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Association of Lambert-Eaton Myasthenic Syndrome and First Episode Psychosis: A Case Report.
J Psychiatr Pract
January 2025
Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht University, Maastricht, The Netherlands.
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune neuromuscular junction disorder characterized by proximal weakness, autonomic dysfunction, and areflexia associated with antibodies against voltage-gated calcium channels (VGCCs). Psychotic symptoms can occur in many autoimmune neurological disorders but they have rarely been observed in myasthenic syndromes. We report the case of a 21-year-old woman with primary autoimmune LEMS due to anti-VGCC antibodies subtype P/Q, who developed psychotic symptoms 3 years after the onset of motor symptoms.
View Article and Find Full Text PDFBiallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.
Clin Dysmorphol
January 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.
View Article and Find Full Text PDFLate onset cerebellar ataxia syndrome after non-paraneoplastic Lambert-Eaton myasthenic syndrome: a case study.
BMC Neurol
January 2025
Neuromuscular Neurology, Advocate Health, 1850 Dempster Street, Park Ridge, IL, 60068, USA.
This is an unusual case of voltage gated calcium channel (VGCC) antibodies leading to two distinct and chronologically separated neurologic syndromes without the presence of an underlying neoplasm. Lambert Eaton Myasthenic Syndrome (LEMS) presented five years prior to cerebellar ataxia. Both LEMS and cerebellar ataxia were responsive to treatment, but not the same therapy.
View Article and Find Full Text PDFAn α7 nicotinic and GABA receptor-mediated pathway controls acetylcholine release in the tripartite neuromuscular junction.
J Physiol
January 2025
Université Paris Cité, CNRS, ENS Paris Saclay, Centre Borelli UMR 9010, Paris, France.
Terminal Schwann cells (TSCs) are capable of regulating acetylcholine (ACh) release at the neuromuscular junction (NMJ). We have identified GABA as a gliotransmitter at mouse NMJs. When ACh activates α7 nicotinic ACh receptor (nAChRs) on TSCs, GABA is released and activates GABA receptors on the nerve terminal that subsequently reduce ACh release.
View Article and Find Full Text PDFClinical presentations, electrophysiologic features, and long-term follow-up in Lambert-Eaton myasthenic syndrome: a series of six patients.
Front Neurol
December 2024
Department of Internal Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Background: Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder of the presynaptic neuromuscular junction associated with antibody mediated dysfunction of voltage-gated calcium channels (VGCCs). LEMS can exist as a paraneoplastic syndrome, paraneoplastic-LEMS (P-LEMS), when associated with tumors, most commonly, small cell lung carcinoma (SCLC) or as a non-paraneoplastic condition (NP-LEMS) when no malignancies are detected.
Methods: A retrospective chart review was conducted in 3 tertiary hospitals in Saudi Arabia for patients diagnosed with LEMS between January 2010 and January 2020.
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