Mutations in the leucine- rich repeat kinase 2 (LRRK2)- gene have been shown to cause autosomal dominant Parkinson’ s disease. Few mutations in this gene have been identified. We investigated the frequency of a commo...Mutations in the leucine- rich repeat kinase 2 (LRRK2)- gene have been shown to cause autosomal dominant Parkinson’ s disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510 g→ A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson’ s disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1.6% ) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson’ s disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson’ s disease.展开更多
文摘Mutations in the leucine- rich repeat kinase 2 (LRRK2)- gene have been shown to cause autosomal dominant Parkinson’ s disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510 g→ A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson’ s disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1.6% ) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson’ s disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson’ s disease.
