Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.
Neurogenetics
; 25(2): 79-83, 2024 Apr.
Article
en En
| MEDLINE
| ID: mdl-38240911
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Linaje
/
Narcolepsia
Tipo de estudio:
Risk_factors_studies
Límite:
Adolescent
/
Adult
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Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurogenetics
Asunto de la revista:
GENETICA
/
NEUROLOGIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Arabia Saudita