Article
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Archives of neurology - 1 Sept 2006
Ishihara Lianna, Warren Liling, Gibson Rachel, Amouri Rim, Lesage Suzanne, Dürr Alexandra, Tazir Meriem, Wszolek Zbigniew K, Uitti Ryan J, Nichols William C, Griffith Alida, Hattori Nobutaka, Leppert David, Watts Ray, Zabetian Cyrus P, Foroud Tatiana M, Farrer Matthew J, Brice Alexis, Middleton Lefkos, Hentati Faycal
Abstract excerpt
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:...
Topics
- Aged
- DNA Mutational Analysis
- Family Health
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Glycine
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2