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

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.

journal_name

J Neuroimmunol

journal_title

Journal of neuroimmunology

authors

Bernardo F,Rebordão L,Rêgo A,Machado S,Passos J,Costa C,Cruz S,Pinto AN,Santos M

doi

10.1016/j.jneuroim.2020.577192

subject

Has Abstract

pub_date

2020-04-15 00:00:00

pages

577192

eissn

0165-5728

issn

1872-8421

pii

S0165-5728(19)30636-8

journal_volume

341

pub_type

杂志文章,评审

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