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Peripheral sensory neuropathies – pain loss vs. pain gain

Cox, J; Woods, CG; Kurth, I; (2020) Peripheral sensory neuropathies – pain loss vs. pain gain. Medizinische Genetik , 32 (3) pp. 233-241. 10.1515/medgen-2020-2039. Green open access

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Abstract

Peripheral sensory neurons are afferent neurons that innervate the skin, joints, bones, muscles, and mucosal tissues. By converting different stimuli into action potentials, they transmit signals for the sensing of temperature, touch, pressure, or pain. This review discusses the known Mendelian disorders which affect pain sensing in humans. For painlessness, these disorders can be classified as developmental, neurodegenerative, or functional, where pain-sensing neurons (nociceptors) are present but cannot be activated or produce action potentials. Affected patients suffer from numbness with recurrent injuries, burns, and poorly healing wounds. For Mendelian disorders of excess pain, aberrant overactivity of nociceptors is a hallmark and leads to paroxysmal or continuous pain states. Again, the effect can be functional or, as in small fiber neuropathies, can be accompanied by degeneration of small unmyelinated nerve fibers in the skin. About 20 different genes are known to cause Mendelian pain disorders and the molecules involved are of general interest for human pain research and as analgesic targets. Comprehensive genetic testing is the key to early diagnosis and adaptation of clinical management.

Type: Article
Title: Peripheral sensory neuropathies – pain loss vs. pain gain
Open access status: An open access version is available from UCL Discovery
DOI: 10.1515/medgen-2020-2039
Publisher version: https://www.degruyter.com/view/journals/medgen/32/...
Language: English
Additional information: © 2020 Cox et al., published by De Gruyter. This work is licensed under the Creative Commons Attribution 4.0 International License. BY 4.0
Keywords: hereditary sensory and autonomic neuropathy; congenital insensitivity to pain; small fiber neuropathy; sodium channels
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Wolfson Inst for Biomedical Research
URI: https://discovery.ucl.ac.uk/id/eprint/10115093
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