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Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.
Parkinsonism Relat Disord. 2009 May; 15(4):277-80.PR

Abstract

Mutations in the LRRK2 gene are the most common known cause of familial and sporadic Parkinson's disease (PD). Few studies performed to date to assess frequency of these mutations are actually only representative of specific areas. Here we study the frequency and clinical phenotype of LRRK2 G2019S, I2020T and R1441C/G/H mutations in 356 Sardinian patients with idiopathic PD and 208 controls. Seventeen additional subjects, relatives of PD mutated probands, were enrolled. Eight patients were mutated in heterozygosis for LRRK2 gene (2.3%): six carried the G2019S (1.7%) and two the R1441C (0.6%) mutation. Three PD patients G2019S carriers (50%) were detected in two contiguous villages comprising 3921 inhabitants while the other three (50%) were identified in the remaining population of 796,079 inhabitants. Only one mutated proband had a family history of PD. LRRK2 G2019S and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients. The detection of the G2019S variant in ten unaffected relatives confirms a reduced penetrance of the underlying mutation and might explain its prevalence among patients with sporadic PD. These findings may provide new insights into the importance of studies of frequency of LRKK2 mutations in PD patients originating from small ethnically homogeneous populations.

Authors+Show Affiliations

Centro per i Disordini del Movimento, Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, University of Cagliari, Cagliari, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18805725

Citation

Floris, Gianluca, et al. "Genetic Analysis for Five LRRK2 Mutations in a Sardinian Parkinsonian Population: Importance of G2019S and R1441C Mutations in Sporadic Parkinson's Disease Patients." Parkinsonism & Related Disorders, vol. 15, no. 4, 2009, pp. 277-80.
Floris G, Cannas A, Solla P, et al. Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients. Parkinsonism Relat Disord. 2009;15(4):277-80.
Floris, G., Cannas, A., Solla, P., Murru, M. R., Tranquilli, S., Corongiu, D., Rolesu, M., Cuccu, S., Sardu, C., Marrosu, F., & Marrosu, M. G. (2009). Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients. Parkinsonism & Related Disorders, 15(4), 277-80. https://doi.org/10.1016/j.parkreldis.2008.06.009
Floris G, et al. Genetic Analysis for Five LRRK2 Mutations in a Sardinian Parkinsonian Population: Importance of G2019S and R1441C Mutations in Sporadic Parkinson's Disease Patients. Parkinsonism Relat Disord. 2009;15(4):277-80. PubMed PMID: 18805725.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients. AU - Floris,Gianluca, AU - Cannas,Antonino, AU - Solla,Paolo, AU - Murru,Maria Rita, AU - Tranquilli,Stefania, AU - Corongiu,Daniela, AU - Rolesu,Marcella, AU - Cuccu,Stefania, AU - Sardu,Claudia, AU - Marrosu,Francesco, AU - Marrosu,Maria Giovanna, Y1 - 2008/09/20/ PY - 2008/01/25/received PY - 2008/06/27/revised PY - 2008/06/30/accepted PY - 2008/9/23/pubmed PY - 2009/8/11/medline PY - 2008/9/23/entrez SP - 277 EP - 80 JF - Parkinsonism & related disorders JO - Parkinsonism Relat Disord VL - 15 IS - 4 N2 - Mutations in the LRRK2 gene are the most common known cause of familial and sporadic Parkinson's disease (PD). Few studies performed to date to assess frequency of these mutations are actually only representative of specific areas. Here we study the frequency and clinical phenotype of LRRK2 G2019S, I2020T and R1441C/G/H mutations in 356 Sardinian patients with idiopathic PD and 208 controls. Seventeen additional subjects, relatives of PD mutated probands, were enrolled. Eight patients were mutated in heterozygosis for LRRK2 gene (2.3%): six carried the G2019S (1.7%) and two the R1441C (0.6%) mutation. Three PD patients G2019S carriers (50%) were detected in two contiguous villages comprising 3921 inhabitants while the other three (50%) were identified in the remaining population of 796,079 inhabitants. Only one mutated proband had a family history of PD. LRRK2 G2019S and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients. The detection of the G2019S variant in ten unaffected relatives confirms a reduced penetrance of the underlying mutation and might explain its prevalence among patients with sporadic PD. These findings may provide new insights into the importance of studies of frequency of LRKK2 mutations in PD patients originating from small ethnically homogeneous populations. SN - 1873-5126 UR - https://www.unboundmedicine.com/medline/citation/18805725/Genetic_analysis_for_five_LRRK2_mutations_in_a_Sardinian_parkinsonian_population:_importance_of_G2019S_and_R1441C_mutations_in_sporadic_Parkinson's_disease_patients_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1353-8020(08)00211-3 DB - PRIME DP - Unbound Medicine ER -