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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families
Movement Disorders, Volume 22, No. 1, Year 2007
Notification
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Description
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. © 2006 Movement Disorder Society.
Authors & Co-Authors
Ishihara, Lianna
United Kingdom, Cambridge
University of Cambridge
United Kingdom, Cambridge
Cambridge Institute of Public Health
Gibson, Rachel A.
United Kingdom, Brentford
Glaxosmithkline Plc.
Warren, Liling
United States, Philadelphia
Glaxosmithkline, Usa
Amouri, Rim
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Lyons, Kelly E.
United States, Kansas City
University of Kansas Medical Center
Wielinski, Catherine
United States, Minneapolis
Struthers Parkinson's Center
Hunter, Christine B.
United States, Houston
Baylor College of Medicine
Swartz, Jina E.
United Kingdom, Brentford
Glaxosmithkline Plc.
Elango, Ramu
United Kingdom, Brentford
Glaxosmithkline Plc.
Akkari, P. Anthony
United States, Philadelphia
Glaxosmithkline, Usa
Leppert, David
United Kingdom, Brentford
Glaxosmithkline Plc.
Surh, Linda
United Kingdom, Brentford
Glaxosmithkline Plc.
Reeves, Kevin H.
United States, Philadelphia
Glaxosmithkline, Usa
Thomas, Siwan
United Kingdom, Brentford
Glaxosmithkline Plc.
Ragone, Leigh
United States, Philadelphia
Glaxosmithkline, Usa
Hattori, Nobutaka
Japan, Tokyo
Juntendo University
Pahwa, Rajesh
United States, Kansas City
University of Kansas Medical Center
Jankovic, Joseph J.
United States, Houston
Baylor College of Medicine
Nance, Martha A.
United States, Minneapolis
Struthers Parkinson's Center
Freeman, Alan
United States, Atlanta
Emory University
Gouider-Khouja, Neziha
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Kefi, Mounir
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Zouari, Mourad
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Ben Sassi, Samia
United Kingdom, Brentford
Glaxosmithkline Plc.
Yahmed, Samia Ben
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
El Euch-Fayeche, Ghada
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Middleton, Lefkos T.
United Kingdom, Brentford
Glaxosmithkline Plc.
Burn, David J.
United Kingdom, Newcastle
Newcastle General Hospital
Watts, Ray L.
United States, Birmingham
The University of Alabama at Birmingham
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Statistics
Citations: 92
Authors: 30
Affiliations: 12
Identifiers
Doi:
10.1002/mds.21180
ISSN:
08853185
e-ISSN:
15318257
Research Areas
Cancer
Genetics And Genomics
Study Design
Grounded Theory