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Cataplexy and Sleep Disorders in Niemann-Pick Type C Disease

  • Sona NevsimalovaEmail author
  • Vera Malinova
Sleep (M Thorpy, M Billiard, Section Editors)
Part of the following topical collections:
  1. Topical Collection on Sleep

Abstract

Niemann-Pick disease type C (NP-C) is a rare and progressive autosomal recessive disease leading to disabling neurological manifestation and premature death. The disease is prone to underdiagnosis because of its highly heterogeneous presentation. NP-C is characterized by visceral, neurological, and psychiatric manifestation, and its clinical picture varies according to age at onset. Although cataplexy is one of its characteristic symptoms, particularly in the late infantile and juvenile form, sleep disturbances are described only exceptionally. A combination of splenomegaly, vertical supranuclear gaze palsy, and cataplexy creates a most useful suspicion index tool for the disease. In adolescent and adult patients, when intellectual deterioration progresses and emotional reactions become flat, cataplexy usually disappears. Pathological findings in the brainstem in NP-C mouse model are compatible with the patients’ symptoms including cataplexy. The authors observed cataplexy in 5 (3 with late infantile and 2 with juvenile form) out of 22 NP-C cases followed up in the past 20 years.

Keywords

Niemann-Pick type C Clinical symptoms Cataplexy Sleep disturbance Hypocretin Personal observation 

Notes

Acknowledgments

Supported by PRVOUK-P26/LF1/4, IGA MZ CR NT 13238-4/2012, and RVO-VFN 64165/2014.

Compliance with Ethics Guidelines

Conflict of Interest

Sona Nevsimalova is supported by PRVOUK-P26/LF1/4, IGA MZ CR NT 13238-4/2012, and RVO-VFN 64165/2014.

Vera Malinova has received travel support from Actelion (NPC and Gaucher meetings), and paid travel accommodations for LSD congresses and is supported by RVO-VFN 64165/2014.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Supplementary material

Fig. 1

A video shows cataplectic attack in a 13-year-old boy with juvenile form of Niemann-Pick type C disease during the electroencephalographic monitoring. The long attack is evoked by laugh (“gelastic cataplexy”). We are thankful to Jan Hadac, MD, PhD (Department of Pediatric Neurology, Thomayer’s Hospital, Prague, Czech Republic) for a possibility to show this video. (WMV 2247 kb)

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of Neurology, 1st Faculty of Medicine and General Teaching HospitalCharles UniversityPrague 2Czech Republic
  2. 2.Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine and General Teaching HospitalCharles UniversityPragueCzech Republic

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