{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T03:14:19Z","timestamp":1782270859351,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,17]],"date-time":"2019-10-17T00:00:00Z","timestamp":1571270400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dominant\u2010intermediate Charcot\u2013Marie\u2010Tooth neuropathy subtype C (DI\u2010CMTC) is associated with mutations in the <jats:italic>YARS<\/jats:italic> gene. The aim of this study is to investigate the long\u2010term natural history of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In a 5\u2010generation DI\u2010CMTC family, we compared data from 2016 to that of 2000 in 13 of 21 original participants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five women and 8 men were examined. While most symptoms and signs progressed, only gait progression was statistically significant (<jats:italic>P<\/jats:italic> = .016). The median CMT Neuropathy Score was 6.08 in 2000 and 11 in 2016 (<jats:italic>P<\/jats:italic> = .001). Quality of life (QOL) deteriorated in mobility (<jats:italic>P<\/jats:italic> = .008), pain\/discomfort (<jats:italic>P<\/jats:italic> = .011), and anxiety\/depression (<jats:italic>P<\/jats:italic> = .014). Median and ulnar compound muscle action potential amplitudes decreased from 9.35\u2009\u00b1\u20092.90\u2009mV to 6.0\u2009\u00b1\u20092.9\u2009mV (<jats:italic>P<\/jats:italic> = .002), and from 9.24 \u00b1\u20092.10\u2009mV to 6.06\u2009\u00b1\u20091.81\u2009mV (<jats:italic>P<\/jats:italic> = .004), respectively, whereas motor nerve conduction velocities remained unchanged.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>DI\u2010CMTC in this family is a slowly progressive disease with axonal degeneration, deteriorating mobility and QOL.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26724","type":"journal-article","created":{"date-parts":[[2019,10,6]],"date-time":"2019-10-06T08:17:10Z","timestamp":1570349830000},"page":"111-115","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Longitudinal 16\u2010year study of dominant intermediate CMT type C neuropathy"],"prefix":"10.1002","volume":"61","author":[{"given":"Yi","family":"Pan","sequence":"first","affiliation":[{"name":"Hereditary Neuropathy Foundation Center of Excellence, Department of Neurology Saint Louis University  St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jafar","family":"Kafaie","sequence":"additional","affiliation":[{"name":"Hereditary Neuropathy Foundation Center of Excellence, Department of Neurology Saint Louis University  St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian P.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Hereditary Neuropathy Foundation Center of Excellence, Department of Neurology Saint Louis University  St. Louis Missouri"},{"name":"Hereditary Neuropathy Foundation Center of Excellence, Neuroscience Institute, Department of Neurology, Hackensack University Medical Center Hackensack Meridian School of Medicine  Hackensack New Jersey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,17]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"311","article-title":"The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification","volume":"26","author":"Davis CJ","year":"1978","journal-title":"J Genet Hum."},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8474-3"},{"issue":"3","key":"e_1_2_9_4_1","first-page":"A315","article-title":"A novel autosomal dominant polyneuropathy with intermediate conduction velocities: a clinical, electrodiagnostic, morphologic and gene linkage study of 21 affected and 44 unaffected adults and children from an 8\u2010generation pedigree","volume":"56","author":"Thomas FP","year":"2001","journal-title":"Neurology."},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/379792"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1727"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7989-8"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2011.00350.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.19.12.1497"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/07853890109002087"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.37.1.68"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1385\/NMM:8:1-2:123"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000005074"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26724","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.26724","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26724","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T23:39:43Z","timestamp":1693870783000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.26724"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,17]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/mus.26724"],"URL":"https:\/\/doi.org\/10.1002\/mus.26724","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,17]]},"assertion":[{"value":"2019-07-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}