GAD2, glutamate decarboxylase 2, 2572

N. diseases: 173; N. variants: 7
Disease: Stiff-Person Syndrome ×
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 		0.100 Biomarker disease BEFREE We retrospectively analyzed the clinical data and outcomes of ten patients with the clinical diagnosis of anti-GAD65 positive SPS in which TPE was employed to improve symptoms refractory to conventional treatment during an eight-year period. 30952585 2019
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE Since GAD65 is intracellularly located and associated with type 1 diabetes mellitus and different clinical neurological phenotypes such as CA, stiff-person syndrome, and epilepsy, some researchers have argued that anti-GAD65 Abs have no pathogenic roles. 30343467 2019
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE Stiff person syndrome (SPS) is a rare and challenging neuromuscular junction disorder with typical musculoskeletal manifestations associated with anti-GAD65 antibodies, extra rheumatological manifestations, including neuropsychiatric symptoms and severe dysautonomic troubles. 31789305 2019
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE We present a case of a 65-year-old African American male, immunosuppressed on Tacrolimus, who initially presented with cerebellar ataxia and rapidly developed Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) with positive anti-glutamic acid decarboxylase (GAD65) antibodies, no underlying malignancy, and normal neuroimaging. 31015081 2019
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE In people with stiff person syndrome preferred binding to the full-length GAD65 isoform over the N-terminal truncated molecule was observed. 30264481 2019
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE Stiff person syndrome with Anti-GAD65 antibodies within the national veterans affairs health administration. 30192027 2018
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE SPS diagnosis was supported by elevated anti-glutamic acid decarboxylase (GAD65) antibodies in each patient. 28017232 2017
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE Although immunization with GAD65 did not produce any behavioral abnormality in the mice, the induction of neuronal-surface antibodies and the trend towards loss of GABAergic neurons in the brainstem, supports a role for humoral autoimmunity in the pathogenesis of SPS and suggests that the mechanisms may involve spread to antigens expressed on the surface of these neurons. 24058450 2013
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE One explanation for these data is the differences in epitope engagement between the anti-GAD reactivity in SPS and T1D: in both diseases, anti-GAD antibody reactivity is predominantly to a conformational epitope region in the PLP- and C-terminal domains of the 65 kDa isoform but, additionally in SPS, there is reactivity to conformational epitope(s) on GAD67, and short linear epitopes in the C-terminal region and at the N-terminus of GAD65. 21680149 2011
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE This result is interesting because auto-antibodies to GAD67 and the more widely studied GAD65 homologue encoded by the GAD2 gene, are described in patients with Stiff-Person Syndrome (SPS), epilepsy, cerebellar ataxia and Batten disease. 15571623 2004
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE The authors report familial SPS associated with GAD65 antibody. 14610143 2003
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease LHGDN T-cell reactivity to glutamic acid decarboxylase in stiff-man syndrome and cerebellar ataxia associated with polyendocrine autoimmunity. 12197888 2002
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 GeneticVariation disease BEFREE In study A we tested sera from 52 normal subjects, 25 newly diagnosed type 1 diabetics and 3 stiff man syndrome (SMS) subjects detecting GAD65 autoantibodies in 72% of IDDM and 100% of SMS patients. 9368637 1997
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.100 Biomarker disease BEFREE Thus, destruction of pancreatic beta cells, which results in insulin-dependent diabetes mellitus (IDDM), and impairment of GABA-ergic synaptic transmission in Stiff-Man syndrome (SMS) are both characterized by circulating autoantibodies to GAD65. 7519242 1994