Tags

Type your tag names separated by a space and hit enter

Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families.
Mov Disord. 2007 Jan; 22(1):55-61.MD

Abstract

Mutations in the leucine-rich repeat kinase-2 gene (LRRK2) are responsible for some forms of familial as well as sporadic Parkinson's disease (PD). The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G > A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation. Standardized case report forms were used for clinical and demographic data collection. We investigated the frequency of the most common substitution of LRRK2 (G2019S, 6055G>A) and its impact on epidemiological and phenotypic features. The frequency of mutations in Tunisian families was 42% (38/91) and in U.S. families 2.6% (1/39), with the unique opportunity to compare homozygous (n = 23) and heterozygous (n = 109) Tunisian carriers of G2019S substitutions. Individuals with G2019S substitutions had an older age at onset but few other differences compared with families negative for the substitution. Patients with LRRK2 mutations had typical clinical features of PD. Comparisons between individuals with heterozygous and homozygous LRRK2 mutations suggested that gene dosage was not correlated with phenotypic differences; however, the estimated penetrance was greater in homozygotes across all age groups.

Authors+Show Affiliations

Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom. lsi20@medschl.com.ac.ukNo 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 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

17115391

Citation

Ishihara, Lianna, et al. "Screening for Lrrk2 G2019S and Clinical Comparison of Tunisian and North American Caucasian Parkinson's Disease Families." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 22, no. 1, 2007, pp. 55-61.
Ishihara L, Gibson RA, Warren L, et al. Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families. Mov Disord. 2007;22(1):55-61.
Ishihara, L., Gibson, R. A., Warren, L., Amouri, R., Lyons, K., Wielinski, C., Hunter, C., Swartz, J. E., Elango, R., Akkari, P. A., Leppert, D., Surh, L., Reeves, K. H., Thomas, S., Ragone, L., Hattori, N., Pahwa, R., Jankovic, J., Nance, M., ... Hentati, F. (2007). Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families. Movement Disorders : Official Journal of the Movement Disorder Society, 22(1), 55-61.
Ishihara L, et al. Screening for Lrrk2 G2019S and Clinical Comparison of Tunisian and North American Caucasian Parkinson's Disease Families. Mov Disord. 2007;22(1):55-61. PubMed PMID: 17115391.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families. AU - Ishihara,Lianna, AU - Gibson,Rachel A, AU - Warren,Liling, AU - Amouri,Rim, AU - Lyons,Kelly, AU - Wielinski,Catherine, AU - Hunter,Christine, AU - Swartz,Jina E, AU - Elango,Ramu, AU - Akkari,P Anthony, AU - Leppert,David, AU - Surh,Linda, AU - Reeves,Kevin H, AU - Thomas,Siwan, AU - Ragone,Leigh, AU - Hattori,Nobutaka, AU - Pahwa,Rajesh, AU - Jankovic,Joseph, AU - Nance,Martha, AU - Freeman,Alan, AU - Gouider-Khouja,Neziha, AU - Kefi,Mounir, AU - Zouari,Mourad, AU - Ben Sassi,Samia, AU - Ben Yahmed,Samia, AU - El Euch-Fayeche,Ghada, AU - Middleton,Lefkos, AU - Burn,David J, AU - Watts,Ray L, AU - Hentati,Faycal, PY - 2006/11/23/pubmed PY - 2007/4/6/medline PY - 2006/11/23/entrez SP - 55 EP - 61 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 22 IS - 1 N2 - Mutations in the leucine-rich repeat kinase-2 gene (LRRK2) are responsible for some forms of familial as well as sporadic Parkinson's disease (PD). The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G > A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation. Standardized case report forms were used for clinical and demographic data collection. We investigated the frequency of the most common substitution of LRRK2 (G2019S, 6055G>A) and its impact on epidemiological and phenotypic features. The frequency of mutations in Tunisian families was 42% (38/91) and in U.S. families 2.6% (1/39), with the unique opportunity to compare homozygous (n = 23) and heterozygous (n = 109) Tunisian carriers of G2019S substitutions. Individuals with G2019S substitutions had an older age at onset but few other differences compared with families negative for the substitution. Patients with LRRK2 mutations had typical clinical features of PD. Comparisons between individuals with heterozygous and homozygous LRRK2 mutations suggested that gene dosage was not correlated with phenotypic differences; however, the estimated penetrance was greater in homozygotes across all age groups. SN - 0885-3185 UR - https://www.unboundmedicine.com/medline/citation/17115391/Screening_for_Lrrk2_G2019S_and_clinical_comparison_of_Tunisian_and_North_American_Caucasian_Parkinson's_disease_families_ L2 - https://doi.org/10.1002/mds.21180 DB - PRIME DP - Unbound Medicine ER -