{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:05:08Z","timestamp":1753891508100,"version":"3.41.2"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T00:00:00Z","timestamp":1650844800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and disabling syndrome characterized by painful spasms, myoclonic jerks, hyperekplexia, brainstem signs, and dysautonomia, which is considered to be a severe form of stiff person spectrum disorder (SPSD) and is mostly associated with glycine receptor antibodies. The PERM has an acute or subacute course, with complex and varied initial symptoms mainly manifest as stiffness and pain. The authors present the case of a male patient admitted for intractable stiffness and paroxysmal myoclonus of the lower extremities preceded by a 5-day history of facial weakness. After admission, his symptoms deteriorated rapidly. He developed progressive generalized hypertonia and painful spasms, which quickly spread to the upper extremities, and he suffered frequent paroxysmal myoclonus. Serum and cerebrospinal fluid (CSF) were tested by a cell-based assay, and both were positive for glycine receptor antibodies (GlyR-Abs). The patient developed complications, such as crushed teeth, lumbar vertebral compression fractures, and psoas major muscle abscess, during rapid disease progression, although he responded well after being treated with intravenous methylprednisolone and immunoglobulin. This report of PERM, initiated as facial palsy followed by acute progression, helps to expand the clinical spectrum of this rare autoimmune disorder and raise awareness of the prevention of complications.<\/jats:p>","DOI":"10.3389\/fneur.2022.866183","type":"journal-article","created":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T16:56:41Z","timestamp":1650905801000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Facial Palsy as Initial Symptom in Glycine Receptor Antibody Positive Progressive Encephalomyelitis With Rigidity and Myoclonus: A Case Report"],"prefix":"10.3389","volume":"13","author":[{"given":"Li","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yafang","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuming","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,4,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2178","DOI":"10.1093\/brain\/awu142","article-title":"Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes","volume":"137","author":"Carvajal-Gonz\u00e1lez","year":"2014","journal-title":"Brain."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1212\/01.wnl.0000327606.50322.f0","article-title":"Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody","volume":"71","author":"Hutchinson","year":"2008","journal-title":"Neurology."},{"key":"B3","doi-asserted-by":"publisher","first-page":"106807","DOI":"10.1016\/j.clineuro.2021.106807","article-title":"Progressive encephalomyelitis with rigidity: a Taiwanese case and review of literature","volume":"208","author":"Chang","year":"2021","journal-title":"Clin Neurol Neurosurg."},{"key":"B4","doi-asserted-by":"publisher","first-page":"2707","DOI":"10.1016\/j.neuron.2021.08.019","article-title":"Characterization of the subunit composition and structure of adult human glycine receptors","volume":"109","author":"Yu","year":"2021","journal-title":"Neuron."},{"key":"B5","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1001\/archneur.1995.00540300052012","article-title":"Molecular genetic reevaluation of the Dutch hyperekplexia family","volume":"52","author":"Tijssen","year":"1995","journal-title":"Arch Neurol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"3398","DOI":"10.1093\/brain\/awz297","article-title":"Glycine receptor autoantibodies disrupt inhibitory neurotransmission","volume":"142","author":"Crisp","year":"2019","journal-title":"Brain."},{"key":"B7","doi-asserted-by":"publisher","first-page":"E438","DOI":"10.1212\/NXI.0000000000000438","article-title":"Glycine receptor modulating antibody predicting treatable stiff-person spectrum disorders","volume":"5","author":"Hinson","year":"2018","journal-title":"Neurol Neuroimmunol Neuroinflamm."},{"key":"B8","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/j.parkreldis.2020.11.008","article-title":"Levodopa-responsive progressive encephalomyelitis with rigidity and myoclonus associated with glycine receptor antibodies","volume":"82","author":"Sturchio","year":"2021","journal-title":"Parkinsonism Relat Disord."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1399","DOI":"10.1136\/jnnp.2010.229104","article-title":"Antiglycine-receptor encephalomyelitis with rigidity","volume":"82","author":"Mas","year":"2011","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"B10","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1186\/s12883-022-02555-y","article-title":"Inspiratory laryngeal stridor as the main feature of progressive encephalomyelitis with rigidity and myoclonus: a case report and literature review","volume":"22","author":"Yao","year":"2022","journal-title":"BMC Neurol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.psym.2018.05.005","article-title":"Progressive encephalomyelitis with rigidity and myoclonus syndrome presenting as catatonia","volume":"60","author":"Witek","year":"2019","journal-title":"Psychosomatics."},{"key":"B12","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1159\/000342237","article-title":"Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses","volume":"69","author":"Shugaiv","year":"2013","journal-title":"Eur Neurol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"401","DOI":"10.3389\/fneur.2017.00401","article-title":"Progressive encephalomyelitis with rigidity and myoclonus associated with anti-glyr antibodies and hodgkin's lymphoma: a case report","volume":"8","author":"Borellini","year":"2017","journal-title":"Front Neurol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1177\/000348940511400612","article-title":"Congenital bilateral vocal cord paralysis and the role of glycine","volume":"114","author":"Berkowitz","year":"2005","journal-title":"Ann Otol Rhinol Laryngol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1002\/mds.10279","article-title":"Stiff man syndrome and related conditions","volume":"17","author":"Meinck","year":"2002","journal-title":"Mov Disord."},{"key":"B16","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1177\/1756285615614812","article-title":"Progressive encephalomyelitis with rigidity and myoclonus (PERM): brucellosis as a possible triggering factor and long-term follow-up therapy with rituximab","volume":"9","author":"Magira","year":"2016","journal-title":"Ther Adv Neurol Disord."},{"key":"B17","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1136\/jnnp-2014-309201","article-title":"Stiff-person syndrome: insights into a complex autoimmune disorder","volume":"86","author":"Baizabal-Carvallo","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"B18","doi-asserted-by":"publisher","first-page":"38","DOI":"10.3389\/fneur.2020.00038","article-title":"Two cases of late-onset anti-NMDAR auto-immune encephalitis after herpes simplex virus 1 encephalitis","volume":"11","author":"Dorcet","year":"2020","journal-title":"Front NEUROL."},{"key":"B19","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1002\/mds.25626","article-title":"N-Methyl-D-aspartate receptor antibodies in post-herpes simplex virus encephalitis neurological relapse","volume":"29","author":"Hacohen","year":"2014","journal-title":"Mov Disord."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1150","DOI":"10.1128\/JCM.02082-09","article-title":"Development of real-time PCR Assays for detection of the streptococcus milleri group from cystic fibrosis clinical specimens by targeting the Cpn60 and 16S RRNA genes","volume":"48","author":"Olson","year":"2010","journal-title":"J Clin Microbiol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"E14534","DOI":"10.7759\/cureus.14534","article-title":"Aggressive presentation of streptococcus constellatus","volume":"13","author":"Vulisha","year":"2021","journal-title":"Cureus."},{"key":"B22","doi-asserted-by":"publisher","first-page":"2475","DOI":"10.2169\/internalmedicine.6604-20","article-title":"Iliopsoas hematomas in a patient with progressive encephalomyelitis with rigidity and myoclonus","volume":"60","author":"Shimazaki","year":"2021","journal-title":"Intern Med."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.866183\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T16:56:43Z","timestamp":1650905803000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.866183\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,25]]},"references-count":22,"alternative-id":["10.3389\/fneur.2022.866183"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2022.866183","relation":{},"ISSN":["1664-2295"],"issn-type":[{"type":"electronic","value":"1664-2295"}],"subject":[],"published":{"date-parts":[[2022,4,25]]},"article-number":"866183"}}