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The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
Mov Disord. 2011 Aug 01; 26(9):1733-6.MD

Abstract

BACKGROUND

Mutations in the leucine-rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine-rich repeat kinase 2 mutation across several Mediterranean countries.

METHODS

One hundred ninety-two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion.

RESULTS

Among 192 patients with Parkinson's disease (mean age±SD, 63.9±11.8 years; disease onset, 54.0±12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect.

CONCLUSIONS

G2019S is not ubiquitously the most common leucine-rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region-specific mutation prevalence data should be taken into account for a sensitive and cost-effective molecular diagnosis and counseling of patients with Parkinson's disease.

Authors+Show Affiliations

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. sky569@libero.itNo 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
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21538529

Citation

Criscuolo, Chiara, et al. "The LRRK2 R1441C Mutation Is More Frequent Than G2019S in Parkinson's Disease Patients From Southern Italy." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 26, no. 9, 2011, pp. 1733-6.
Criscuolo C, De Rosa A, Guacci A, et al. The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy. Mov Disord. 2011;26(9):1733-6.
Criscuolo, C., De Rosa, A., Guacci, A., Simons, E. J., Breedveld, G. J., Peluso, S., Volpe, G., Filla, A., Oostra, B. A., Bonifati, V., & De Michele, G. (2011). The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy. Movement Disorders : Official Journal of the Movement Disorder Society, 26(9), 1733-6. https://doi.org/10.1002/mds.23735
Criscuolo C, et al. The LRRK2 R1441C Mutation Is More Frequent Than G2019S in Parkinson's Disease Patients From Southern Italy. Mov Disord. 2011 Aug 1;26(9):1733-6. PubMed PMID: 21538529.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy. AU - Criscuolo,Chiara, AU - De Rosa,Anna, AU - Guacci,Anna, AU - Simons,Erik J, AU - Breedveld,Guido J, AU - Peluso,Silvio, AU - Volpe,Giampiero, AU - Filla,Alessandro, AU - Oostra,Ben A, AU - Bonifati,Vincenzo, AU - De Michele,Giuseppe, Y1 - 2011/04/29/ PY - 2010/12/11/received PY - 2011/02/22/revised PY - 2011/02/24/accepted PY - 2011/5/4/entrez PY - 2011/5/4/pubmed PY - 2011/12/13/medline SP - 1733 EP - 6 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 26 IS - 9 N2 - BACKGROUND: Mutations in the leucine-rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine-rich repeat kinase 2 mutation across several Mediterranean countries. METHODS: One hundred ninety-two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion. RESULTS: Among 192 patients with Parkinson's disease (mean age±SD, 63.9±11.8 years; disease onset, 54.0±12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect. CONCLUSIONS: G2019S is not ubiquitously the most common leucine-rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region-specific mutation prevalence data should be taken into account for a sensitive and cost-effective molecular diagnosis and counseling of patients with Parkinson's disease. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/21538529/The_LRRK2_R1441C_mutation_is_more_frequent_than_G2019S_in_Parkinson's_disease_patients_from_southern_Italy_ L2 - https://doi.org/10.1002/mds.23735 DB - PRIME DP - Unbound Medicine ER -