Cited by 13Autoimmune Neurological Disorders and TreatmentsMyasthenia Gravis and ThymomaPeripheral Neuropathies and Disorders

Autoantibodies Blocking M3 Muscarinic Receptors Cause Postganglionic Cholinergic Dysautonomia

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Palma, Jose‐Alberto, Gupta, Achla, Sierra, Salvador, Gomes, Ivone, Balgobin, Bhumika, Norcliffe‐Kaufmann, Lucy, Devi, Lakshmi A., Kaufmann, Horacio·2020·Annals of Neurology

Abstract

A 10‐year‐old girl presented with ileus, urinary retention, dry mouth, lack of tears, fixed dilated pupils, and diffuse anhidrosis 7 days after a febrile illness. We hypothesized that her syndrome was due to autoimmunity against muscarinic acetylcholine receptors, blocking their activation. Using an indirect enzyme‐linked immunosorbent assay for all 5 muscarinic receptors (M 1–M 5), we identified in the patient's serum antibodies that selectively bound to M 3 receptors. In vitro functional studies confirmed that these autoantibodies selectively blocked M 3 receptor activation. Thus, autoantibodies against M 3 acetylcholine receptors cause acute postganglionic cholinergic dysautonomia. ANN NEUROL 2020;88:1237–1243

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Authors
Palma, J., Gupta, A., Sierra, S., Gomes, I., Balgobin, B., Norcliffe‐Kaufmann, L., Devi, L. A., & Kaufmann, H.
Affiliations
  • NYU Langone Health (US)
  • Icahn School of Medicine at Mount Sinai (US)
Corresponding author
Kaufmann, Horacio
Venue
Annals of Neurology
Publisher
Wiley
Published
2020-09-10
Volume
88
Issue
6
Pages
1237-1243
ISSN
  • 0364-5134 (ISSN-L)
  • 1531-8249
OpenAlex
W3081333330
Cited by
13
References
20
Citations by year
2026: 1 · 2025: 3 · 2024: 2 · 2023: 1 · 2022: 1 · 2021: 5
FWCI
0.76
Type
journal article
Language
en
Open access
Locations
  • Annals of Neurology (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Dysautonomia Foundation (N/A)
  • National Institute of Neurological Disorders and Stroke (R01‐NS026880, U54‐NS065736)
  • National Institute on Drug Abuse (R37‐DA008863)
Topics
  • Health Sciences › Medicine › Neurology › Autoimmune Neurological Disorders and Treatments
  • Health Sciences › Medicine › Neurology › Myasthenia Gravis and Thymoma
  • Health Sciences › Medicine › Neurology › Peripheral Neuropathies and Disorders
Keywords
M3 muscarinic receptor, autoantibodies, ileus, urinary retention, anhidrosis, xerostomia, febrile illness, pediatric patients
MeSH terms
Autoantibodies, Child, Female, Humans, Receptor, Muscarinic M3, Primary Dysautonomias

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