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Progressive encephalomyelitis with rigidity and myoclonus: a new variant with DPPX antibodies

Bettina Balint1, Sven Jarius, Simon Nagel

  • 1From the Departments of Neurology (B.B., S.J., S.N., H.-M.M.) and Nuclear Medicine (U.H.), University of Heidelberg; Institute for Experimental Immunology (C.P., I.M.B., R.B., L.K., W.S.), Euroimmun, Lübeck; Department of Neurology (A.K.), Klinikum Bremen Ost; and Department of Neurology (M.K.), Community Hospital Herdecke, Germany.

Neurology
|April 4, 2014
PubMed
Abstract

Insights

A novel variant of progressive encephalomyelitis with rigidity and myoclonus (PERM) linked to dipeptidyl peptidase-like protein 6 (DPPX) antibodies is described. Early detection and immunotherapy may benefit patients with this rare neurological disorder.

Area of Science:

  • Neuroimmunology
  • Neurology
  • Autoimmune disorders

Background:

  • Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare neurological condition.
  • Autoimmune disorders targeting neuronal surface proteins are increasingly recognized.

Observation:

  • Three patients presented with a distinct PERM variant characterized by hyperekplexia, cerebellar ataxia, eye movement disorders, and trunk stiffness.
  • Additional symptoms included allodynia, neurogenic pruritus, and gastrointestinal issues, with insidious onset and slow progression.

Findings:

  • All patients exhibited an inflammatory cerebrospinal fluid profile and high titers of dipeptidyl peptidase-like protein 6 (DPPX) antibodies in serum and CSF.
  • Specific antibody indices suggested intrathecal synthesis of DPPX antibodies, indicating an autoimmune response within the central nervous system.

Implications:

  • These findings expand the known clinical spectrum of PERM and anti-neuronal antibodies.
  • Testing for DPPX antibodies is recommended for patients with acquired hyperekplexia, cerebellar ataxia, and stiffness, as immunotherapy may be beneficial.
  • Further research is needed to fully understand the clinical manifestations and pathogenesis of DPPX antibody-associated disorders.

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