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Type: Journal article
Title: Clinical and polysomnographic course of childhood narcolepsy with cataplexy
Author: Pizza, F.
Franceschini, C.
Peltola, H.
Vandi, S.
Finotti, E.
Ingravallo, F.
Nobili, L.
Bruni, O.
Lin, L.
Edwards, M.
Partinen, M.
Dauvilliers, Y.
Mignot, E.
Bhatia, K.
Plazzi, G.
Citation: Brain, 2013; 136(12):3787-3795
Publisher: Oxford University Press
Issue Date: 2013
ISSN: 0006-8950
Statement of
Fabio Pizza, Christian Franceschini, Hanna Peltola, Stefano Vandi, Elena Finotti, Francesca Ingravallo, Lino Nobili, Oliviero Bruni, Ling Lin, Mark J. Edwards, Markku Partinen, Yves Dauvilliers, Emmanuel Mignot, Kailash P. Bhatia, Giuseppe Plazzi
Abstract: Our aim was to investigate the natural evolution of cataplexy and polysomnographic features in untreated children with narcolepsy with cataplexy. To this end, clinical, polysomnographic, and cataplexy-video assessments were performed at diagnosis (mean age of 10 ± 3 and disease duration of 1 ± 1 years) and after a median follow-up of 3 years from symptom onset (mean age of 12 ± 4 years) in 21 children with narcolepsy with cataplexy and hypocretin 1 deficiency (tested in 19 subjects). Video assessment was also performed in two control groups matched for age and sex at first evaluation and follow-up and was blindly scored for presence of hypotonic (negative) and active movements. Patients' data at diagnosis and at follow-up were contrasted, compared with controls, and related with age and disease duration. At diagnosis children with narcolepsy with cataplexy showed an increase of sleep time during the 24 h; at follow-up sleep time and nocturnal sleep latency shortened, in the absence of other polysomnographic or clinical (including body mass index) changes. Hypotonic phenomena and selected facial movements decreased over time and, tested against disease duration and age, appeared as age-dependent. At onset, childhood narcolepsy with cataplexy is characterized by an abrupt increase of total sleep over the 24 h, generalized hypotonia and motor overactivity. With time, the picture of cataplexy evolves into classic presentation (i.e., brief muscle weakness episodes triggered by emotions), whereas total sleep time across the 24 h decreases, returning to more age-appropriate levels.
Keywords: children; narcolepsy; cataplexy; sleep; sleepiness
Rights: © The Author (2013). Published by Oxford University Press on behalf of the Guarantors of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (, which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
RMID: 0030037868
DOI: 10.1093/brain/awt277
Appears in Collections:Medicine publications

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