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

TitleFrequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
Publication TypeJournal Article
Year of Publication2006
AuthorsMarongiu, R, Ghezzi, D, Ialongo, T, Soleti, F, Elia, A, Cavone, S, Albanese, A, Altavista, MConcetta, Barone, P, Brusa, L, Cortelli, P, Petrozzi, L, Scaglione, C, Stanzione, P, Tinazzi, M, Zeviani, M, Dallapiccola, B, Bentivoglio, ARita, Valente, EMaria, Garavaglia, B
Corporate Authors
JournalMov Disord
Volume21
Issue8
Pagination1232-5
Date Published2006 Aug
ISSN0885-3185
KeywordsAmino Acid Substitution, Female, Gene Frequency, Genetic Carrier Screening, Humans, Italy, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Mutation, Parkinson Disease, Phenotype, Protein-Serine-Threonine Kinases
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.

DOI10.1002/mds.20890
Alternate JournalMov. Disord.
Citation Key10.1002/mds.20890
PubMed ID16622859