LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies.

Abstract excerpt

Pathogenic mutations in leucine-rich repeat kinase 2 (LRRK2) cause autosomal-dominant familial Parkinson's disease (PD). We performed clinical, imaging, and molecular functional studies in one family with the R1441H and six families with the G2385R variants of Lrrk2. To determine the contribution of these variants to familial PD in Taiwanese, we screened 32 Taiwanese or ethnic Chinese patients with familial PD...

Topics

• DNA Mutational Analysis
• Diagnostic Imaging
• Family Health
• Gene Frequency
• Humans
• Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
• Mutation, Missense
• Parkinson Disease
• Phenotype
• Polymorphism, Genetic