Whole-genome analysis of monozygotic Brazilian twins discordant for type 1 narcolepsy: a case report.

ABSTRACT:

Background

Narcolepsy type 1 (NT1) is a rare and chronic neurological disease characterized by sudden sleep attacks, overwhelming daytime drowsiness, and cataplexy. When associated with a sudden loss of muscle tone (cataplexy) narcolepsy is classified as type 1, while the absence of cataplexy indicates type 2. Genetic, degenerative, and immunological hypotheses to explain the pathophysiology of NT1 are still a matter of debate. To contribute to the understanding of NT1 genetic basis, here we describe, for the first time, a whole genome analysis of a monozygotic twin pair discordant for NT1.

Case presentation

We present the case of a pair of 17-year-old male, monozygotic twins discordant for NT1. The affected twin had Epworth Sleepiness Scale (ESS) of 20 (can range from 0 to

SUBMITTER: Campos JHC 

PROVIDER: S-EPMC9673436 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature