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Mutations in the leucine- rich repeat kinase 2 (L- RRK2) gene cause some forms of autosomal dominant Parkinson’ s disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson’ s disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5% ) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson’ s disease. Thus, our results suggest that a single LRRK2 mutation causes Parkinson’ s disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson’ s disease.
Mutations in the leucine-rich repeat kinase 2 (L- RRK2) gene cause some forms of autosomal dominant Parkinson’s disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson’s disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson’s disease. Thus, our results suggest suggest that a single LRRK2 mutation causes Parkinson’s disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson’s disease.