A new variant of progressive encephalomyelitis with rigidity and myoclonus with DPPX antibodies


Progressive encephalomyelitis with rigidity and myoclonus ( PERM ) is a variant of the Stiff Person Syndrome. Associated antibodies are mainly directed against glutamic acid decarboxylase ( GAD ), glycine receptors ( GlyR ), or amphiphysin.

A distinct variant of PERM was presented, comprising marked hyperekplexia, cerebellar ataxia, and trunk stiffness who tested negative for the antibodies hitherto described, but positive for a new antibody directed against the dipeptidyl peptidase-like protein 6 ( DPPX or DPP6 ).

A recombinant, cell-based indirect immunofluorescence assay with DPPX-expressing HEK293 cells was used to detect DPPX antibodies in conjunction with mammalian tissues.

All patients presented with a distinct syndrome involving hyperekplexia, prominent cerebellar ataxia with marked eye movement disorder, and trunk stiffness of variable intensity. Additional symptoms comprised allodynia, neurogenic pruritus, and gastrointestinal symptoms.
Symptoms began insidiously and progressed slowly.

An inflammatory CSF profile with mild pleocytosis and intrathecal IgG -synthesis was found in all patients. High DPPX antibody titers were detected in the patient’s serum and CSF, with specific antibody indices suggestive of intrathecal synthesis of DPPX antibodies.

Response to immunotherapy was good, but constant and aggressive treatment may be required.

In conclusion, these cases highlight the expanding spectrum of both PERM and anti-neuronal antibodies. Testing for DPPX antibodies should be considered in the diagnostic work-up of patients with acquired hyperekplexia, cerebellar ataxia, and stiffness, as such patients might benefit from immunotherapy. ( Xagena )

Balint B et al, European Neurological Society ( ENS ) Congress, 2014

XagenaMedicine_2014



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