{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T19:24:31Z","timestamp":1790018671756,"version":"4.0.1"},"reference-count":6,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2018,7,4]],"date-time":"2018-07-04T00:00:00Z","timestamp":1530662400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2018,7,4]],"date-time":"2018-07-04T00:00:00Z","timestamp":1530662400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Neurol"],"abstract":"<jats:p>Hereditary spastic paraplegias (HSP) are a rare heterogeneous group of inherited neurodegenerative diseases characterized by progressive lower extremity spasticity and weakness. Mutations of the kinesin family member 5A (KIF5A) gene lead to a spectrum of phenotypes ranging from spastic paraplegia type 10 to Charcot-Marie Tooth Disease type 2. We report the second known case of a mutation in the KIF5A gene at c.610C&amp;#x3e;T presenting with HSP plus an axonal sensorimotor neuropathy.<\/jats:p>","DOI":"10.1159\/000490456","type":"journal-article","created":{"date-parts":[[2018,7,4]],"date-time":"2018-07-04T21:01:36Z","timestamp":1530738096000},"page":"165-168","source":"Crossref","is-referenced-by-count":7,"title":["Mutation in KIF5A c.610C&amp;#x3e;T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy"],"prefix":"10.1159","volume":"10","author":[{"given":"Mathieu","family":"Cuchanski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly\u00a0Jo","family":"Baldwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2018,7,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2014.06.011"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1086\/344210"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0840-8"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2015.02.017"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308625"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000691"}],"container-title":["Case Reports in Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/490456","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/490456","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:39:26Z","timestamp":1745426366000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000490456"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,4]]},"references-count":6,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,10,4]]}},"URL":"https:\/\/doi.org\/10.1159\/000490456","archive":["Portico"],"relation":{},"ISSN":["1662-680X"],"issn-type":[{"value":"1662-680X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,4]]}}}