SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE A significantly higher α-synuclein burden was observed in the substantia nigra (P = 0.006), ventral tegmental area (P = 0.011) and nucleus accumbens (P = 0.031) in LBD patients with depression. 30582885 2019
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE Soluble oligomeric α-synuclein accumulation in cytoplasm is believed to modify neuronal activities and intraneural Ca<sup>2+</sup> dynamics, which augment the metabolic burden in central neurons vulnerable to LBD, although this hypothesis remains to be fully tested. 31685859 2019
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE The protein α-synuclein (αsyn) forms pathologic aggregates in a number of neurodegenerative diseases including Lewy body dementia (LBD) and Parkinson's disease (PD). 31477175 2019
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE We investigated histological alterations in lysosomes and autophagosomes in the substantia nigra (SN) and cingulate gyrus (CG) in 34 patients with LBD employing antibodies against phosphorylated α-synuclein and lysosomal (lysosomal associated membrane proteins 1 and 2 (LAMP-1 and LAMP-2), cathepsin D (CTSD)) and autophagosomal (microtubule-associated protein light chain 3α (LC3A)) proteins. 29748975 2018
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE Beta-synuclein counteracts aggregation of alpha-synuclein in vitro and in animal models, however it is not clear whether this effect occurs in human Lewy body dementia (LBD) diseases. 29278715 2018
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE Lewy body disease (LBD) is characterized by accumulation of aggregated α-synuclein in the central nervous system as eosinophilic cytoplasmic inclusions called Lewy bodies. 29909202 2018
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 GeneticVariation disease BEFREE While all four dementia types appear to involve genes associated with tau-pathology and neuroinflammation only LBD, AD and VaD appear to involve amyloid genes while LBD and FTLD share alpha synuclein genes. 25567624 2015
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE In this article, we review a rapidly growing body of literature on possible mechanisms by which extracellular α-synuclein contributes to LBD pathology, and discuss therapeutic approaches to target this form of α-synuclein to halt disease progression. 24468877 2014
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 AlteredExpression disease BEFREE In the human hippocampus, levels of endogenous α-synuclein were increased in LBD, and the numbers of SOX2-positive cells were decreased. 23175842 2012
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 GeneticVariation disease BEFREE The overall methylation levels in the promoter and intron 1 of α-synuclein are rather low in controls and-in contrast to previously reported findings-are not significantly different from LBD. 22042430 2011
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE Accumulation of the synaptic protein alpha-synuclein (alpha-syn) is a hallmark of Parkinson's disease (PD) and Lewy body disease (LBD), a heterogeneous group of disorders with dementia and parkinsonism, where Alzheimer's disease and PD interact. 19864570 2009
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE While progressive accumulation of amyloid beta protein (Abeta) oligomers has been identified as one of the central toxic events in AD, accumulation of alpha-synuclein (alpha-syn) resulting in the formation of oligomers and protofibrils has been linked to PD and Lewy body Disease (LBD). 18769546 2008
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 Biomarker disease BEFREE Abnormal folding of alpha-synuclein (alpha-syn) is thought to lead to neurodegeneration and the characteristic symptoms of Lewy body disease (LBD). 15953415 2005
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.100 GeneticVariation disease BEFREE We examined a large collection of pathologically confirmed LBD cases and found no evidence for multiplication of the alpha-synuclein gene, suggesting that this mechanism is not a common cause of LBD. 15655258 2004