Cataplexy and sleep disorders in Niemann-Pick type C disease

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10295680" target="_blank" >RIV/00216208:11110/15:10295680 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/15:10295680
Result on the web
<a href="http://dx.doi.org/10.1007/s11910-014-0522-0" target="_blank" >http://dx.doi.org/10.1007/s11910-014-0522-0</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s11910-014-0522-0" target="_blank" >10.1007/s11910-014-0522-0</a>

Result language
angličtina
Original language name
Cataplexy and sleep disorders in Niemann-Pick type C disease
Original language description
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
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30224 - Radiology, nuclear medicine and medical imaging

Project
<a href="/en/project/NT13238" target="_blank" >NT13238: Narcolepsy – clinical picture, pathophysiology, ageing, comorbidities and physical activity regimen</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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