PubMed:15680455 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"15680455-2#47#58#geners34637584","span":{"begin":252,"end":263},"obj":"geners34637584"},{"id":"15680455-2#72#91#diseaseC0030567","span":{"begin":277,"end":296},"obj":"diseaseC0030567"}],"relations":[{"id":"47#58#geners3463758472#91#diseaseC0030567","pred":"associated_with","subj":"15680455-2#47#58#geners34637584","obj":"15680455-2#72#91#diseaseC0030567"}],"text":"Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.\nMutations in the leucine-rich repeat kinase 2 (LRRK2) 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."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15680455-0#38#43#gene120892","span":{"begin":38,"end":43},"obj":"gene120892"},{"id":"15680455-0#65#84#diseaseC0030567","span":{"begin":65,"end":84},"obj":"diseaseC0030567"},{"id":"15680455-1#17#45#gene120892","span":{"begin":103,"end":131},"obj":"gene120892"},{"id":"15680455-1#47#52#gene120892","span":{"begin":133,"end":138},"obj":"gene120892"},{"id":"15680455-1#79#117#diseaseC3489791","span":{"begin":165,"end":203},"obj":"diseaseC3489791"}],"relations":[{"id":"38#43#gene12089265#84#diseaseC0030567","pred":"associated_with","subj":"15680455-0#38#43#gene120892","obj":"15680455-0#65#84#diseaseC0030567"},{"id":"17#45#gene12089279#117#diseaseC3489791","pred":"associated_with","subj":"15680455-1#17#45#gene120892","obj":"15680455-1#79#117#diseaseC3489791"},{"id":"47#52#gene12089279#117#diseaseC3489791","pred":"associated_with","subj":"15680455-1#47#52#gene120892","obj":"15680455-1#79#117#diseaseC3489791"}],"text":"Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.\nMutations in the leucine-rich repeat kinase 2 (LRRK2) 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."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":602,"end":607},"obj":"gene:120892"},{"id":"T1","span":{"begin":670,"end":686},"obj":"disease:C0277558"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.\nMutations in the leucine-rich repeat kinase 2 (LRRK2) 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."}