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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2017; 75(03): 142-146
DOI: 10.1590/0004-282X20170011
ARTICLE

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

Características clínicas de pacientes com ataxia cerebelar associada a anticorpos anti-GAD
Tiago Silva Aguiar
1   Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Neurologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil;
,
Andrea Fragoso
2   Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Nutrologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil;
,
Carolina Rouanet de Albuquerque
1   Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Neurologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil;
,
Patrícia de Fátima Teixeira
3   Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Endocrinologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil;
,
Marcus Vinícius Leitão de Souza
3   Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Endocrinologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil;
,
Lenita Zajdenverg
2   Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Nutrologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil;
,
Soniza Vieira Alves-Leon
1   Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Neurologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil;
4   Universidade Federal do Estado do Rio de Janeiro, Faculdade de Medicina, Departamento de Neurologia, Rio de Janeiro, RJ, Brasil.
,
Melanie Rodacki
2   Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Nutrologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil;
,
Marco Antçnio Sales Dantas de Lima
1   Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Neurologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil;
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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.

RESUMO

A enzima ácido glutâmico descarboxilase (GAD), presente nos neurçnios GABAérgicos e células beta do pâncreas, catalisa a conversão do ácido gama-aminobutírico (GABA). O cerebelo é altamente susceptível a mecanismos imunomediados, sendo a ataxia cerebelar associada ao anticorpo anti-GAD (CA-GAD) uma doença potencialmente tratável. Embora rara, sua frequência é crescente, com poucos casos descritos.

Métodos

Estudo retrospectivo e descritivo avaliando características clínicas e desfechos da CA-GAD.

Resultados

Três pacientes com CA-GAD, altos títulos de anti-GAD e doença endócrina autoimune foram identificados. Os pacientes 1 e 2 tinham síndrome da pessoa rígida em forma clássica e apresentação insidiosa da ataxia cerebelar, enquanto o paciente 3 tinha ataxia cerebelar pura e apresentação subaguda. Os pacientes 1 e 3 não melhoraram com imunoglobulina intravenosa e o paciente 2 teve recuperação parcial.

Conclusão

A CA-GAD é rara e pode ter apresentação clínica desafiadora. Os médicos devem ser capazes de reconhecer essa forma potencialmente tratável de ataxia cerebelar autoimune.

autoimmunity - cerebellar ataxia - diabetes mellitus
autoimunidade - ataxia cerebelar - diabetes mellitus

Support:

Rio de Janeiro State Foundation for the Support of Research (FAPERJ – Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro).




Publication History

Received: 17 August 2016

Accepted: 05 December 2016

Article published online:
05 September 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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