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Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity
| dc.contributor.author | Bernardo, F | |
| dc.contributor.author | Rebordão, L | |
| dc.contributor.author | Rêgo, A | |
| dc.contributor.author | Machado, S | |
| dc.contributor.author | Passos, J | |
| dc.contributor.author | Costa, C | |
| dc.contributor.author | Cruz, S | |
| dc.contributor.author | Pinto, A | |
| dc.contributor.author | Santos, M | |
| dc.date.accessioned | 2020-07-07T14:28:14Z | |
| dc.date.available | 2020-07-07T14:28:14Z | |
| dc.date.issued | 2020 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | J Neuroimmunol. 2020 Apr 15;341:577192 | pt_PT |
| dc.identifier.doi | 10.1016/j.jneuroim.2020.577192 | pt_PT |
| dc.identifier.issn | 1872-8421 | |
| dc.identifier.uri | http://hdl.handle.net/10400.10/2463 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Elsevier | pt_PT |
| dc.subject | Stiff-person syndrome | pt_PT |
| dc.title | Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Amsterdam | pt_PT |
| oaire.citation.title | Journal of Neuroimmunology | pt_PT |
| rcaap.rights | closedAccess | pt_PT |
| rcaap.type | article | pt_PT |
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