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• W2938677684 startingPage "35" @default.
• W2938677684 abstract "A number of neurological syndromes have been described in patients with positive serum antibodies (Abs) against the enzyme glutamic acid decarboxylase (GAD), the rate limiting step in the synthesis of GABA (γ-aminobutyric acid). These disorders include: classical stiff-person syndrome and variants, cerebellar ataxia, limbic and extra-limbic encephalitis, nystagmus/oculomotor dysfunction, drug-resistant epilepsy, paraneoplastic stiff-person syndrome and progressive encephalopathy with rigidity and myoclonus (PERM), the latter two are mainly related to amphiphysin and the glycine receptor Abs respectively; but patients may also have positive GAD-Abs. Although observations are consistent with an autoimmune response in these patients and there is evidence of GABAergic dysfunction in some cases; the pathogenic role of GAD-Abs in the nervous system has not been clarified and it is a matter of debate. The diagnosis of these syndromes is based on clinical grounds plus the presence of GAD-Abs in serum and CSF with demonstration of intrathecal secretion. Although some presentations may be negative for GAD-Abs, such as stiff-person syndrome; positive GAD-Abs are required for the diagnosis in patients with cerebellar ataxia, encephalitis, and epilepsy. Immunotherapy is required for most patients. Intravenous immunoglobulins, oral or IV steroids and plasma exchange are considered the first line options, aimed to induce remission, but chronic immunosuppression is usually required. Symptomatic therapy should also be provided, aimed to control muscle spasms, seizures, delirium, etc. Prognosis varies among patients; but it is considered intermediate between that of patients with neurological syndromes associated with neural Abs against membrane antigens and those with onconeural Abs." @default.
• W2938677684 created "2019-04-25" @default.
• W2938677684 creator A5081961369 @default.
• W2938677684 date "2019-07-01" @default.
• W2938677684 modified "2023-10-16" @default.
• W2938677684 title "The neurological syndromes associated with glutamic acid decarboxylase antibodies" @default.
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