nih.gov/pubmed/24176883
http://dx.doi.org/10.1016/j.neulet.2013.10.048
Descripción
Sumario: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.

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