Genetics of Parkinson disease.

摘要: During the past decade five genes have been identified that are important in autosomal dominant and recessive forms of Parkinson disease. The identification these has increased our understanding likely pathogenic mechanisms resulting However, mutations contribute to disease fewer than 5% all cases Thus, researchers continued search for may influence susceptibility. Molecular diagnostic testing is currently available four mutated Evidence reduced penetrance, possible effects haploinsufficiency, nondisease causing polymorphisms within several made genetic counseling challenging. Current recommendations limit molecular only those individuals who symptomatic. Furthermore, because treatment unaltered by presence or absence genes, restraint recommended when considering value screening a clinical setting.