SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
Disease: Lewy Body Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 CausalMutation disease CLINVAR
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 GeneticVariation disease BEFREE This study adds further support to the idea that these particular mutation in the alpha-synuclein gene are a rare case of PD and now, as we have shown here, also of DLB. 9875730 1998
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE In addition, alpha-synuclein is an abundant component of Lewy bodies in sporadic Parkinson's disease and diffuse Lewy body disease. 10722726 2000
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 GeneticVariation disease BEFREE The presynaptic protein alpha-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson's disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer's disease. alpha-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the alpha-synuclein gene are genetically linked to rare familial forms of Parkinson's disease. 10934251 2000
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE NACP/alpha-synuclein and tau constitute two distinctive subsets of filaments in the same neuronal inclusions in brains from a family of parkinsonism and dementia with Lewy bodies: double-immunolabeling fluorescence and electron microscopic studies. 10963357 2000
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Alpha-synuclein protein is present in the pathologic lesions of familial and sporadic PD, and diffuse Lewy body disease, indicating an important pathogenic role for alpha-synuclein. 10967135 2000
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE alpha-Synuclein has been identified as a component of Lewy bodies in Parkinson's disease and diffuse Lewy body disease, and glial cytoplasmic inclusions (GCIs) in multiple system atrophy (MSA). 11279280 2001
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Great variability in alpha-synuclein mRNA levels among patients indicates that Lewy body disease may be a heterogeneous disorder with regard to alpha-synuclein involvement. 11483242 2001
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Alpha-synuclein in familial Alzheimer disease: epitope mapping parallels dementia with Lewy bodies and Parkinson disease. 11708989 2001
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 AlteredExpression disease BEFREE Further investigation of alpha-synuclein and its relationship to pathological conditions promoting Lewy body formation in AD, PD, and DLB may yield further insight into pathogenesis of these diseases. 11816795 2001
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 AlteredExpression disease BEFREE Taken together, these studies support the contention that human alpha-synuclein expression in transgenic mice might mimic some neuropathological alterations observed in Lewy body disease and other synucleopathies, such as multiple system atrophy. 12111846 2002
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Alpha-synuclein is a major component of Lewy bodies (LBs) in the substantia nigra and cortex in Parkinson's disease (PD) and dementia with Lewy bodies (DLB), and in glial inclusions in multiple systems atrophy (MSA). 12498958 2003
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE In Parkinson's disease (PD) and dementia with Lewy bodies (DLB), alpha-synuclein (alpha S) accumulates in insoluble inclusions. 12597857 2003
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 GeneticVariation disease BEFREE Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75]. 12719631 2003
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Accumulation and toxic conversion to protofibrils of alpha-synuclein has been associated with neurological disorders such as Parkinson's disease (PD), Lewy body disease, multiple system atrophy, neurodegeneration with brain iron accumulation type 1, and Alzheimer's disease. 12846986 2003
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE In contrast, in PD and DLB cases there is abnormal accumulation of alpha-synuclein in neuronal cell bodies, axons, and synapses. 14528050 2003
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 GeneticVariation disease BEFREE Our data show that, in addition to the previously described hereditary alpha-synucleinopathies, dementia with Lewy bodies is related to mutation of alpha-synuclein. 14755719 2004
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 GeneticVariation disease UNIPROT The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719 2004
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE Convergent biochemical and genetic evidence suggests that the formation of alpha-synuclein (alpha-syn) protein deposits is an important and, probably, seminal step in the development of Parkinson's disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA). 15180968 2004
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease BEFREE The etiology of this atypical form of DLB is unknown, since there was no family history and since sequencing of the exonic regions of alpha-Synuclein, beta-Synuclein, Synphilin-1, Parkin, Ubiquitin C-terminal hydrolase L1 and Neurofilament-M failed to reveal a pathogenic mutation. 15193026 2004
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 Biomarker disease LHGDN Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease. 15207266 2004
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 GeneticVariation disease LHGDN SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. 15304594 2004
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.800 GeneticVariation disease BEFREE To determine whether mutations in the genes for alpha-synuclein or beta-synuclein are responsible for dementia with Lewy bodies (DLB), a disorder closely related to Parkinson disease (PD). 15365127 2004