Cataplexy and sleep disorders in Niemann-Pick type C disease

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/15:10295680

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Cataplexy and sleep disorders in Niemann-Pick type C disease

Popis výsledku v původním jazyce

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&apos; 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

Název v anglickém jazyce

Cataplexy and sleep disorders in Niemann-Pick type C disease

Popis výsledku anglicky

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&apos; 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

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30224 - Radiology, nuclear medicine and medical imaging

Projekt

<a href="/cs/project/NT13238" target="_blank" >NT13238: Narkolepsie – klinika, patofyziologie, stárnutí, komorbidity a pohybový režim.</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Current Neurology and Neuroscience Reports

ISSN

1528-4042

e-ISSN

—

Svazek periodika

15

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

—

Kód UT WoS článku

000413200800002

EID výsledku v databázi Scopus

2-s2.0-84926254048