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Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody

Erkingül Shugaiv1, Maria Isabel Leite, Elçin Şehitoğlu

  • 1Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

European Neurology
|February 23, 2013
PubMed
Abstract

Insights

Progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome presents diverse immunological features, suggesting varied causes. Identifying specific antibodies in PERM patients may predict treatment response.

Area of Science:

  • Neurology
  • Immunology
  • Neuroimmunology

Background:

  • Progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome is a rare autoimmune neurological disorder.
  • Characterizing PERM phenotypes and underlying immunological mechanisms is crucial for diagnosis and treatment.

Observation:

  • Investigated clinical features and antibody status in PERM patients using various immunological assays.
  • Identified novel phenotypes including supratentorial involvement and associated PET/EEG abnormalities.
  • Detected Ma3-antibodies in a patient with renal cell carcinoma and LGI1/GAD antibodies in another with immunotherapy response.

Findings:

  • PERM syndrome exhibits significant heterogeneity in immunological profiles.
  • Specific autoantibodies, such as LGI1 and GAD, are associated with PERM.
  • Co-occurrence of PERM with other conditions like renal cell carcinoma is observed.

Implications:

  • The diverse pathogenic mechanisms in PERM necessitate tailored diagnostic and therapeutic approaches.
  • Seropositivity to well-characterized neuronal antigens may serve as a biomarker for predicting treatment efficacy in PERM.
  • Further research into novel PERM phenotypes and antibody targets is warranted.

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