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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| Veröffentlicht in: | Arquivos de neuro-psiquiatria 2017-03, Vol.75 (3), p.142-146 |
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| creator | 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 |
| 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. |
| doi_str_mv | 10.1590/0004-282X20170011 |
| format | Article |
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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.</description><identifier>ISSN: 0004-282X</identifier><identifier>ISSN: 1678-4227</identifier><identifier>EISSN: 1678-4227</identifier><identifier>EISSN: 0004-282X</identifier><identifier>DOI: 10.1590/0004-282X20170011</identifier><identifier>PMID: 28355320</identifier><language>eng</language><publisher>Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil: Thieme Revinter Publicações Ltda</publisher><subject>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</subject><ispartof>Arquivos de neuro-psiquiatria, 2017-03, Vol.75 (3), p.142-146</ispartof><rights>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.</rights><rights>This work is licensed under a Creative Commons Attribution 4.0 International License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c523t-26c3f7b84bd4b24ef3f8de02d79ddde524f12beb989704c6f6dddfae42864dfc3</citedby><cites>FETCH-LOGICAL-c523t-26c3f7b84bd4b24ef3f8de02d79ddde524f12beb989704c6f6dddfae42864dfc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.thieme-connect.de/products/ejournals/pdf/10.1590/0004-282X20170011.pdf$$EPDF$$P50$$Gthieme$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.thieme-connect.de/products/ejournals/html/10.1590/0004-282X20170011$$EHTML$$P50$$Gthieme$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,860,881,20870,27901,27902,54562,54590</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28355320$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Aguiar, Tiago Silva</creatorcontrib><creatorcontrib>Fragoso, Andrea</creatorcontrib><creatorcontrib>Albuquerque, Carolina Rouanet de</creatorcontrib><creatorcontrib>Teixeira, Patrícia de Fátima</creatorcontrib><creatorcontrib>Souza, Marcus Vinícius Leitão de</creatorcontrib><creatorcontrib>Zajdenverg, Lenita</creatorcontrib><creatorcontrib>Alves-Leon, Soniza Vieira</creatorcontrib><creatorcontrib>Rodacki, Melanie</creatorcontrib><creatorcontrib>Lima, Marco Antçnio Sales Dantas de</creatorcontrib><title>Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies</title><title>Arquivos de neuro-psiquiatria</title><addtitle>Arq Neuropsiquiatr</addtitle><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.</description><subject>Adult</subject><subject>Autoantibodies - blood</subject><subject>autoimmunity</subject><subject>cerebellar ataxia</subject><subject>Cerebellar Ataxia - complications</subject><subject>Cerebellar Ataxia - diagnosis</subject><subject>Cerebellar Ataxia - drug therapy</subject><subject>Cerebellar Ataxia - immunology</subject><subject>diabetes mellitus</subject><subject>Female</subject><subject>Glutamate Decarboxylase - blood</subject><subject>Glutamate Decarboxylase - immunology</subject><subject>Humans</subject><subject>Immunoglobulins, Intravenous - therapeutic use</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Middle Aged</subject><subject>NEUROSCIENCES</subject><subject>PSYCHIATRY</subject><subject>Retrospective Studies</subject><subject>Treatment Outcome</subject><issn>0004-282X</issn><issn>1678-4227</issn><issn>1678-4227</issn><issn>0004-282X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>0U6</sourceid><sourceid>EIF</sourceid><sourceid>DOA</sourceid><recordid>eNqNUk1vEzEQtRCIhsAP4IL2yGXL-GN3vccqQKlUiQMgcbP8MSaONnGwHbX8e5xuk0qcONkav_dm5j0T8pbCJe1G-AAAomWS_WRABwBKn5EF7QfZCsaG52Rxfr8gr3LeADAxjsNLcsEk7zrOYEHUagq7YPXU2LVO2hZMIZdgcxN9s9cl4K7k5i6UdWMxocFp0qnRRd8H3eicow26oJsReldCe3318eFioguYX5MXXk8Z3zyeS_Lj86fvqy_t7dfrm9XVbWs7xkvLesv9YKQwThgm0HMvHQJzw-icw44JT5lBM8pxAGF739ey1yiY7IXzli_Jzazrot6ofQpbnf6oqIN6KMT0S-lU95pQ0dqECeCjYVLYEWUnaG1vJK3NvRuq1uWslW3AKapNPKRdHV59OxqqngwHXk0XrBLez4R9ir8PmIvahmyPVu0wHrKiUta5xw74_0BZBzDUhJaEzlCbYs4J_XktCuqYvzqNc3_Kv3LePcofzBbdmXEKvAJgBpR1wC0-7fav5vlP8b-EKLc9</recordid><startdate>201703</startdate><enddate>201703</enddate><creator>Aguiar, Tiago Silva</creator><creator>Fragoso, Andrea</creator><creator>Albuquerque, Carolina Rouanet de</creator><creator>Teixeira, Patrícia de Fátima</creator><creator>Souza, Marcus Vinícius Leitão de</creator><creator>Zajdenverg, Lenita</creator><creator>Alves-Leon, Soniza Vieira</creator><creator>Rodacki, Melanie</creator><creator>Lima, Marco Antçnio Sales Dantas de</creator><general>Thieme Revinter Publicações Ltda</general><general>Academia Brasileira de Neurologia - ABNEURO</general><general>Academia Brasileira de Neurologia (ABNEURO)</general><scope>0U6</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>7TK</scope><scope>GPN</scope><scope>DOA</scope></search><sort><creationdate>201703</creationdate><title>Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c523t-26c3f7b84bd4b24ef3f8de02d79ddde524f12beb989704c6f6dddfae42864dfc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adult</topic><topic>Autoantibodies - blood</topic><topic>autoimmunity</topic><topic>cerebellar ataxia</topic><topic>Cerebellar Ataxia - complications</topic><topic>Cerebellar Ataxia - diagnosis</topic><topic>Cerebellar Ataxia - drug therapy</topic><topic>Cerebellar Ataxia - immunology</topic><topic>diabetes mellitus</topic><topic>Female</topic><topic>Glutamate Decarboxylase - blood</topic><topic>Glutamate Decarboxylase - immunology</topic><topic>Humans</topic><topic>Immunoglobulins, Intravenous - therapeutic use</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Middle Aged</topic><topic>NEUROSCIENCES</topic><topic>PSYCHIATRY</topic><topic>Retrospective Studies</topic><topic>Treatment Outcome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Aguiar, Tiago Silva</creatorcontrib><creatorcontrib>Fragoso, Andrea</creatorcontrib><creatorcontrib>Albuquerque, Carolina Rouanet de</creatorcontrib><creatorcontrib>Teixeira, Patrícia de Fátima</creatorcontrib><creatorcontrib>Souza, Marcus Vinícius Leitão de</creatorcontrib><creatorcontrib>Zajdenverg, Lenita</creatorcontrib><creatorcontrib>Alves-Leon, Soniza Vieira</creatorcontrib><creatorcontrib>Rodacki, Melanie</creatorcontrib><creatorcontrib>Lima, Marco Antçnio Sales Dantas de</creatorcontrib><collection>Thieme Connect Journals Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><collection>SciELO</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Arquivos de neuro-psiquiatria</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Aguiar, Tiago Silva</au><au>Fragoso, Andrea</au><au>Albuquerque, Carolina Rouanet de</au><au>Teixeira, Patrícia de Fátima</au><au>Souza, Marcus Vinícius Leitão de</au><au>Zajdenverg, Lenita</au><au>Alves-Leon, Soniza Vieira</au><au>Rodacki, Melanie</au><au>Lima, Marco Antçnio Sales Dantas de</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies</atitle><jtitle>Arquivos de neuro-psiquiatria</jtitle><addtitle>Arq Neuropsiquiatr</addtitle><date>2017-03</date><risdate>2017</risdate><volume>75</volume><issue>3</issue><spage>142</spage><epage>146</epage><pages>142-146</pages><issn>0004-282X</issn><issn>1678-4227</issn><eissn>1678-4227</eissn><eissn>0004-282X</eissn><abstract>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.</abstract><cop>Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil</cop><pub>Thieme Revinter Publicações Ltda</pub><pmid>28355320</pmid><doi>10.1590/0004-282X20170011</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Thieme Connect Journals Open Access |
| 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 |
| title | Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies |
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