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Current Neurology and Neuroscience Reports
Published in: Current Neurology and Neuroscience Reports 1/2015

01-01-2015 | Sleep (M Thorpy, M Billiard, Section Editors)

Cataplexy and Sleep Disorders in Niemann-Pick Type C Disease

Authors: Sona Nevsimalova, Vera Malinova

Published in: Current Neurology and Neuroscience Reports | Issue 1/2015

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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.
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Metadata
Title
Cataplexy and Sleep Disorders in Niemann-Pick Type C Disease
Authors
Sona Nevsimalova
Vera Malinova
Publication date
01-01-2015
Publisher
Springer US
Published in
Current Neurology and Neuroscience Reports / Issue 1/2015
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-014-0522-0

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