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Abstract Details

Progressive Encephalomyelitis with Rigidity and Myoclonus with Glycine Receptor Antibodies
Autoimmune Neurology
P4 - Poster Session 4 (8:00 AM-9:00 AM)
2-001
The aim of this study was to describe the clinical features and long-term outcome of patients with glycine receptor (GlyR) antibody–mediated progressive encephalomyelitis with rigidity and myoclonus (PERM).
PERM is a disease commonly included under the term of stiff-person spectrum disorders (SPSDs).
Retrospective analysis of patients with PERM and GlyR antibodies diagnosed in our laboratory and a systematic literature review of previously reported patients with ≥12 months of follow-up.
Forty-one patients were identified, 22 from our database and 19 from the literature. The median age was 58 years (IQR: 43–66 years), and 36 (88%) were male. Median time from symptom onset to admission was 2 weeks (IQR 1–4 weeks). Predominant presentations included brainstem symptoms, mainly dysphagia and trismus, in 23 patients (56%); muscle stiffness and myoclonus in 9 (22%); dysesthesias or pruritus in 7 (17%); and cacosmia with dysgeusia in 2 (5%). Five patients (12%) never developed muscle stiffness. The median (range) mRS score at nadir was 5 (3–5). All patients received immunotherapy. Eleven patients died, 8 from complications of PERM. There were 12 relapses in 10/36 (28%) patients who lived >6 months; all responded to immunotherapy. The functional status at the last visit, median time 24 months (IQR: 18–72 months), was good (mRS<3) in 23 (70%) of the 33 patients who did not die from PERM. Age (HR: 1.06; 95% CI 1.01–1.11; p = 0.019) and admission to the intensive care unit (HR: 5.26; 95% CI 1.41–19.57, p = 0.013) were independent predictors of bad outcome (mRS≥3).
GlyR antibody–mediated PERM is a rapidly progressive and severe disease that predominantly affects men and frequently presents with brainstem involvement. Its distinct demographic and clinical features suggest that it should be considered separately from SPSDs, which typically follows a chronic course and is more commonly associated with glutamic acid decarboxylase antibodies.
Authors/Disclosures
Mar Guasp, MD (Hospital Clínic Barcelona - IDIBAPS)
PRESENTER 		Dr. Guasp has nothing to disclose.
Albert Saiz (Hospital Clinico De Barcelona) Albert Saiz has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Albert Saiz has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Horizon Therapeutics. Albert Saiz has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Albert Saiz has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Janseen. Albert Saiz has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. Albert Saiz has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for novartis. Albert Saiz has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen.
Marina Ruiz Vives, MD Mrs. Ruiz Vives has nothing to disclose.
Miriam Almendrote, MD, PhD Dr. Almendrote has nothing to disclose.
Jordi Bruna (Hospital Universitari De Bellvitge - ICO Duran I Reynals) Jordi Bruna has nothing to disclose.
Jordi Gonzalez-Menacho, MD Dr. Gonzalez-Menacho has nothing to disclose.
Juntaro Kaneko Juntaro Kaneko has nothing to disclose.
Lorena Martín-Aguilar, Jr., MD, PhD Mrs. Martín-Aguilar has nothing to disclose.
Francisco A. Martínez-García, MD, PhD Dr. Martínez-García has nothing to disclose.
Kazuyuki Noda, MD, PhD Prof. Noda has nothing to disclose.
Angel Ruiz Molina Dr. Ruiz Molina has nothing to disclose.
Sara Sequeiros Fernandez, MD Dr. Sequeiros Fernandez has nothing to disclose.
Mateus M. Simabukuro, MD (Hospital Das Clinicas, Sao Paulo U Scho of Med) Dr. Simabukuro has nothing to disclose.
megumi takenaka, MD Mrs. takenaka has nothing to disclose.
Jose Martin Zurdo Hernandez, MD (Novartis Pharma AG) Jose Martin Zurdo Hernandez, MD has nothing to disclose.
Josep O. Dalmau, MD, PhD, FAAN Dr. Dalmau has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Astellas Research Institute of America. Dr. Dalmau has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen Research & Development . Dr. Dalmau has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for 好色先生. An immediate family member of Dr. Dalmau has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Springer Nature. The institution of Dr. Dalmau has received research support from Sage Therapeutics. The institution of Dr. Dalmau has received research support from Edmond J.Safra Foundation . The institution of Dr. Dalmau has received research support from La Caixa Foundation. The institution of Dr. Dalmau has received research support from Spanish Ministry of Health (ISCIII). The institution of Dr. Dalmau has received research support from Euroimmun, Inc. Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. Dr. Dalmau has received publishing royalties from a publication relating to health care. Dr. Dalmau has received publishing royalties from a publication relating to health care. Dr. Dalmau has received publishing royalties from a publication relating to health care.
Takahiro Iizuka, MD (Department of Neurology, Kitasato University School of Medicine) The institution of Dr. Iizuka has received research support from EUROIMMUN Japan Co., Ltd.
Francesc R. Graus, MD (IDIBAPS) Dr. Graus has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for MedLink. Dr. Graus has received intellectual property interests from a discovery or technology relating to health care.