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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
Tinnitus dyssynchrony-synchrony theory: a translational concept for diagnosis and treatment.
Shulman A, Goldstein B
Int Tinnitus J 2006;12(2):101-14. PMID: 17260875

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
Cardiac neurotransmission imaging.
Carrió I
J Nucl Med 2001 Jul;42(7):1062-76. PMID: 11438630
Ataxia-teleangectasia: neurophysiological studies in 8 patients.
Lelli S, Trevisan C, Negrin P
Electromyogr Clin Neurophysiol 1995 Aug-Sep;35(5):311-5. PMID: 7498077

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: 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
Electromyography in disorders of neuromuscular transmission.
Massey JM
Semin Neurol 1990 Mar;10(1):6-11. doi: 10.1055/s-2008-1041247. PMID: 2161127
Glossopharyngeal neuralgia.
Bruyn GW
Cephalalgia 1983 Sep;3(3):143-57. doi: 10.1046/j.1468-2982.1983.0303143.x. PMID: 6313200
Electrodiagnosis in neuromuscular disorders.
Warmolts JR
Ann Intern Med 1981 Nov;95(5):599-608. doi: 10.7326/0003-4819-95-5-599. PMID: 6271031

Therapy

Electrophysiological abnormalities of the neuromuscular transmission in two patients with botulism-like syndrome following Botulinum-A muscle injections.
Theuriet J, Huchon L, Luaute J, Vallet AE, Bouhour F, Pegat A
Neurophysiol Clin 2024 Jul;54(4):102984. Epub 2024 May 17 doi: 10.1016/j.neucli.2024.102984. PMID: 38759365
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
Advanced research on dopamine signaling to develop drugs for the treatment of mental disorders: regulation of dopaminergic neural transmission by tyrosine hydroxylase protein at nerve terminals.
Sumi-Ichinose C, Ichinose H, Ikemoto K, Nomura T, Kondo K
J Pharmacol Sci 2010;114(1):17-24. Epub 2010 Aug 12 doi: 10.1254/jphs.09r28fm. PMID: 20716859
Botulinum toxin therapy: distant effects on neuromuscular transmission and autonomic nervous system.
Girlanda P, Vita G, Nicolosi C, Milone S, Messina C
J Neurol Neurosurg Psychiatry 1992 Sep;55(9):844-5. doi: 10.1136/jnnp.55.9.844. PMID: 1328540Free PMC Article

Prognosis

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
Ataxia-teleangectasia: neurophysiological studies in 8 patients.
Lelli S, Trevisan C, Negrin P
Electromyogr Clin Neurophysiol 1995 Aug-Sep;35(5):311-5. PMID: 7498077
Diphtheritic neuropathy, an analysis based on muscle and nerve biopsy and repeated neurophysiological and autonomic function tests.
Solders G, Nennesmo I, Persson A
J Neurol Neurosurg Psychiatry 1989 Jul;52(7):876-80. doi: 10.1136/jnnp.52.7.876. PMID: 2549201Free PMC Article
Neuromuscular transmission in thyrotoxicosis.
Puvanendran K, Cheah JS, Naganathan N, Yeo PP, Wong PK
J Neurol Sci 1979 Sep;43(1):47-57. doi: 10.1016/0022-510x(79)90072-8. PMID: 230318

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
Serial quantitative electrophysiologic studies in sporadic inclusion body myositis.
Barkhaus PE, Nandedkar SD
Electromyogr Clin Neurophysiol 2007 Mar-Apr;47(2):97-104. PMID: 17479726
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
A clinical, electrophysiological, morphological and immunological study of chronic sensory neuropathy with ataxia and paraesthesia.
Mamoli A, Nemni R, Camerlingo M, Quattrini A, Castro L, Lorenzetti I, Canal N
Acta Neurol Scand 1992 Feb;85(2):110-5. doi: 10.1111/j.1600-0404.1992.tb04008.x. PMID: 1315474
Local cooling in myasthenia. Improvement of neuromuscular failure.
Borenstein S, Desmedt JE
Arch Neurol 1975 Mar;32(3):152-7. doi: 10.1001/archneur.1975.00490450032003. PMID: 164165

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