GAD1, glutamate decarboxylase 1, 2571

N. diseases: 245; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome
0.040 Biomarker disease BEFREE As there are only a few cases in the literature similar to this one, highlighting the successful treatment of anti-GAD ab cerebellar ataxia and SPS with dual therapy (steroids followed by IVIG) is important. 31410334 2019
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome
0.040 Biomarker disease BEFREE Another explanation for disease expressions in SPS includes ready access of anti-GAD to antigen sites due to immune responsiveness within the CNS itself according to intrathecal anti-GAD-specific B cells and autoantibody. 21680149 2011
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome
0.040 Biomarker disease BEFREE Further investigation seems merited of the possibility that variation in the GAD1 sequence, potentially affecting glutamate/GABA ratios, may underlie this form of spastic CP, given the presence of anti-GAD antibodies in SPS and the recognised excitotoxicity of glutamate in various contexts. 15571623 2004
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome
0.040 Biomarker disease LHGDN Further investigation seems merited of the possibility that variation in the GAD1 sequence, potentially affecting glutamate/GABA ratios, may underlie this form of spastic CP, given the presence of anti-GAD antibodies in SPS and the recognised excitotoxicity of glutamate in various contexts. 15571623 2004
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome
0.040 Biomarker disease BEFREE In 20 anti-GAD-positive patients with SPS (six men, 14 women), screened among 38 referred patients, the authors assessed symptoms and signs, degree of disability, associated conditions, and immunogenetic markers. 11094109 2000