{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:24Z","timestamp":1740164124503,"version":"3.37.3"},"reference-count":7,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U54NS065712"],"award-info":[{"award-number":["U54NS065712"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["U54NS065712"],"award-info":[{"award-number":["U54NS065712"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002721","name":"Charcot Marie Tooth Association","doi-asserted-by":"crossref","award":["U54NS065712"],"award-info":[{"award-number":["U54NS065712"]}],"id":[{"id":"10.13039\/100002721","id-type":"DOI","asserted-by":"crossref"}]},{"name":"MDA Clinical Research Training Grant","award":["U54NS065712"],"award-info":[{"award-number":["U54NS065712"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p><jats:italic>Introduction<\/jats:italic>. Hereditary Spastic Paraplegia (HSP) is a rare hereditary disorder that primarily involves progressive spasticity of the legs (hamstrings, quadriceps, and calves).<jats:italic>Methods<\/jats:italic>. A 27-year-old gentleman was a fast runner and able to play soccer until age 9 when he developed slowly progressive weakness. He was wheelchair-bound by age 25. He was evaluated by laboratory testing, imaging, electrodiagnostics, and molecular genetics.<jats:italic>Results<\/jats:italic>. Electrodiagnostic testing revealed an axonal sensorimotor polyneuropathy. Genetic testing for HSP in 2003 was negative; repeat testing in 2013 revealed a mutation in KIF5A (c.611G&gt;A;p.Arg204Gln).<jats:italic>Conclusions<\/jats:italic>. A recent advance in neurogenetics has allowed for more genes and mutations to be identified; over 76 different genetic loci for HSP and 59 gene products are currently known. Even though our patient had a sensorimotor polyneuropathy on electrodiagnostic testing and a 2003 HSP genetic panel that was negative, a repeat HSP genetic panel was performed in 2013 due to the advancement in neurogenetics. This revealed a mutation in<jats:italic>KIF5A<\/jats:italic>.<\/jats:p>","DOI":"10.1155\/2015\/496053","type":"journal-article","created":{"date-parts":[[2015,10,13]],"date-time":"2015-10-13T14:44:16Z","timestamp":1444747456000},"page":"1-5","source":"Crossref","is-referenced-by-count":2,"title":["Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in<i>KIF5A<\/i>(c.611G&gt;A;p.Arg204Gln)"],"prefix":"10.1155","volume":"2015","author":[{"given":"Nivedita U.","family":"Jerath","sequence":"first","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiffany","family":"Grider","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael E.","family":"Shy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2015.02.017"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01717.x"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20920"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-062111-150400"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000138731.60693.d2"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn014"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000000691"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/496053.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/496053.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/496053.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T15:47:08Z","timestamp":1469634428000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2015\/496053\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":7,"alternative-id":["496053","496053"],"URL":"https:\/\/doi.org\/10.1155\/2015\/496053","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"type":"print","value":"2090-6544"},{"type":"electronic","value":"2090-6552"}],"subject":[],"published":{"date-parts":[[2015]]}}}