LRRK2 mutations in Parkinson's disease: Confirmation of a gender effect in the Italian population

Roberto Cilia, Chiara Siri, Damiana Rusconi, Roberta Allegra, Andrea Ghiglietti, Giorgio Sacilotto, Michela Zini, Anna L. Zecchinelli, Rosanna Asselta, Stefano Duga, Anna M. Paganoni, Gianni Pezzoli, Manuela Seia, Stefano Goldwurm

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

22 Citazioni (Scopus)


The relative risk of developing idiopathic PD is 1.5 times greater in men than in women, but an increased female prevalence in LRRK2-carriers has been described in the Ashkenazi Jewish population. We report an update about the frequency of major LRRK2 mutations in a large series of consecutive patients with Parkinson's disease (PD), including extensive characterization of clinical features. In particular, we investigated gender-related differences in motor and non-motor symptoms in the LRRK2 population. Methods: 2976 unrelated consecutive Italian patients with degenerative Parkinsonism were screened for mutations on exon 41 (G2019S, I2020T) and a subgroup of 1190 patients for mutations on exon 31 (R1441C/G/H). Demographic and clinical features were compared between LRRK2-carriers and non-carriers, and between male and female LRRK2 mutation carriers. Results: LRRK2 mutations were identified in 40 of 2523 PD patients (1.6%) and not in other primary parkinsonian syndromes. No major clinical differences were found between LRRK2-carriers and non-carriers. We found a novel I2020L missense variant, predicted to be pathogenic. Female gender was more common amongst carriers than non-carriers (57% vs. 40%; p=0.01), without any gender-related difference in clinical features. Family history of PD was more common in women in the whole PD group, regardless of their LRRK2 status. Conclusions: PD patients with LRRK2 mutations are more likely to be women, suggesting a stronger genetic load compared to idiopathic PD. Further studies are needed to elucidate whether there is a different effect of gender on the balance between genetic and environmental factors in the pathogenesis of PD. © 2014 The Authors.
Lingua originaleEnglish
pagine (da-a)911-914
Numero di pagine4
Stato di pubblicazionePubblicato - 2014
Pubblicato esternamente


  • LRRK2
  • Parkinson disease
  • gender
  • genetics


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