Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway

Publikation

Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway

Wissenschaftlicher Artikel/Review - 10.04.2004

Khatami Ramin, Maret Stéphanie, Werth Esther, Rétey Julia, Schmid Dagmar, Maly Friedrich, Tafti Mehdi, Bassetti Claudio L

Zitation

Khatami R, Maret S, Werth E, Rétey J, Schmid D, Maly F, Tafti M, Bassetti C. Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway. Lancet 2004; 363:1199-200.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

Lancet 2004; 363

Veröffentlichungsdatum

10.04.2004

eISSN (Online)

1474-547X

Seiten

1199-200

Kurzbeschreibung/Zielsetzung

Narcolepsy 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.