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Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.
Neurodegener Dis. 2007; 4(2-3):195-8.ND

Abstract

BACKGROUND

Mutations in the LRRK2 gene, the most frequent of which is the G2019S mutation in exon 41, cause familial and sporadic Parkinson's disease (PD) with reduced penetrance.

OBJECTIVES

To assess the frequency of the LRRK2 G2019S mutation in families thought to have autosomal recessive PD (siblings but not their parents were affected) and to determine the clinical features of LRRK2 mutation carriers.

METHODS

We sequenced both strands of exon 41 of the LRKK2 gene in 90 index cases from French and North African families in which PD might have been inherited as a recessive trait. Patients with mutations underwent detailed clinical evaluations.

RESULTS

We found heterozygous G2019S mutations in 1 Algerian and 1 French family (overall relative frequency = 2.2%). Four LRRK2-positive patients had typical PD, but their Mini Mental State Examination (MMSE) scores were lower than those of patients without this mutation.

CONCLUSION

The LRRK2 G2019S mutation is as frequent in families with possible autosomal recessive PD (2.2%) as in the sporadic cases published elsewhere (1.9%). The clinical features in the LRRK2-positive patients were those of typical PD, except for lower MMSE scores.

Authors+Show Affiliations

INSERM, UMR 679, Neurology and Experimental Therapeutics, Hôpital de la Pitié-Salpêtrière, AP-HP, Faculté de Médecine, Université Pierre et Marie Curie-Paris 6, Paris, France.No 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, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17596714

Citation

Lesage, Suzanne, et al. "Frequency of the LRRK2 G2019S Mutation in Siblings With Parkinson's Disease." Neuro-degenerative Diseases, vol. 4, no. 2-3, 2007, pp. 195-8.
Lesage S, Leclere L, Lohmann E, et al. Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease. Neurodegener Dis. 2007;4(2-3):195-8.
Lesage, S., Leclere, L., Lohmann, E., Borg, M., Ruberg, M., Dürr, A., & Brice, A. (2007). Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease. Neuro-degenerative Diseases, 4(2-3), 195-8.
Lesage S, et al. Frequency of the LRRK2 G2019S Mutation in Siblings With Parkinson's Disease. Neurodegener Dis. 2007;4(2-3):195-8. PubMed PMID: 17596714.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease. AU - Lesage,Suzanne, AU - Leclere,Laurence, AU - Lohmann,Ebba, AU - Borg,Michel, AU - Ruberg,Merle, AU - Dürr,Alexandra, AU - Brice,Alexis, AU - ,, PY - 2007/6/29/pubmed PY - 2007/10/13/medline PY - 2007/6/29/entrez SP - 195 EP - 8 JF - Neuro-degenerative diseases JO - Neurodegener Dis VL - 4 IS - 2-3 N2 - BACKGROUND: Mutations in the LRRK2 gene, the most frequent of which is the G2019S mutation in exon 41, cause familial and sporadic Parkinson's disease (PD) with reduced penetrance. OBJECTIVES: To assess the frequency of the LRRK2 G2019S mutation in families thought to have autosomal recessive PD (siblings but not their parents were affected) and to determine the clinical features of LRRK2 mutation carriers. METHODS: We sequenced both strands of exon 41 of the LRKK2 gene in 90 index cases from French and North African families in which PD might have been inherited as a recessive trait. Patients with mutations underwent detailed clinical evaluations. RESULTS: We found heterozygous G2019S mutations in 1 Algerian and 1 French family (overall relative frequency = 2.2%). Four LRRK2-positive patients had typical PD, but their Mini Mental State Examination (MMSE) scores were lower than those of patients without this mutation. CONCLUSION: The LRRK2 G2019S mutation is as frequent in families with possible autosomal recessive PD (2.2%) as in the sporadic cases published elsewhere (1.9%). The clinical features in the LRRK2-positive patients were those of typical PD, except for lower MMSE scores. SN - 1660-2854 UR - https://www.unboundmedicine.com/medline/citation/17596714/Frequency_of_the_LRRK2_G2019S_mutation_in_siblings_with_Parkinson's_disease_ L2 - https://www.karger.com?DOI=10.1159/000101844 DB - PRIME DP - Unbound Medicine ER -