Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies

ABSTRACT The enzyme glutamic acid decarboxylase (GAD), present in GABAergic neurons and in pancreatic beta cells, catalyzes the conversion of gamma-aminobutyric acid (GABA). The cerebellum is highly susceptible to immune-mediated mechanisms, with the potentially treatable autoimmune cerebellar ataxi...

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Published in:Arquivos de neuro-psiquiatria 2017-03, Vol.75 (3), p.142-146
Main Authors: Aguiar, Tiago Silva, Fragoso, Andrea, Albuquerque, Carolina Rouanet de, Teixeira, Patrícia de Fátima, Souza, Marcus Vinícius Leitão de, Zajdenverg, Lenita, Alves-Leon, Soniza Vieira, Rodacki, Melanie, Lima, Marco Antçnio Sales Dantas de
Format: Article
Language:English
Subjects:
Adult
Autoantibodies - blood
autoimmunity
cerebellar ataxia
Cerebellar Ataxia - complications
Cerebellar Ataxia - diagnosis
Cerebellar Ataxia - drug therapy
Cerebellar Ataxia - immunology
diabetes mellitus
Female
Glutamate Decarboxylase - blood
Glutamate Decarboxylase - immunology
Humans
Immunoglobulins, Intravenous - therapeutic use
Magnetic Resonance Imaging
Male
Middle Aged
NEUROSCIENCES
PSYCHIATRY
Retrospective Studies
Treatment Outcome
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Summary:ABSTRACT The enzyme glutamic acid decarboxylase (GAD), present in GABAergic neurons and in pancreatic beta cells, catalyzes the conversion of gamma-aminobutyric acid (GABA). The cerebellum is highly susceptible to immune-mediated mechanisms, with the potentially treatable autoimmune cerebellar ataxia associated with the GAD antibody (CA-GAD-ab) being a rare, albeit increasingly detected condition. Few cases of CA-GAD-ab have been described. Methods This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2. Conclusion CA-GAD-ab is rare and its clinical presentation may hamper diagnosis. Clinicians should be able to recognize this potentially treatable autoimmune cerebellar ataxia.
ISSN:0004-282X
1678-4227
1678-4227
0004-282X
DOI:10.1590/0004-282X20170011