Anti-glutamic acid decarboxylase (GAD) antibodies are described in stiff-person syndrome and also in other neurological syndromes, including cerebellar ataxia and epilepsy. This paper reports the case of a patient who had chronic focal epilepsy, upbeat nystagmus and cerebellar ataxia, associated with a polyautoimmune response including anti-GAD antibodies. Both gait and nystagmus improved markedly after immunosuppressive treatment with corticosteroids and azathioprine. After the introduction of benzodiazepines, previously refractory seizures were completely controlled. Anti-GAD antibodies should be actively sought out in pharmacoresistant epilepsy, particularly if other neurological abnormalities are present. Combined treatment with immunosuppressants and γhydroxybutyric acidergic agents may be highly effective.
- CAPA, cerebellar ataxia with polyendocrine autoimmunity
- GABA, γhydroxybutyric acid
- GAD, glutamic acid decarboxylase
- GAD-Ab, autoantibodies against GAD
- IDDM, insulin-dependent diabetes mellitus
- MRI, magnetic resonance imaging
- PET, positron emission tomography
- SPS, stiff-person syndrome
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Funding: This study was supported by SNF grants IB74B0-111086, 3200B0-104146, 3200-068105 and 3200-113766.
Competing interests: None declared.
Informed consent was obtained for publication of the patient’s details described in this report.
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