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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
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM, Palace J, Beeson D
Int J Mol Sci 2018 Jun 5;19(6) doi: 10.3390/ijms19061677. PMID: 29874875Free PMC Article
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
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

Diagnosis

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
The Role of Chemokines in the Pathophysiology of Major Depressive Disorder.
Milenkovic VM, Stanton EH, Nothdurfter C, Rupprecht R, Wetzel CH
Int J Mol Sci 2019 May 9;20(9) doi: 10.3390/ijms20092283. PMID: 31075818Free 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
Neurologic disorders of mineral metabolism and parathyroid disease.
Agrawal L, Habib Z, Emanuele NV
Handb Clin Neurol 2014;120:737-48. doi: 10.1016/B978-0-7020-4087-0.00049-8. PMID: 24365349
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

Therapy

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
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

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 neurophysiology of generalized polyneuropathy.
Albers JW
J Clin Neurophysiol 1993 Apr;10(2):149-66. doi: 10.1097/00004691-199304000-00003. PMID: 8389380

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
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
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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