Cataplexy and sleep disorders in Niemann-Pick type C disease
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu časopisecké články, práce podpořená grantem, přehledy
- MeSH
- kataplexie diagnóza patologie patofyziologie terapie MeSH
- lidé MeSH
- Niemannova-Pickova nemoc typu C diagnóza patologie patofyziologie terapie MeSH
- poruchy spánku a bdění diagnóza patologie patofyziologie terapie MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
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.
Zobrazit více v PubMed
Biochim Biophys Acta. 1991 Jun 5;1096(4):328-37 PubMed
Eur J Pediatr. 1981 Jul;136(3):263-74 PubMed
Sleep. 1994 Dec;17(8 Suppl):S17-20 PubMed
Neuropediatrics. 2003 Feb;34(1):52-3 PubMed
Sleep. 2003 Jun 15;26(4):427-30 PubMed
Eur J Paediatr Neurol. 2011 Jan;15(1):84-7 PubMed
Clin Genet. 2003 Oct;64(4):269-81 PubMed
Pediatr Neurol. 2006 Jul;35(1):82-4 PubMed
J Inherit Metab Dis. 2006 Oct;29(5):647-52 PubMed
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S357-61 PubMed
Sleep. 1986 Dec;9(4):519-24 PubMed
Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40 PubMed
Neurology. 1995 Sep;45(9):1739-43 PubMed
Biochim Biophys Acta. 2004 Oct 11;1685(1-3):77-82 PubMed
J Neuropsychiatry Clin Neurosci. 2006 Spring;18(2):158-70 PubMed
Neurology. 2010 Jul 6;75(1):49-56 PubMed
Orphanet J Rare Dis. 2010 Jun 03;5:16 PubMed
Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65 PubMed
Sleep Med Rev. 2005 Aug;9(4):269-310 PubMed
J Neurol Sci. 2008 May 15;268(1-2):108-16 PubMed
Curr Neurol Neurosci Rep. 2014 Aug;14(8):469 PubMed
Neurology. 2012 Nov 27;79(22):e189 PubMed
Ther Clin Risk Manag. 2009;5:877-87 PubMed
Lancet Neurol. 2007 Sep;6(9):765-72 PubMed
Arch Neurol. 2002 Oct;59(10):1553-62 PubMed
J Inherit Metab Dis. 2002 Oct;25(6):491-500 PubMed
Orphanet J Rare Dis. 2013 Oct 17;8:166 PubMed
Mol Genet Metab. 2012 Jul;106(3):330-44 PubMed
Handb Clin Neurol. 2013;113:1717-21 PubMed
Brain. 2007 Jan;130(Pt 1):120-33 PubMed
AJNR Am J Neuroradiol. 2013 Jul;34(7):1334-40 PubMed
Neurol Sci. 2012 Dec;33(6):1225-32 PubMed
Tohoku J Exp Med. 2006 Jul;209(3):263-7 PubMed
Ann Neurol. 1982 Sep;12(3):284-8 PubMed
Clin Genet. 1988 May;33(5):331-48 PubMed
Mov Disord. 2008 Apr 30;23(6):858-65 PubMed
Neuroscience. 1999;91(4):1389-99 PubMed
