Narcolepsy with cataplexy is a complex disease with both genetic and environmental risk factors. To gain further insight into the homozygous HCRT-related narcolepsy, we present a case series of five patients from two consanguineous families, each harboring a novel homozygous variant of HCRT c.17_18del. All affected individuals exhibited severe cataplexy accompanied by narcolepsy symptoms during infancy. Additionally, cataplexy symptoms improved or disappeared in the majority of patients over time. Pathogenic variants in HCRT cause autosomal recessive narcolepsy with cataplexy. Genetic testing of the HCRT gene should be conducted in specific subgroups of narcolepsy, particularly those with early onset, familial cases, and a predominantly cataplexy phenotype.

发作性睡病伴猝倒是一种复杂的疾病，具有遗传和环境危险因素。为了进一步了解纯合HCRT相关嗜睡病，我们提出了来自两个近亲家庭的 5 名患者的病例系列，每名患者都携带HCRT c.17_18del 的新型纯合变异。所有受影响的个体在婴儿期均表现出严重的猝倒并伴有发作性睡病症状。此外，随着时间的推移，大多数患者的猝倒症状得到改善或消失。HCRT 的致病变异可导致常染色体隐性遗传性嗜睡症伴猝倒。HCRT基因的基因检测应在发作性睡病的特定亚组中进行，特别是那些早发、家族性病例和以猝倒表型为主的亚组。