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Mutations in  LRRK2  represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is incomplete and probably due to the presence of other genetic or environmental factors required for development of the disease. We analyzed the presence of  parkin  sequence variants (mutations or polymorphisms) and exon rearrangements in  LRRK2  mutations carriers (both PD patients and unaffected relatives) in order to detect a possible modifier effect on penetrance. Eight families with nine PD patients with heterozygous  LRRK2  mutations (identified within 380 Sardinian PD patients screened for the presence of the five most common  LRRK2  mutations) and sixteen additional relatives were genetically investigated for the presence of  LRRK2  and  parkin  mutations. No evidence was found for the presence of pathological  parkin  mutations or exon rearrangements in patients or not affected family members. Three single-nucleotide polymorphisms (SNPs) were identified both in patients and unaffected relatives but did not significantly differ between the two groups. These data provide no support to the hypothesis whereby such  parkin  gene mutations may be commonly implicated in possible effect on penetrance in  LRRK2  mutation carriers.

parkinson's disease

ParkinExon Rearrangements and Sequence Variants inLRRK2Mutations Carriers: Analysis on a Possible Modifier Effect onLRRK2Penetrance