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Published 2 February 2009
Cite this as: BMJ Case Reports 2009 [doi:10.1136/bcr.09.2008.0977]
Copyright © 2009 by the BMJ Publishing Group Ltd.

Findings that shed new light on the possible pathogenesis of a disease or an adverse effect

Epilepsy and cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies

S Vulliemoz, G Vanini, A Truffert, C Chizzolini, M Seeck

University Hospital, rue Micheli-du Crest 24, Geneva, 1211, Switzerland

Correspondence to:
margitta.seeck{at}hcuge.ch

SUMMARY

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 {gamma}hydroxybutyric acidergic agents may be highly effective.


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