{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T08:05:16Z","timestamp":1775981116852,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,4,8]],"date-time":"2023-04-08T00:00:00Z","timestamp":1680912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001594","name":"Dysautonomia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001594","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["physoc.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Physiology"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary sensory and autonomic neuropathy type III (HSAN III), also known as familial dysautonomia or Riley\u2013Day syndrome, results from an autosomal recessive genetic mutation that causes a selective loss of specific sensory neurones, leading to greatly elevated pain and temperature thresholds, poor proprioception, marked ataxia and disturbances in blood pressure control. Stretch reflexes are absent throughout the body, which can be explained by the absence of functional muscle spindle afferents \u2013 assessed by intraneural microelectrodes inserted into peripheral nerves in the upper and lower limbs. This also explains the greatly compromised proprioception at the knee joint, as assessed by passive joint\u2010angle matching. Moreover, there is a tight correlation between loss of proprioceptive acuity at the knee and the severity of gait impairment. Surprisingly, proprioception is normal at the elbow, suggesting that participants are relying more on sensory cues from the overlying skin; microelectrode recordings have shown that myelinated tactile afferents in the upper and lower limbs appear to be normal. Nevertheless, the lack of muscle spindles does affect sensorimotor control in the upper limb: in addition to poor performance in the finger\u2010to\u2010nose test, manual performance in the Purdue pegboard task is much worse than in age\u2010matched healthy controls. Unlike those rare individuals with large\u2010fibre sensory neuropathy, in which both muscle spindle and cutaneous afferents are absent, those with HSAN III present as a means of assessing sensorimotor control following the selective loss of muscle spindle afferents.<\/jats:p>","DOI":"10.1113\/ep090768","type":"journal-article","created":{"date-parts":[[2023,4,8]],"date-time":"2023-04-08T11:24:21Z","timestamp":1680953061000},"page":"27-34","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Sensorimotor control in the congenital absence of functional muscle spindles"],"prefix":"10.1113","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3325-6566","authenticated-orcid":false,"given":"Vaughan G.","family":"Macefield","sequence":"first","affiliation":[{"name":"Department of Neuroscience Monash University  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyndon J.","family":"Smith","sequence":"additional","affiliation":[{"name":"School of Medicine Western Sydney University  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucy","family":"Norcliffe\u2010Kaufmann","sequence":"additional","affiliation":[{"name":"Dysautonomia Center, Department of Neurology New York University School of Medicine  New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose\u2010Alberto","family":"Palma","sequence":"additional","affiliation":[{"name":"Dysautonomia Center, Department of Neurology New York University School of Medicine  New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Horacio","family":"Kaufmann","sequence":"additional","affiliation":[{"name":"Dysautonomia Center, Department of Neurology New York University School of Medicine  New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1971.00480320034003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21856"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/318808"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s102860200014"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-009-5293-1"},{"issue":"1","key":"e_1_2_6_7_1","first-page":"100","article-title":"There and back again: 50 years of wandering through terra incognita fusorum","volume":"109","author":"Banks R. 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