title: Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.
abstract: Mutations in the gene Leucine-Rich Repeat Kinase 2 (LRRK2) have been identified in both dominant and sporadic cases affected by Parkinson's disease (PD). The LRRK2 G2019S mutation (c.6055G>A) is the most frequent substitution in Caucasians, accounting for approximately 5-6% of familial and 0.5-2.0% of apparently sporadic PD cases. We investigated the frequency of the LRRK2 G2019S mutation in 98 unrelated Italian PD patients, including 12 probands belonging to families compatible with autosomal dominant inheritance (12%) and 86 sporadic cases (88%). We detected the G2019S mutation in one sporadic female patient (1.2%). These results confirm that the G2019S mutation is a relevant cause of sporadic PD cases in the Italian population and stress the importance of performing this genetic test, which has important implications for genetic counselling.
authors.affiliation: Medical Genetics, Molecular Biology Department, University of Siena, V. Le Bracci, 53100, Siena, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Squillaro
authors.affiliation: Department of Neurology, University of Kentucky, Lexington, KY, 40536-0284, USA.
authors.forename: Franca
authors.initials: F
authors.lastname: Cambi
authors.affiliation: Neurology Unit, Azienda Ospedaliera Senese, Siena, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Ciacci
authors.affiliation: Department of Neurosciences, Neurology Unit, University of Siena, Siena, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Rossi
authors.affiliation: Department of Neurosciences, Neurology Unit, University of Siena, Siena, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Ulivelli
authors.affiliation: Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.affiliation: Medical Genetics, Molecular Biology Department, University of Siena, V. Le Bracci, 53100, Siena, Italy.
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Mencarelli
authors.affiliation: Medical Genetics, Molecular Biology Department, University of Siena, V. Le Bracci, 53100, Siena, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.affiliation: Medical Genetics, Molecular Biology Department, University of Siena, V. Le Bracci, 53100, Siena, Italy. renieri@unisi.it.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.affiliation: Medical Genetics, Molecular Biology Department, University of Siena, V. Le Bracci, 53100, Siena, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D018698:Glutamic Acid / Q000235:genetics*; D006801:Humans; D007558:Italy; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics*
chemical_list: D018698:Glutamic Acid; D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases