{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:27:05Z","timestamp":1745468825579,"version":"3.40.4"},"reference-count":14,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T00:00:00Z","timestamp":1613347200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T00:00:00Z","timestamp":1613347200000},"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>Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the &lt;i&gt;SPAST&lt;\/i&gt; gene, which encodes a microtubule-severing protein named spastin. Spastin regulates the number and mobility of microtubules and is essential for axonal outgrowth and neuronal morphogenesis. Herein, we report a patient with SPG4 harboring a novel donor splice site mutation in the &lt;i&gt;SPAST&lt;\/i&gt; gene (c.1616+1dupG). Although SPG4 usually manifests itself as a pure form of HSP, this patient exhibited a slow progressive cognitive decline and also developed narcolepsy type 2 (narcolepsy without cataplexy) prior to the onset of SPG4. Recently, cognitive decline has attracted attention as a main non-motor symptom of SPG4. However, this is the first reported case of a patient developing both SPG4 and narcolepsy, although it remains unclear whether the manifestation of the two diseases is a coincidence or an association. In this report, we describe the clinical symptoms and genetic background of the patient. <\/jats:p>","DOI":"10.1159\/000512404","type":"journal-article","created":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T22:09:08Z","timestamp":1613426948000},"page":"84-91","source":"Crossref","is-referenced-by-count":1,"title":["Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report"],"prefix":"10.1159","volume":"13","author":[{"given":"Takahiro","family":"Nagai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Sunami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Risa","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megumi","family":"Sugai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Takahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kentaro","family":"Ohta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidehiko","family":"Fujinaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoe","family":"Goto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Okanura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Nakajima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuo","family":"Ozawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,2,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)92879-9"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159\/000358801"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.139"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/15472"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b04c6c"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-23078-8"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.1.322"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci8080153"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq177"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl212"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/79690"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1101\/gr.GR-1610R"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm097"}],"container-title":["Case Reports in Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/512404","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/512404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:16:50Z","timestamp":1745425010000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000512404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,15]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,5,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000512404","archive":["Portico"],"relation":{},"ISSN":["1662-680X"],"issn-type":[{"type":"electronic","value":"1662-680X"}],"subject":[],"published":{"date-parts":[[2021,2,15]]}}}