Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes

The clinical associations of glycine receptor antibodies have not yet been described fully. We identified prospectively 52 antibody-positive patients and collated their clinical features, investigations and immunotherapy responses. Serum glycine receptor antibody endpoint titres ranged from 1:20 to...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2014-08, Vol.137 (Pt 8), p.2178-2192
Hauptverfasser:	CARVAJAL-GONZALEZ, Alexander, LEITE, M. Isabel, PRESS, Raomand, LUNN, Michael P, MING LIM, MADDISON, Paul, MEINCK, H.-M, VANDENBERGHE, Wim, VINCENT, Angela, WATERS, Patrick, WOODHALL, Mark, COUTINHO, Ester, BALINT, Bettina, BETHAN LANG, PETTINGILL, Philippa, CARR, Aisling, SHEERIN, Una-Marie
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Animals Antibodies - blood Antibodies - cerebrospinal fluid Biological and medical sciences Cerebrospinal fluid. Meninges. Spinal cord Child Child, Preschool Comorbidity Diseases of striated muscles. Neuromuscular diseases Encephalomyelitis - drug therapy Encephalomyelitis - epidemiology Encephalomyelitis - immunology Encephalomyelitis - physiopathology Epilepsies, Myoclonic - epidemiology Female Glutamate Decarboxylase - immunology HEK293 Cells Humans Infant Male Medical sciences Medicin och hälsovetenskap Middle Aged Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Muscle Rigidity - drug therapy Muscle Rigidity - epidemiology Muscle Rigidity - immunology Muscle Rigidity - physiopathology Myoclonus - drug therapy Myoclonus - epidemiology Myoclonus - immunology Myoclonus - physiopathology Neoplasms - epidemiology Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Original Outcome Assessment, Health Care Potassium Channels, Voltage-Gated - immunology Prospective Studies Rats Receptors, Glycine - immunology Stiff-Person Syndrome - drug therapy Stiff-Person Syndrome - epidemiology Stiff-Person Syndrome - immunology Stiff-Person Syndrome - physiopathology Syndrome Young Adult
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Zusammenfassung:	The clinical associations of glycine receptor antibodies have not yet been described fully. We identified prospectively 52 antibody-positive patients and collated their clinical features, investigations and immunotherapy responses. Serum glycine receptor antibody endpoint titres ranged from 1:20 to 1:60 000. In 11 paired samples, serum levels were higher than (n = 10) or equal to (n = 1) cerebrospinal fluid levels; there was intrathecal synthesis of glycine receptor antibodies in each of the six pairs available for detailed study. Four patients also had high glutamic acid decarboxylase antibodies (>1000 U/ml), and one had high voltage-gated potassium channel-complex antibody (2442 pM). Seven patients with very low titres (
ISSN:	0006-8950 1460-2156 1460-2156
DOI:	10.1093/brain/awu142