Abstract
Background and purposeAntibodies to glycine receptors (GlyR‐Abs) were first defined in progressive encephalopathy with rigidity and myoclonus (PERM) but were subsequently identified in other clinical presentations. Our aim was to assess the clinical associations of all patients identified with GlyR‐Abs in Queensland, Australia, between April 2014 and May 2017 and to compare these to cases reported in the literature.MethodsA literature review identified the clinical features of all published GlyR‐Ab‐positive cases through online databases. A case series was undertaken via collection of clinical information from all patients diagnosed or known to immunology, pathology or neurological services in Queensland during the study period of 3 years.ResultsIn all, 187 GlyR‐Ab‐positive cases were identified in the literature. The majority (47.6%) had PERM, 22.4% had epilepsy, but the remaining 30% included mixed phenotypes consisting of cerebellar ataxia, movement disorders, demyelination and encephalitis/cognitive dysfunction. By contrast, in our series of 14 cases, eight had clinical presentations consistent with seizures and epilepsy and only three cases had classical features of PERM. There was one case each of global fatiguable weakness with sustained clonus, laryngeal dystonia and movement disorder with hemiballismus and tics. The rate of response to immune therapy was similar in all groups.ConclusionAntibodies to glycine receptors are linked to a spectrum of neurological disease. The results of the literature review and our case series suggest a greater relationship between GlyR‐Abs and epilepsy than previously reported.
Highlights
The spectrum of neurological disease related to autoantibodies targeting central nervous system receptors and regulatory cell surface proteins has been rapidly expanding in the last decade
Eight of 14 of our patients were suffering with epilepsy, three with a presentation consistent with progressive encephalopathy with rigidity and myoclonus (PERM) and SPS and three with a variety of other neurological syndromes
Of particular interest is the subgroup of GlyRAb-positive epilepsy patients refractory to anticonvulsant therapy, who responded well to immunotherapy
Summary
The spectrum of neurological disease related to autoantibodies targeting central nervous system receptors and regulatory cell surface proteins has been rapidly expanding in the last decade. 16 such target antigens have been identified, characterized by a wide array of clinical syndromes [1]. One such target recently identified is the post-synaptic glycine receptor (GlyR) which is distributed mainly in the spinal cord, brainstem and cerebellum. Antibodies to glycine receptors (GlyR-Abs) were first defined in progressive encephalopathy with rigidity and myoclonus (PERM) but were subsequently identified in other clinical presentations. Methods: A literature review identified the clinical features of all published GlyR-Ab-positive cases through online databases. Results: In all, 187 GlyR-Ab-positive cases were identified in the literature. The results of the literature review and our case series suggest a greater relationship between GlyR-Abs and epilepsy than previously reported
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
