A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1.

Autor: Mizuno Y; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Neurology, School of Medicine, International University of Health and Welfare, Narita, Japan., Uehara T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Neurology, School of Medicine, International University of Health and Welfare, Narita, Japan.; Epilepsy and Sleep Center, Fukuoka Sanno Hospital, Fukuoka, Japan., Nakamura Y; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Neurology, Brain and Nerve Center, Fukuoka Central Hospital, International University of Health and Welfare, Fukuoka, Japan., Okadome T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Neurology, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan., Mukaino T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Koh K; Department of Neurology, Yumura Onsen Hospital, Yamanashi, Japan., Takiyama Y; Department of Neurology, Graduate School of Medical Sciences, Yamanashi University, Yamanashi, Japan.; Department of Neurology, Fuefuki Central Hospital, Yamanashi, Japan., Kanbayashi T; International Institute for Integrative Sleep Medicine (IIIS), Tsukuba University, Tsukuba, Japan.; Ibaraki Prefectural Medical Center of Psychiatry, Kasama, Japan., Isobe N; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Kira JI; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Neurology, Brain and Nerve Center, Fukuoka Central Hospital, International University of Health and Welfare, Fukuoka, Japan.; Translational Neuroscience Center, Graduate School of Medicine, and School of Pharmacy at Fukuoka, International University of Health and Welfare, Fukuoka, Japan., Murai H; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Neurology, School of Medicine, International University of Health and Welfare, Narita, Japan., Shigeto H; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Division of Medical Technology, Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Jazyk: angličtina
Zdroj: Journal of sleep research [J Sleep Res] 2024 Aug; Vol. 33 (4), pp. e14102. Date of Electronic Publication: 2023 Nov 20.
DOI: 10.1111/jsr.14102
Abstrakt: 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-onset rapid eye movement period in the multiple sleep latency test, and decreased orexin levels in cerebrospinal fluid. Both sisters had HLA-DRB1*15:01-DQB1*06:02 and were further identified to have a novel missense mutation (c.1156A > C, p.Asn386His) in the coding exon of the spastin (SPAST) 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.
(© 2023 European Sleep Research Society.)
Databáze: MEDLINE
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