Progressive encephalomyelitis with rigidity and myoclonus

Turner, Martin R; Irani, Sarosh R.; Leite, Maria Isabel; Nithi, Kannan; Vincent, Angela; Ansorge, Olaf

doi:10.1212/wnl.0b013e318227b176

Cited by 94 publications

(52 citation statements)

References 13 publications

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“…Patients with progressive encephalopathy associated with limb rigidity are said to have progressive encephalomyelitis with rigidity and myoclonus (PERM) or stiff-person plus syndrome. Antibodies to the glycine receptor have been identified in patients with PERM [307,308]. Patients with SPS, and especially PERM, may develop respiratory failure and are at risk for sudden cardiac death [309].…”

Section: Stiff-person Syndromementioning

confidence: 99%

Immune Mediated Diseases and Immune Modulation in the Neurocritical Care Unit

Geldern¹,

McPharlin

Becker

2012

Neurotherapeutics

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This chapter will review the spectrum of immunemediated diseases that affect the nervous system and may result in an admission to the neurological intensive care unit. Immunomodulatory strategies to treat acute exacerbations of neurological diseases caused by aberrant immune responses are discussed, but strategies for long-term immunosuppression are not presented. The recommendations for therapeutic intervention are based on a synthesis of the literature, and include recommendations by the Cochrane Collaborative, the American Academy of Neurology, and other key organizations. References from recent publications are provided for the disorders and therapies in which randomized clinical trials and large evidenced-based reviews do not exist. The chapter concludes with a brief review of the mechanisms of action, dosing, and side effects of commonly used immunosuppressive strategies in the neurocritical care unit.

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Section: Stiff-person Syndromementioning

confidence: 99%

Immune Mediated Diseases and Immune Modulation in the Neurocritical Care Unit

Geldern¹,

McPharlin

Becker

2012

Neurotherapeutics

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“…Antibodies to other neuronal synapse proteins such as amphiphysin and glycine receptor (GlyR) have also been identified in PERM patients with or without a tumor [2,3,8,9]. Despite rare reports of PERM patients without antineuronal antibodies [10], several reported PERM cases with inflammatory CSF features, antineuronal antibodies and good response to immunotherapy indicate the autoimmune nature of PERM [1].…”

Section: Introductionmentioning

confidence: 99%

“…PERM is still an expanding clinical entity, which is constantly being enriched with new symptoms and antibodies [3,8,9]. The heterogeneity of the immunological features of PERM patients suggests that PERM is caused by diverse pathogenic mechanisms in different patients.…”

Section: Introductionmentioning

confidence: 99%

Progressive Encephalomyelitis with Rigidity and Myoclonus: A Syndrome with Diverse Clinical Features and Antibody Responses

Shugaiv

Leite

Şehitoğlu³

et al. 2013

Eur Neurol

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Background/Aims: To better characterize progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome and identify novel PERM phenotypes. Methods: The clinical features and antibody status of PERM patients were investigated using immunoblots, cell-based assays, RIA, protein macroarray and ELISA. Results: Two patients with supratentorial involvement showed abnormal PET or EEG findings. One patient was discovered to have renal cell carcinoma, and protein macroarray revealed Ma3-antibodies. Another patient with leucine-rich, glioma-inactivated 1 (LGI1) and glutamic acid decarboxylase (GAD) antibodies showed a good response to immunotherapy. Conclusion: The heterogeneity of the immunological features suggests that PERM is caused by diverse pathogenic mechanisms. Seropositivity to well-characterized neuronal cell surface antigens might indicate a good treatment response.

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“…The past decade witnessed the emergency of serum autoantibodies against SAg and synaptic-enriched regions leading to LE that spared the cytoplasm and nuclei of neurons, such as those against GluN1 or GluN2/3 synaptic subunits of N-methyl-D-aspartate (NMDA) [46] and glycine receptors [47]; and the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor [48]. Several novel neuropil antigens that localized to neuronal and dendritic cell surface co-localized with synaptophysin and spinophilin [49].…”

mentioning

confidence: 99%

Autoimmune Encephalitides

Younger¹

2017

WJNS

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Autoimmune encephalitis is a potentially severe disorder of the brain of diverse causes with a complex differential diagnosis. Recent advances in the past decade have led to the elucidation of new syndromes and biological markers transforming the approach to diagnosis and management of autoimmune encephalitis. Limbic encephalitis, the commonest form of autoimmune encephalitis, combines common presentations of cognitive, psychiatric, and epileptic disorders and has until recently been considered paraneoplastic or postinfectious in origin. The autoimmune encephalitides are clinically and histopathologically associated with serum and intrathecal antibodies to intracellular and surface neuronal antigens, and constituents of the limbic system neuropil. This has led to a reconsideration of a number of neuropsychiatric and neurocognitive disorders as having shared mechanisms of origin. This chapter reviews their historical background, clinical presentation, laboratory evaluation, histopathology, diagnosis and management. KeywordsAutoimmune, Encephalitis, Hashimoto, Encephalopathy Historical PerspectiveCorsellis and colleagues [1] coined the term limbic encephalitis (LE) in 1968, noting a relation to bronchial cancer in three patients in the sixth to eighth decade of life, and showing close clinicopathologic similarity to cases described by Brierley and colleagues [2] six years earlier. All three cases had subacute temporal lobe seizures, neuropsychiatric, and memory disturbances for two years before death. Postmortem examination showed inflammatory lesions in limbic grey matter sections of the brain, especially in medial temporal lobe structures of the uncus and amygdala nuclei, and hippocampal, cingulum and dentate gyri. Case 2 had an undifferentiated non-metastatic lung carcinoma removed six months after onset of neurological symptoms, while two others had a clinically unsus- The formulation of the relation of GAD antibodies to SPS has been especially instructive in understanding how far the science of autoimmune neurologic disorder has advanced. In 1988, Solimena and colleagues [28] investigated the existence of non-paraneoplastic CNS autoimmunity in a patient with SPS, epilepsy and type-1 diabetes (T1D), and increased titers of oligoclonal CSF IgG. Both the serum and CSF produced identical intense staining of all gray-matter regions. GAD65 was thence an important autoantigen in T1D, being highly expressed in the cytoplasm of pancreatic β cells. GAD-derived peptides were presentable by main histocompatibility complex (MHC) class I molecules and recognized by CD8+ cells on the surface of β cells [29]. Activation of CD8+ GAD-specific T-cells further differentiated into memory cells suggesting a pathogenic role in T1D [30]. However, only patients with very high titers of GAD were associated with LE [31], and they typically presented with recent-onset temporal lobe epilepsy (TLE) and intrathecal secretion, defining a form of non-paraneoplastic LE. Other patients within the SPS spectrum harbored antibodies agains...

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Progressive encephalomyelitis with rigidity and myoclonus

Abstract: Background:The syndrome of progressive encephalopathy with limb rigidity has been historically

Cited by 94 publications

References 13 publications

Immune Mediated Diseases and Immune Modulation in the Neurocritical Care Unit

Immune Mediated Diseases and Immune Modulation in the Neurocritical Care Unit

Progressive Encephalomyelitis with Rigidity and Myoclonus: A Syndrome with Diverse Clinical Features and Antibody Responses

Autoimmune Encephalitides

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