Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

Roberta Marongiu, Daniele Ghezzi, Tamara Ialongo, Francesco Soleti, Antonio Elia, Stefania Cavone, Alberto Albanese, Maria Concetta Altavista, Paolo Barone, Livia Brusa, Pietro Cortelli, Lucia Petrozzi, Cesa Scaglione, Paolo Stanzione, Michele Tinazzi, Massimo Zeviani, Bruno Dallapiccola, Anna Rita Bentivoglio, Enza Maria Valente, Barbara GaravagliaElena Conca, Alfonso Fasano, Cecilia Marelli, Paolo Martinelli, Giampietro Nordera, Maria Teresa Pellecchia

Research output: Contribution to journalArticlepeer-review

Abstract

To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only probands with autosomal dominant inheritance, the G2019S frequency raises to 5.2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD.

Original languageEnglish
Pages (from-to)1232-1235
Number of pages4
JournalMovement Disorders
Volume21
Issue number8
DOIs
Publication statusPublished - Aug 2006

Keywords

  • Dardarin
  • Italy
  • LRRK2
  • Mutation screening
  • Parkinson's disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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