Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
| Autor: | Tiago Silva Aguiar, Andrea Fragoso, Carolina Rouanet de Albuquerque, Patrícia de Fátima Teixeira, Marcus Vinícius Leitão de Souza, Lenita Zajdenverg, Soniza Vieira Alves-Leon, Melanie Rodacki, Marco Antônio Sales Dantas de Lima |
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| Jazyk: | angličtina |
| Předmět: | |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 75, Iss 3, Pp 142-146 |
| Druh dokumentu: | article |
| ISSN: | 1678-4227 0004-282x |
| DOI: | 10.1590/0004-282x20170011 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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