title: Glycine receptor antibody mediated Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM): a rare but treatable neurological syndrome.
abstract: A 40-year-old man presented with respiratory compromise and was intubated. After tracheostomy, he was found to have ophthalmoplegia, severe limb rigidity, stimulus-sensitive myoclonus and autonomic dysfunction. For 1&emsp14;week before admission, there had been a prodromal illness with low mood, hallucinations and limb myoclonus. Serum glycine receptor antibodies were strongly positive: we diagnosed progressive encephalomyelitis with rigidity and myoclonus. Despite a relapse, he has done well following immunotherapies. The clinical syndrome of encephalomyelitis with rigidity, described in 1976, often has a severe progressive course. A minority of patients have glutamic acid decarboxylase antibodies. The association with glycine receptor antibody was first reported in 2008, and we briefly review subsequent case reports to illustrate the range of clinical features. The antibody is likely to be disease mediating, although this remains unproven. The spectrum of diagnosable and treatable antibody mediated neurological syndromes is expanding. It is vital to recognise these conditions early to reduce morbidity and mortality.
authors.affiliation: Department of Neurology, Western Sussex Hospital NHS Trust (Worthing Hospital) and Hurstwoord Park Neurological Centre (Haywards Heath), , Worthing, West Sussex, UK.
authors.forename: W M
authors.initials: WM
authors.lastname: Stern
authors.forename: R
authors.initials: R
authors.lastname: Howard
authors.forename: R M
authors.initials: RM
authors.lastname: Chalmers
authors.forename: M R
authors.initials: MR
authors.lastname: Woodhall
authors.forename: P
authors.initials: P
authors.lastname: Waters
authors.forename: A
authors.initials: A
authors.lastname: Vincent
authors.forename: M M
authors.initials: MM
authors.lastname: Wickremaratchi
mesh_terms: D000328:Adult; D004679:Encephalomyelitis / Q000150:complications* / Q000188:drug therapy*; D049452:Green Fluorescent Proteins / Q000235:genetics / Q000378:metabolism; D057809:HEK293 Cells; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use*; D008297:Male; D009127:Muscle Rigidity / Q000150:complications* / Q000188:drug therapy*; D009207:Myoclonus / Q000150:complications* / Q000188:drug therapy*; D018009:Receptors, Glycine / Q000235:genetics / Q000276:immunology* / Q000378:metabolism; D014162:Transfection
chemical_list: D016756:Immunoglobulins, Intravenous; D018009:Receptors, Glycine; D049452:Green Fluorescent Proteins
keywords: CLINICAL NEUROLOGY; EYE MOVEMENTS; MOVEMENT DISORDERS; MYOCLONUS; NEUROIMMUNOLOGY