A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1
Yuri Mizuno,
Taira Uehara,
Yuri Nakamura
et al.
Abstract:SummaryWe 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) i… Show more
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