α7-Acetylcholine receptor antibodies in two patients with Rasmussen encephalitis

Watson, Robert; Jepson, James E.C.; Bermúdez, Isabel; Alexander, Samantha; Hart, Yvonne; McKnight, K; Roubertie, Agathe; Fecto, Faisal; Valmier, Jean; Sattelle, D. B.; Beeson, David; Vincent, Angela; Lang, Bethan

doi:10.1212/01.wnl.0000191566.86977.04

Cited by 69 publications

(38 citation statements)

References 11 publications

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“…Such antibodies act against neuronal acetylcholine receptors in the autonomic ganglia and are frequently found in patients with autoimmune autonomic ganglionopathy. Additionally, two rare cases of Rasmussen encephalitis with α7 AChR antibodies have been reported (46). It has also been reported that a low titer of gAChR antibodies is detected in the serum in a small number of patients with POTS (32).…”

Section: Etiologymentioning

confidence: 97%

Peripheral Sympathetic Nerve Dysfunction in Adolescent Japanese Girls Following Immunization with the Human Papillomavirus Vaccine

et al. 2014

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Objective To investigate the causes of neurological manifestations in girls immunized with the human papillomavirus (HPV) vaccine. Methods During the past nine months, 44 girls visited us complaining of several symptoms after HPV vaccination. Four patients with other proven disorders were excluded, and the remaining forty subjects were enrolled in this study. Results The age at initial vaccination ranged from 11 to 17 years, and the average incubation period after the first dose of the vaccine was 5.47±5.00 months. Frequent manifestations included headaches, general fatigue, coldness of the legs, limb pain and weakness. The skin temperature examined in 28 girls with limb symptoms exhibited a slight decrease in the fingers (30.4±2.6 ) and a moderate decrease in the toes (27.1± 3.7 ). Digital plethysmograms revealed a reduced height of the waves, especially in the toes. The limb symptoms of four girls were compatible with the Japanese clinical diagnostic criteria for complex regional pain syndrome (CRPS), while those in the other 14 girls were consistent with foreign diagnostic criteria for CRPS. The Schellong test identified eight patients with orthostatic hypotension and four patients with postural orthostatic tachycardia syndrome. The girls with orthostatic intolerance and CRPS commonly experienced transient violent tremors and persistent asthenia. Electron-microscopic examinations of the intradermal nerves showed an abnormal pathology in the unmyelinated fibers in two of the three girls examined. Conclusion The symptoms observed in this study can be explained by abnormal peripheral sympathetic responses. The most common previous diagnosis in the studied girls was psychosomatic disease. The social problems of the study participants remained unresolved in that the severely disabled girls stopped going to school.

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Section: Etiologymentioning

confidence: 97%

Peripheral Sympathetic Nerve Dysfunction in Adolescent Japanese Girls Following Immunization with the Human Papillomavirus Vaccine

et al. 2014

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“…However, further studies failed to support these findings; anti-GluR3 antibodies were infrequently found in RE or intractable epilepsies (Wiendl et al 2001;Watson et al 2004) and few patients showed sustained clinical improvement following plasmapheresis (Andrews et al 1996;Granata et al 2003). Additionally, antibodies against a number of other autoantigens, such as the a7-nicotinic receptor or Munc-18-1, have been reported in sera of a few RE patients (Watson et al 2005;Alvarez-Baron et al 2008), and the relevance of these antibodies is questionable. However, the presence of autoantibodies suggests that there is activation of the adaptive immune system and may be a secondary phenomenon following the intervention of cytotoxic T lymphocytes into the brain.…”

Section: Rementioning

confidence: 99%

Immunity and Inflammation in Epilepsy

Vezzani

Lang

Aronica

2015

Cold Spring Harb Perspect Med

192

145

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This review reports the available evidence on the activation of the innate and adaptive branches of the immune system and the related inflammatory processes in epileptic disorders and the putative pathogenic role of inflammatory processes developing in the brain, as indicated by evidence from experimental and clinical research. Indeed, there is increasing knowledge supporting a role of specific inflammatory mediators and immune cells in the generation and recurrence of epileptic seizures, as well as in the associated neuropathology and comorbidities. Major challenges in this field remain: a better understanding of the key inflammatory pathogenic pathways activated in chronic epilepsy and during epileptogenesis, and how to counteract them efficiently without altering the homeostatic tissue repair function of inflammation. The relevance of this information for developing novel therapies will be highlighted.

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“…13 However, these antibodies have not been consistently demonstrated in all patients with RE, 14 and their presence could also be demonstrated in other forms of severe epilepsy, 15 suggesting that they may reflect responses to injured CNS tissue. Subsequently, serum IgG autoantibodies against a7 nicotinic acetylcholine receptors (a7nAChR) were reported in a subset of patients with RE and described as specifically blocking the function of the neuronal a7nAChR, 16 an inflammatory regulator thought to play a role in blood-brain barrier regulation, which is likely to be damaged in RE. 17,18 In 2 independent studies, serum antibodies against the presynaptic SM (Sec1/Munc18-like) protein Munc-18 were found in a subset of patients with RE during early disease stages, with description of altered neurotransmitter release.…”

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confidence: 99%

Rasmussen encephalitis and comorbid autoimmune diseases

et al. 2014

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Objective: To describe a potential association between comorbid autoimmune disease and Rasmussen encephalitis (RE) and discuss potential insights into underlying RE pathogenesis. Methods:We report a case series of 4 patients with RE in whom a comorbid autoimmune disease was subsequently diagnosed and review the literature on possible common susceptibility factors.Results: In 4 patients who presented with typical clinical features of RE, a comorbid autoimmune disease was subsequently diagnosed: Hashimoto thyroiditis, ulcerative colitis, Crohn disease, and systemic lupus erythematosus. We discuss the possible common predisposing factors. Conclusions:The association of RE, a rare entity, with a comorbid autoimmune disease raises the possibility of shared mechanisms of susceptibility, including common immunogenetic and/or environmental risk factors. Neurology ® 2014;83:1049-1055 GLOSSARY a7nAChR 5 a7 nicotinic acetylcholine receptors; AID 5 autoimmune disease; ANA 5 antinuclear antibodies; CD 5 Crohn disease; GWAS 5 genome-wide association studies; HT 5 Hashimoto thyroiditis; Ig 5 immunoglobulin; IVIg 5 IV immunoglobulin; RE 5 Rasmussen encephalitis; SLE 5 systemic lupus erythematosus; T1D 5 type 1 diabetes; UC 5 ulcerative colitis.

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α7-Acetylcholine receptor antibodies in two patients with Rasmussen encephalitis

Cited by 69 publications

References 11 publications

Peripheral Sympathetic Nerve Dysfunction in Adolescent Japanese Girls Following Immunization with the Human Papillomavirus Vaccine

Peripheral Sympathetic Nerve Dysfunction in Adolescent Japanese Girls Following Immunization with the Human Papillomavirus Vaccine

Immunity and Inflammation in Epilepsy

Rasmussen encephalitis and comorbid autoimmune diseases

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