{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:09:20Z","timestamp":1745554160994,"version":"3.40.4"},"reference-count":6,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"published-print":{"date-parts":[[2004]]},"abstract":"<jats:p>Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by insensitivity to pain, anhidrosis, recurrent hyperpyrexia, mild mental retardation, and self-mutilating behavior. We report 2 brothers, aged 20 and 18 years, who suffered from phenotypes of CIPA. Both brothers had a branch site mutation in intron 7 (IVS7-33 T\u2192A) of the neurotrophic tyrosine kinase receptor type 1 gene. The electrophysiological studies showed no significant abnormal findings in sensory evoked potentials, motor evoked potentials to transcranial magnetic stimulation, or heart rate variations; sympathetic skin responses were absent. Morphometric study of their sural nerve histopathology revealed normal myelinated fiber density, 8,082 fibers\/mm&lt;sup&gt;2&lt;\/sup&gt; and 5,637 fibers\/mm&lt;sup&gt;2 &lt;\/sup&gt;(normal 6,141 \u00b1 421); decreased unmyelinated fiber density, 2,537 fibers\/mm&lt;sup&gt;2&lt;\/sup&gt; and 2,211 fibers\/mm&lt;sup&gt;2&lt;\/sup&gt; (normal 28,578 \u00b1 8,669); increased axon size, 4.41 \u00b1 1.59 \u00b5m and 5.33 \u00b1 1.48 \u00b5m (normal 3.73 \u00b1 1.45), and increased axon diameter (A)\/myelin thickness (M) ratio (A\/M), 3.47 \u00b1 1.42 and 2.70 \u00b1 1.07 (normal 2.49 \u00b1 0.93). Scatterplot analysis of the G ratio (axon diameter:fiber diameter) did not show consistent results in the relationship between axon size and myelin thickness. In conclusion, the neuropathy of our CIPA patients included a marked reduction of small myelinated and unmyelinated fibers and a relatively increased axon size. This is the first CIPA family encountered in Taiwan.<\/jats:p>","DOI":"10.1159\/000078487","type":"journal-article","created":{"date-parts":[[2004,5,19]],"date-time":"2004-05-19T08:42:44Z","timestamp":1084956164000},"page":"206-214","source":"Crossref","is-referenced-by-count":13,"title":["Congenital Insensitivity to Pain with Anhidrosis in Taiwan: A Morphometric and Genetic Study"],"prefix":"10.1159","volume":"51","author":[{"given":"Yuh-Cherng","family":"Guo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwong-Kum","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing-Wen","family":"Soong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ching-Piao","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsiang-Ying","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kon-Ping","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2004,6,24]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1224"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-485"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90091-4"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1086\/302422"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2001.104002105.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051018"}],"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/78487","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/78487","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:14:40Z","timestamp":1745464480000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000078487"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004]]},"references-count":6,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2004,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000078487","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"type":"print","value":"0014-3022"},{"type":"electronic","value":"1421-9913"}],"subject":[],"published":{"date-parts":[[2004]]}}}