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Abnormal peripheral nervous system synaptic transmission

MedGen UID:
866699
•Concept ID:
C4021046
•
Anatomical Abnormality
Synonym: Abnormal PNS synaptic transmission
 
HPO: HP:0030191

Definition

An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. [from HPO]

Professional guidelines

PubMed

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.
McMacken G, Whittaker RG, Wake R, Lochmuller H, Horvath R
J Neurol 2023 Jun;270(6):3112-3119. Epub 2023 Mar 4 doi: 10.1007/s00415-023-11643-z. PMID: 36869887Free PMC Article
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Conduction block and abnormal temporal dispersion--diagnostic criteria.
Weber F
Electromyogr Clin Neurophysiol 1997 Aug;37(5):305-9. PMID: 9298343

Recent clinical studies

Etiology

Glial Cell Modulation of Dendritic Spine Structure and Synaptic Function.
Rasia-Filho AA, Calcagnotto ME, von Bohlen Und Halbach O
Adv Neurobiol 2023;34:255-310. doi: 10.1007/978-3-031-36159-3_6. PMID: 37962798
Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM, Palace J, Beeson D
Curr Opin Neurol 2014 Oct;27(5):566-75. doi: 10.1097/WCO.0000000000000134. PMID: 25159927
Cardiac neurotransmission imaging.
Carrió I
J Nucl Med 2001 Jul;42(7):1062-76. PMID: 11438630

Diagnosis

Congenital myasthenic syndromes.
Beeson D
Handb Clin Neurol 2024;203:69-88. doi: 10.1016/B978-0-323-90820-7.00013-6. PMID: 39174255
Congenital myasthenic syndromes: where do we go from here?
Ramdas S, Beeson D
Neuromuscul Disord 2021 Oct;31(10):943-954. doi: 10.1016/j.nmd.2021.07.400. PMID: 34736634
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Pathobiology of neuropathic pain.
Zimmermann M
Eur J Pharmacol 2001 Oct 19;429(1-3):23-37. doi: 10.1016/s0014-2999(01)01303-6. PMID: 11698024
Glossopharyngeal neuralgia.
Bruyn GW
Cephalalgia 1983 Sep;3(3):143-57. doi: 10.1046/j.1468-2982.1983.0303143.x. PMID: 6313200

Therapy

Electroretinographic abnormalities associated with pregabalin: a case report.
Ninomiya W, Mizobuchi K, Hayashi T, Okude S, Katagiri S, Kubo A, Masuhara N, Nakano T
Doc Ophthalmol 2020 Jun;140(3):279-287. Epub 2020 Jan 3 doi: 10.1007/s10633-019-09743-1. PMID: 31900741
Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Electrophysiological correlates of intermediate syndrome following acute organophosphate poisoning.
Jayawardane P, Senanayake N, Dawson A
Clin Toxicol (Phila) 2009 Mar;47(3):193-205. doi: 10.1080/15563650902832608. PMID: 19306190
A noradrenergic and serotonergic hypothesis of the linkage between epilepsy and affective disorders.
Jobe PC, Dailey JW, Wernicke JF
Crit Rev Neurobiol 1999;13(4):317-56. doi: 10.1615/critrevneurobiol.v13.i4.10. PMID: 11028680

Prognosis

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D
Brain 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. PMID: 31081514Free PMC Article
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
Selcen D, Ohkawara B, Shen XM, McEvoy K, Ohno K, Engel AG
JAMA Neurol 2015 Aug;72(8):889-96. doi: 10.1001/jamaneurol.2015.0853. PMID: 26052878Free PMC Article
Updating the mild encephalitis hypothesis of schizophrenia.
Bechter K
Prog Neuropsychopharmacol Biol Psychiatry 2013 Apr 5;42:71-91. Epub 2012 Jul 3 doi: 10.1016/j.pnpbp.2012.06.019. PMID: 22765923
Cardiac neurotransmission imaging.
Carrió I
J Nucl Med 2001 Jul;42(7):1062-76. PMID: 11438630
Glutamate uptake.
Danbolt NC
Prog Neurobiol 2001 Sep;65(1):1-105. doi: 10.1016/s0301-0082(00)00067-8. PMID: 11369436

Clinical prediction guides

The etiological contribution of GABAergic plasticity to the pathogenesis of neuropathic pain.
Li C, Lei Y, Tian Y, Xu S, Shen X, Wu H, Bao S, Wang F
Mol Pain 2019 Jan-Dec;15:1744806919847366. doi: 10.1177/1744806919847366. PMID: 30977423Free PMC Article
Updating the mild encephalitis hypothesis of schizophrenia.
Bechter K
Prog Neuropsychopharmacol Biol Psychiatry 2013 Apr 5;42:71-91. Epub 2012 Jul 3 doi: 10.1016/j.pnpbp.2012.06.019. PMID: 22765923
Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction.
Shi L, Fu AK, Ip NY
Trends Neurosci 2012 Jul;35(7):441-53. Epub 2012 May 25 doi: 10.1016/j.tins.2012.04.005. PMID: 22633140
Review article: serotonin receptors and transporters -- roles in normal and abnormal gastrointestinal motility.
Gershon MD
Aliment Pharmacol Ther 2004 Nov;20 Suppl 7:3-14. doi: 10.1111/j.1365-2036.2004.02180.x. PMID: 15521849
Pathobiology of neuropathic pain.
Zimmermann M
Eur J Pharmacol 2001 Oct 19;429(1-3):23-37. doi: 10.1016/s0014-2999(01)01303-6. PMID: 11698024

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