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

doi:10.1002/mds.20890

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Article

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

Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2006

Marongiu Roberta, Ghezzi Daniele, Ialongo Tamara, Soleti Francesco, Elia Antonio, Cavone Stefania, Albanese Alberto, Altavista Maria Concetta, Barone Paolo, Brusa Livia, Cortelli Pietro, Petrozzi Lucia, Scaglione Cesa, Stanzione Paolo, Tinazzi Michele, Zeviani Massimo, Dallapiccola Bruno, Bentivoglio Anna Rita, Valente Enza Maria, Garavaglia Barbara

Abstract excerpt

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...

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PMID: 16622859
DOI: 10.1002/mds.20890

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Source receipt: pubmed, retrieved 7 Sept 2026.

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