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LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Arch Neurol. 2007 Mar; 64(3):425-30.AN

Abstract

BACKGROUND

Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.

OBJECTIVES

To assess the frequency of LRRK2 exon 41 mutations in a series of sporadic PD cases from Europe and to determine the clinical features of LRRK2 mutation carriers.

DESIGN

We analyzed European cases of sporadic PD for the presence of LRRK2 exon 41 mutations. These mutations were screened by denaturing high-performance liquid chromatography, and abnormal chromatograph traces were investigated by direct sequencing to determine the exact nature of the variants. Early-onset sporadic PD cases were also screened for parkin mutations. The haplotypes associated with the G2019S mutation were determined. The clinical characteristics of patients carrying LRRK2 mutations were detailed.

SETTING

French Network for the Study of Parkinson Disease Genetics. Patients Three hundred twenty patients with apparently sporadic PD from Europe.

MAIN OUTCOME MEASURES

Results of genetic analyses.

RESULTS

We found the G2019S mutation in 6 patients and identified 2 new variants (Y2006H and T2031S) in 1 patient each. Their clinical features were similar to those of typical PD. All G2019S mutation carriers shared a common haplotype.

CONCLUSIONS

The G2019S mutation is almost as frequent in sporadic cases (1.9%) as in previously reported familial cases (2.9%) in Europe and occurs in the same common founder. We identified 2 novel variants. Although the phenotype of LRRK2 mutation carriers closely resembles that of typical PD, the age at onset was younger (29 years in 1 patient) than previously described, and 3 patients were improved by deep brain stimulation.

Authors+Show Affiliations

Institut National de la Santé et de la Recherche Médicale Unité 679, Neurology and Experimental Therapeutics, and Faculté de Médecine, Université Pierre et Marie Curie, 75651 Paris CEDEX 13, France.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 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 availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17353388

Citation

Lesage, Suzanne, et al. "LRRK2 Exon 41 Mutations in Sporadic Parkinson Disease in Europeans." Archives of Neurology, vol. 64, no. 3, 2007, pp. 425-30.
Lesage S, Janin S, Lohmann E, et al. LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. Arch Neurol. 2007;64(3):425-30.
Lesage, S., Janin, S., Lohmann, E., Leutenegger, A. L., Leclere, L., Viallet, F., Pollak, P., Durif, F., Thobois, S., Layet, V., Vidailhet, M., Agid, Y., Dürr, A., Brice, A., Bonnet, A. M., Borg, M., Broussolle, E., Damier, P., Destée, A., ... Vérin, M. (2007). LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. Archives of Neurology, 64(3), 425-30.
Lesage S, et al. LRRK2 Exon 41 Mutations in Sporadic Parkinson Disease in Europeans. Arch Neurol. 2007;64(3):425-30. PubMed PMID: 17353388.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. AU - Lesage,Suzanne, AU - Janin,Sabine, AU - Lohmann,Ebba, AU - Leutenegger,Anne-Louise, AU - Leclere,Laurence, AU - Viallet,François, AU - Pollak,Pierre, AU - Durif,Franck, AU - Thobois,Stéphane, AU - Layet,Valérie, AU - Vidailhet,Marie, AU - Agid,Yves, AU - Dürr,Alexandra, AU - Brice,Alexis, AU - ,, AU - Bonnet,Anne-Marie, AU - Borg,Michel, AU - Broussolle,Emmanuel, AU - Damier,Philippe, AU - Destée,Alain, AU - Martinez,Maria, AU - Penet,Christiane, AU - Rasco,Olivier, AU - Tison,François, AU - Tranchan,Christine, AU - Vérin,Marc, PY - 2007/3/14/pubmed PY - 2007/4/25/medline PY - 2007/3/14/entrez SP - 425 EP - 30 JF - Archives of neurology JO - Arch Neurol VL - 64 IS - 3 N2 - BACKGROUND: Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases. OBJECTIVES: To assess the frequency of LRRK2 exon 41 mutations in a series of sporadic PD cases from Europe and to determine the clinical features of LRRK2 mutation carriers. DESIGN: We analyzed European cases of sporadic PD for the presence of LRRK2 exon 41 mutations. These mutations were screened by denaturing high-performance liquid chromatography, and abnormal chromatograph traces were investigated by direct sequencing to determine the exact nature of the variants. Early-onset sporadic PD cases were also screened for parkin mutations. The haplotypes associated with the G2019S mutation were determined. The clinical characteristics of patients carrying LRRK2 mutations were detailed. SETTING: French Network for the Study of Parkinson Disease Genetics. Patients Three hundred twenty patients with apparently sporadic PD from Europe. MAIN OUTCOME MEASURES: Results of genetic analyses. RESULTS: We found the G2019S mutation in 6 patients and identified 2 new variants (Y2006H and T2031S) in 1 patient each. Their clinical features were similar to those of typical PD. All G2019S mutation carriers shared a common haplotype. CONCLUSIONS: The G2019S mutation is almost as frequent in sporadic cases (1.9%) as in previously reported familial cases (2.9%) in Europe and occurs in the same common founder. We identified 2 novel variants. Although the phenotype of LRRK2 mutation carriers closely resembles that of typical PD, the age at onset was younger (29 years in 1 patient) than previously described, and 3 patients were improved by deep brain stimulation. SN - 0003-9942 UR - https://www.unboundmedicine.com/medline/citation/17353388/LRRK2_exon_41_mutations_in_sporadic_Parkinson_disease_in_Europeans_ L2 - https://jamanetwork.com/journals/jamaneurology/fullarticle/10.1001/archneur.64.3.425 DB - PRIME DP - Unbound Medicine ER -