SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
Disease: Parkinson Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease MGD
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. 9197268 1997
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE There may be common pathogenetic mechanisms involved in alpha-synuclein mutations in PD and beta-amyloid and presenilin gene mutations in Alzheimer's disease. 9300660 1997
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Identification of Spanish familial Parkinson's disease and screening for the Ala53Thr mutation of the alpha-synuclein gene in early onset patients. 9389595 1997
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease BEFREE We also report a lack of evidence to support linkage disequilibrium between PSP and the SNCA candidate Parkinson's disease gene on chromosome 4q21-q23. 9443491 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Failure to find the alpha-synuclein gene missense mutation (G209A) in 100 patients with younger onset Parkinson's disease. 9484385 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease BEFREE We discuss these findings with respect to both the epidemiology of Parkinson's disease and the possibility that NACP is not the chromosome 4 locus for disease. 9506559 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Using reverse transcribed-polymerase chain reaction (RT-PCR) technique, we sequenced the entire coding region of the alpha-synuclein gene using brain tissue from 24 pathologically proven Parkinson's disease cases. 9566408 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease BEFREE Alpha-synuclein has been implicated in the pathogenesis of Parkinson's disease. 9601701 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE This contig allowed us to precisely determine the location of 18 transcripts within the D4S2460-D4S2986 interval, including the alpha-synuclein gene found to be mutated in some families with Parkinson's disease. 9628579 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE An autosomal dominant syndrome with many similarities to sporadic PD has been mapped to 4q21-22 in a large Italian pedigree and has been found to be due to mutation of the alpha-synuclein gene. 9634534 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the alpha-synuclein gene in an autosomal dominant Parkinson's disease kindred. 9708553 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE This gene is composed of five exons, which encode a 127 amino acid protein that is highly homologous to alpha-synuclein, which is mutated in some Parkinson's disease families, and to beta-synuclein. 9737786 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Exploration of the possibility that the same mutation of the alpha-synuclein gene as that in familial PD (Ala53Thr) may also confer susceptibility to sporadic PD, DLB, and AD revealed the mutation in none of the samples of 329 cases and 230 controls examined, suggesting that this mutation is not involved in these neurological diseases. 9743579 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Mutation analysis of the alpha-synuclein in four unrelated families with PD revealed a missense mutation segregating with the illness. 9749575 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE The finding of a mutation in the alpha-synuclein gene in a rare autosomal dominant form of idiopathic Parkinson's disease (IPD), has prompted increased interest in identifying genes that account for the more common sporadic form. 9776460 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease BEFREE In the past few years, the genetic contribution to Parkinson's disease (PD) has gained major attention and has resulted in the identification of the first mutant gene, called alpha-synuclein, involved in the pathogenesis of autosomal-dominant PD. alpha-Synuclein is a major component of Lewy bodies, which are a neuropathological feature of PD. 9793932 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Mutation analysis of the alpha-synuclein in four unrelated families with PD revealed a missense mutation segregating with the illness. 9808333 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Special interest arises from mutations in the alpha-synuclein gene, which appears to be responsible for autosomal dominant PD in several kindreds. 9809770 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease BEFREE Missense mutations in the alpha-synuclein gene cause familial Parkinson's disease (PD), and alpha-synuclein is a major component of Lewy bodies (LBs) in sporadic PD, dementia with LBs (DLB), and the LB variant of Alzheimer's disease (AD). 9811326 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease BEFREE Over the past year, mutations in the genes for tau and alpha-synuclein have been identified as the genetic causes of some familial forms of frontotemporal dementia and Parkinson's disease, respectively. 9811617 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease BEFREE Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease. 9855543 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 Biomarker disease BEFREE The presence of alpha synuclein in Lewy bodies of sporadic PD patients suggests a central role for alpha synuclein in the pathogenesis of PD. 9857974 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Recently, mutations in the alpha-syn gene have been reported in families susceptible to an inherited form of Parkinson's disease. 9862427 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 GeneticVariation disease BEFREE Recently, mutations in the alpha-syn gene have been reported in families susceptible to an inherited form of Parkinson's disease. 9862428 1998