High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal

Joaquim J. Ferreira, Leonor Correia Guedes, Mário Miguel Rosa, Miguel Coelho, Marina Van Doeselaar, Dorothea Schweiger, Alessio Di Fonzo, Ben A. Oostra, Cristina Sampaio, Vincenzo Bonifati

Research output: Contribution to journalArticlepeer-review


Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent LRRK2 mutations (R1441C, R1441G, R1441H, and G2019S) in familial and sporadic PD from a single referral center in Lisbon, Portugal. Among 138 unrelated PD probands, we identified 9 heterozygous G2019S carriers (6.52%) and 1 heterozygous R1441H carrier (0.72%). The G2019S mutation was present in 4 of the 107 sporadic (3.74%) and in 5 of the 31 familial probands (16.1%). Mutations were not found among 101 Portuguese controls. The G2019S mutation was present on a single haplotype and displayed reduced penetrance. Heterozygous parkin gene mutations were also found in 2 G2019S-positive probands, but their pathogenic role is unclear. The clinical phenotype in patients with LRRK2 mutations was indistinguishable from that of typical PD, including impaired sense of smell. The G2019S mutation is a very common genetic determinant among the Portuguese patients with PD, and the R1441H mutation is also present in this population. These data have important implications for the diagnostic work-up and genetic counseling of patients with this disease in Portugal.

Original languageEnglish
Pages (from-to)1194-1201
Number of pages8
JournalMovement Disorders
Issue number8
Publication statusPublished - Jun 15 2007


  • LRRK2
  • Mutation
  • Parkin
  • Parkinson's disease
  • Portugal

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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