SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Papillon-Lefevre Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.050 Biomarker disease BEFREE In PLS, disease burden in the motor cortex is more medial than in ALS consistent with its lower limb symptom-predominance. 31325016 2019
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.050 Biomarker disease BEFREE ALS and PLS patients exhibit considerable brainstem atrophy compared to both disease- and healthy controls. 31711033 2019
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.050 Biomarker disease BEFREE TMS revealed that resting motor threshold (RMT) was significantly higher in PLS (75.5 ± 6.2) compared ALS-FTD (50.1 ± 7.2, p < 0.001) and ALS (62.3 ± 12.6, p = 0.046). 29868980 2018
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.050 Biomarker disease BEFREE These findings suggest that PLS is part of the FTD-MND continuum and would favour viewing it as a subtype of ALS. 28745069 2017
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.050 Biomarker disease BEFREE These observations provide further evidence that PLS can be linked pathophysiologically to ALS. 15911810 2005