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

Detalhes bibliográficos
Autor(a) principal: Aguiar,Tiago Silva
Data de Publicação: 2017
Outros Autores: 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 Antônio Sales Dantas de
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000300142
Resumo: 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.
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spelling Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodiesautoimmunitycerebellar ataxiadiabetes mellitusABSTRACT 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.Academia Brasileira de Neurologia - ABNEURO2017-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000300142Arquivos de Neuro-Psiquiatria v.75 n.3 2017reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282x20170011info:eu-repo/semantics/openAccessAguiar,Tiago SilvaFragoso,AndreaAlbuquerque,Carolina Rouanet deTeixeira,Patrícia de FátimaSouza,Marcus Vinícius Leitão deZajdenverg,LenitaAlves-Leon,Soniza VieiraRodacki,MelanieLima,Marco Antônio Sales Dantas deeng2017-03-20T00:00:00Zoai:scielo:S0004-282X2017000300142Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2017-03-20T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
title Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
spellingShingle Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
Aguiar,Tiago Silva
autoimmunity
cerebellar ataxia
diabetes mellitus
title_short Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
title_full Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
title_fullStr Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
title_full_unstemmed Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
title_sort Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
author Aguiar,Tiago Silva
author_facet 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 Antônio Sales Dantas de
author_role author
author2 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 Antônio Sales Dantas de
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv 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 Antônio Sales Dantas de
dc.subject.por.fl_str_mv autoimmunity
cerebellar ataxia
diabetes mellitus
topic autoimmunity
cerebellar ataxia
diabetes mellitus
description 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.
publishDate 2017
dc.date.none.fl_str_mv 2017-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000300142
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000300142
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/0004-282x20170011
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.75 n.3 2017
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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