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.
authors.affiliation: IRCCS CSS, Mendel Institute, Rome.
authors.forename: Roberta
authors.initials: R
authors.lastname: Marongiu
authors.forename: Daniele
authors.initials: D
authors.lastname: Ghezzi
authors.forename: Tamara
authors.initials: T
authors.lastname: Ialongo
authors.forename: Francesco
authors.initials: F
authors.lastname: Soleti
authors.forename: Antonio
authors.initials: A
authors.lastname: Elia
authors.forename: Stefania
authors.initials: S
authors.lastname: Cavone
authors.forename: Alberto
authors.initials: A
authors.lastname: Albanese
authors.forename: Maria Concetta
authors.initials: MC
authors.lastname: Altavista
authors.forename: Paolo
authors.initials: P
authors.lastname: Barone
authors.forename: Livia
authors.initials: L
authors.lastname: Brusa
authors.forename: Pietro
authors.initials: P
authors.lastname: Cortelli
authors.forename: Lucia
authors.initials: L
authors.lastname: Petrozzi
authors.forename: Cesa
authors.initials: C
authors.lastname: Scaglione
authors.forename: Paolo
authors.initials: P
authors.lastname: Stanzione
authors.forename: Michele
authors.initials: M
authors.lastname: Tinazzi
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Bentivoglio
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
mesh_terms: D019943:Amino Acid Substitution; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D007558:Italy; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D009154:Mutation; D010300:Parkinson Disease / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases