@article{02c7d09530ba4ebb85a19cc6cb5237c8,
title = "Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease",
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.",
keywords = "Amino Acid Substitution, Female, Gene Frequency, Heterozygote Detection, Humans, Italy, Male, Mutation, Parkinson Disease, Phenotype, Protein-Serine-Threonine Kinases, Amino Acid Substitution, Female, Gene Frequency, Heterozygote Detection, Humans, Italy, Male, Mutation, Parkinson Disease, Phenotype, Protein-Serine-Threonine Kinases",
author = "R Marongiu and Daniele Ghezzi and Tamara Ialongo and Francesco Soleti and Elia, {Antonio Emanuele} and S Cavone and Alberto Albanese and Altavista, {Maria Concetta} and Paolo Barone and L Brusa and Pietro Cortelli and L Petrozzi and Cesa Scaglione and P Stanzione and Michele Tinazzi and M Zeviani and B Dallapiccola and Bentivoglio, {Anna Rita} and Valente, {Enza Maria} and B Garavaglia",
year = "2006",
doi = "10.1002/mds.20890",
language = "English",
volume = "21",
pages = "1232--1235",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320",
}