{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T02:06:45Z","timestamp":1782785205198,"version":"3.54.5"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T00:00:00Z","timestamp":1700438400000},"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":["Journal of Sleep Research"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report a case of monozygotic twin sisters with hereditary spastic paraplegia type 4 (SPG4) and epilepsy, only one of whom had a diagnosis of narcolepsy type 1 (NT1). The older sister with NT1 exhibited excessive daytime sleepiness, cataplexy, sleep\u2010onset rapid eye movement period in the multiple sleep latency test, and decreased orexin levels in cerebrospinal fluid. Both sisters had <jats:italic>HLA\u2010DRB1*15:01<\/jats:italic>\u2010<jats:italic>DQB1*06:02<\/jats:italic> and were further identified to have a novel missense mutation (c.1156A\u2009&gt;\u2009C, p.Asn386His) in the coding exon of the spastin (<jats:italic>SPAST<\/jats:italic>) gene. The novel missense mutation might be involved in the development of epilepsy. This case is characterised by a combined diagnosis of SPG4 and epilepsy, and it is the first report of NT1 combined with epilepsy and genetically confirmed SPG4. The fact that only one of the twins has NT1 suggests that acquired and environmental factors are important in the pathogenesis of NT1.<\/jats:p>","DOI":"10.1111\/jsr.14102","type":"journal-article","created":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:25:01Z","timestamp":1700569501000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1"],"prefix":"10.1111","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0167-0391","authenticated-orcid":false,"given":"Yuri","family":"Mizuno","sequence":"first","affiliation":[{"name":"Department of Neurology Neurological Institute, Graduate School of Medical Sciences, Kyushu University  Fukuoka Japan"},{"name":"Department of Neurology, School of Medicine International University of Health and Welfare  Narita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taira","family":"Uehara","sequence":"additional","affiliation":[{"name":"Department of Neurology Neurological Institute, Graduate School of Medical Sciences, Kyushu University  Fukuoka Japan"},{"name":"Department of Neurology, School of Medicine International University of Health and Welfare  Narita Japan"},{"name":"Epilepsy and Sleep Center Fukuoka Sanno Hospital  Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Neurology Neurological Institute, Graduate School of Medical Sciences, Kyushu University  Fukuoka Japan"},{"name":"Department of Neurology, Brain and Nerve Center, Fukuoka Central Hospital International University of Health and Welfare  Fukuoka 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Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihisa","family":"Takiyama","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Yamanashi University  Yamanashi Japan"},{"name":"Department of Neurology Fuefuki Central Hospital  Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9815-706X","authenticated-orcid":false,"given":"Takashi","family":"Kanbayashi","sequence":"additional","affiliation":[{"name":"International Institute for Integrative Sleep Medicine (IIIS), Tsukuba University  Tsukuba Japan"},{"name":"Ibaraki Prefectural Medical Center of Psychiatry  Kasama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Isobe","sequence":"additional","affiliation":[{"name":"Department of Neurology Neurological Institute, Graduate School of Medical Sciences, Kyushu University  Fukuoka 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