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

2020; Elsevier BV; Volume: 341; Linguagem: Inglês

10.1016/j.jneuroim.2020.577192

1872-8421

Francisco Bernardo, Leonor Rebordão, André Rêgo, Sara Machado, João Passos, Cristina Costa, Simão Cruz, Amélia Nogueira Pinto, Mariana Santos,

Myasthenia Gravis and Thymoma

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.