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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.060 Biomarker phenotype 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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.060 Biomarker phenotype BEFREE Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies. 29053777 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.060 AlteredExpression phenotype BEFREE Antiglutamic acid decarboxylase antibody-associated cerebellar ataxia (GAD-Abs CA) is a rare, but increasingly detected, autoimmune neurological disorder characterized by the clinical presence of a cerebellar syndrome concomitant with positive GAD-Abs levels in serum and cerebrospinal fluid (CSF). 28321713 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.060 Biomarker phenotype BEFREE Patients with GAD associated CA present with a progressive pancerebellar syndrome, with a subacute or chronic evolution, along with other neurological manifestations such as stiffness, oculomotor dysfunction, epilepsy, and cognitive dysfunction. 28689294 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.060 Biomarker phenotype BEFREE Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies. 28355320 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.060 Biomarker phenotype LHGDN 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