SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Impaired cognition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease BEFREE The ECAS-ALS specific appraises the whole spectrum of the highly prevalent cognitive impairments in ALS. 31469297 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease BEFREE Our observations lead to the hypothesis that SOD1 antioxidation reflects tau but not amyloid accumulation, which may lead to pro-oxidant-based neurodegeneration and cognitive dysfunction.<i>Antioxid.Redox Signal.</i> 31, 572-578. 31088292 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease BEFREE It is likely that the inclusion of ALS subjects with cognitive impairment in previous studies resulted in extra-motor WM abnormalities being reported in ALS subjects. 28802959 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease BEFREE We assessed the accuracy of the Brazilian Portuguese version of ALS-CBS Cognitive Section (ALS-CBS-Br) for classifying the cognitive status of Brazilian patients compared to a standard neuropsychological battery, and estimated the prevalence of CD in the Brazilian ALS population. 27534257 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE In our preliminary study the alterations of white matter in DTI were significantly associated with cognitive impairment in patients with ALS. 28591385 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE The incidence rate dropped markedly after 79 years of age, and bulbar onset as well as cognitive impairment were more frequent in ALS cases >75 years. 28220290 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Of the nine cases with C9ORF72 mutation, six had ALS-FTD, two ALS-ECI and one was cognitively normal; one of the five patients with SOD1 mutations and one of the five patients with TARBDP mutations had ALS-Bi. 24769471 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease BEFREE We have suggested that oxidative stress plays an important role in Aβ oligomerization and cognitive impairment using a human amyloid precursor protein (hAPP) transgenic AD mice lacking cytoplasmic superoxide dismutase (hAPP/Sod1-/-). 22790929 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease BEFREE SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis. 19252762 2009
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Here, we examine whether prefrontal cortex neuronal abnormalities and related cognitive impairments are present in presymptomatic G93A Cu/Zn superoxide dismutase mice, a mouse model for familial ALS. 18081837 2008
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE To test whether patients with familial ALS (fALS) have cognitive impairment and whether it is of the same type and degree as observed in sporadic ALS. 17909153 2007
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE Morphologically, this is evident as Bunina bodies, ubiquitin-immunoreactive fibrils or aggregates, neurofilamentous aggregates, mutant copper/zinc superoxide dismutase (SOD1) aggregates in familial ALS variants harboring mutations in SOD1, peripherin-immunoreactive aggregates within spinal motor neurons and as neuroaxonal spheroids, and in an increasingly greater population of patients with ALS with cognitive impairment, both intra- and extraneuronal tau aggregates. 16106213 2005
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease BEFREE In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype. 15789135 2005
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease BEFREE Cognitive dysfunction in ALS may reflect abnormal tau protein metabolism. 14694044 2003