Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway
2004; Elsevier BV; Volume: 363; Issue: 9416 Linguagem: Inglês
10.1016/s0140-6736(04)15951-5
ISSN1474-547X
AutoresRamin Khatami, Stéphanie Maret, Esther Werth, Julia Rétey, D Schmid, Friedrich E. Maly, Mehdi Tafti, Claudio L. Bassetti,
Tópico(s)Regulation of Appetite and Obesity
ResumoNarcolepsy with cataplexy is thought to be a hypocretin ligand or hypocretin receptor deficiency syndrome caused by genetic and environmental factors. We looked for an abnormality of the hypocretin pathway in HLA-DQB1*0602-positive monozygotic twins who were concordant for narcolepsy-cataplexy. They had normal cerebrospinal fluid concentrations of hypocretin-1, and we found no mutation in the prepro-hypocretin gene or either hypocretin receptor gene. Our finding points to the existence of presumably genetic forms of narcolepsy with cataplexy without any demonstrable defect in the hypocretin pathway.
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