Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity

Detalhes bibliográficos
Autor(a) principal: Bernardo, F
Data de Publicação: 2020
Outros Autores: Rebordão, L, Rêgo, A, Machado, S, Passos, J, Costa, C, Cruz, S, Pinto, A, Santos, M
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.10/2463
Resumo: Stiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Immunotherapy is the primary treatment modality. We present an illustrative case series of three patients: anti-GlyR antibody-mediated PERM presenting as rapidly progressive dementia; anti-amphiphysin antibody-mediated SPS; and SPS presentation with anti-Zic4 antibodies, spasmodic laryngeal stridor and fluctuating eyelid ptosis. Clinical characteristics, CSF findings, neurophysiological features, adequate immunological assays and a high suspicion index are essential for prompt diagnosis and management.
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spelling Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversityStiff-person syndromeStiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Immunotherapy is the primary treatment modality. We present an illustrative case series of three patients: anti-GlyR antibody-mediated PERM presenting as rapidly progressive dementia; anti-amphiphysin antibody-mediated SPS; and SPS presentation with anti-Zic4 antibodies, spasmodic laryngeal stridor and fluctuating eyelid ptosis. Clinical characteristics, CSF findings, neurophysiological features, adequate immunological assays and a high suspicion index are essential for prompt diagnosis and management.ElsevierRepositório do Hospital Prof. Doutor Fernando FonsecaBernardo, FRebordão, LRêgo, AMachado, SPassos, JCosta, CCruz, SPinto, ASantos, M2020-07-07T14:28:14Z2020-01-01T00:00:00Z2020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.10/2463engJ Neuroimmunol. 2020 Apr 15;341:5771921872-842110.1016/j.jneuroim.2020.577192metadata only accessinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-20T15:53:07Zoai:repositorio.hff.min-saude.pt:10400.10/2463Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:53:22.467031Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
title Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
spellingShingle Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
Bernardo, F
Stiff-person syndrome
title_short Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
title_full Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
title_fullStr Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
title_full_unstemmed Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
title_sort Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
author Bernardo, F
author_facet Bernardo, F
Rebordão, L
Rêgo, A
Machado, S
Passos, J
Costa, C
Cruz, S
Pinto, A
Santos, M
author_role author
author2 Rebordão, L
Rêgo, A
Machado, S
Passos, J
Costa, C
Cruz, S
Pinto, A
Santos, M
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Hospital Prof. Doutor Fernando Fonseca
dc.contributor.author.fl_str_mv Bernardo, F
Rebordão, L
Rêgo, A
Machado, S
Passos, J
Costa, C
Cruz, S
Pinto, A
Santos, M
dc.subject.por.fl_str_mv Stiff-person syndrome
topic Stiff-person syndrome
description Stiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Immunotherapy is the primary treatment modality. We present an illustrative case series of three patients: anti-GlyR antibody-mediated PERM presenting as rapidly progressive dementia; anti-amphiphysin antibody-mediated SPS; and SPS presentation with anti-Zic4 antibodies, spasmodic laryngeal stridor and fluctuating eyelid ptosis. Clinical characteristics, CSF findings, neurophysiological features, adequate immunological assays and a high suspicion index are essential for prompt diagnosis and management.
publishDate 2020
dc.date.none.fl_str_mv 2020-07-07T14:28:14Z
2020-01-01T00:00:00Z
2020-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.10/2463
url http://hdl.handle.net/10400.10/2463
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Neuroimmunol. 2020 Apr 15;341:577192
1872-8421
10.1016/j.jneuroim.2020.577192
dc.rights.driver.fl_str_mv metadata only access
info:eu-repo/semantics/openAccess
rights_invalid_str_mv metadata only access
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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