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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
arts and humanities
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations
Archives of Neurology, Volume 63, No. 9, Year 2006
Notification
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Description
Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK2 6055G>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There were no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect. ©2006 American Medical Association. All rights reserved.
Authors & Co-Authors
Ishihara, Lianna
United Kingdom, Cambridge
University of Cambridge
Warren, Liling
United Kingdom, Brentford
Glaxosmithkline Plc.
Gibson, Rachel A.
United Kingdom, Brentford
Glaxosmithkline Plc.
Amouri, Rim
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Lesage, Suzanne
France, Paris
Inserm
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Dürr, Alexandra
France, Paris
Inserm
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Wszołek, Zbigniew K.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Uitti, Ryan J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Nichols, William C.
United States, Cincinnati
Cincinnati Children's Hospital Medical Center
Griffith, Alida F.
United States, Kirtland
Evergreen Hospital Medical Center
Hattori, Nobutaka
Japan, Tokyo
Juntendo University
Leppert, David
United Kingdom, Brentford
Glaxosmithkline Plc.
Watts, Ray L.
United States, Birmingham
The University of Alabama at Birmingham
Zabetian, Cyrus P.
United States, Seattle
University of Washington School of Medicine
United States, Seattle
Va Puget Sound Health Care System
Foroud, Tatiana M.
United States, Indianapolis
Indiana University-purdue University Indianapolis
Farrer, Matthew J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Brice, Alexis
France, Paris
Inserm
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Middleton, Lefkos T.
United Kingdom, Brentford
Glaxosmithkline Plc.
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Statistics
Citations: 100
Authors: 20
Affiliations: 15
Identifiers
Doi:
10.1001/archneur.63.9.1250
ISSN:
00039942
e-ISSN:
15383687
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study