一个患有非典型大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）的家族。 - Suppr

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A family with atypical CADASIL.

作者信息

Vedeler Christian, Bindoff Laurence

出版信息

J Neurol. 2011 Oct;258(10):1888-9. doi: 10.1007/s00415-011-6023-z. Epub 2011 Apr 5.

DOI:10.1007/s00415-011-6023-z

PMID:21465151

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3184223/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/895a/3184223/47815ff3753a/415_2011_6023_Fig1_HTML.jpg

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Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study.

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CADASIL.

J Geriatr Psychiatry Neurol. 2010 Dec;23(4):269-76. doi: 10.1177/0891988710383570.

Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature.

Bioessays. 2011 Jan;33(1):73-80. doi: 10.1002/bies.201000093. Epub 2010 Oct 21.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.

J Clin Neurol. 2010 Mar;6(1):1-9. doi: 10.3988/jcn.2010.6.1.1. Epub 2010 Mar 26.

Cadasil.

Lancet Neurol. 2009 Jul;8(7):643-53. doi: 10.1016/S1474-4422(09)70127-9.

Retinal abnormalities in CADASIL: a retrospective study of 18 patients.

J Neurol Neurosurg Psychiatry. 2004 Jul;75(7):1058-60. doi: 10.1136/jnnp.2003.024307.

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相似文献

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J Neurol. 2011 Oct;258(10):1888-9. doi: 10.1007/s00415-011-6023-z. Epub 2011 Apr 5.

A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient.

J Neurol Sci. 2008 Apr 15;267(1-2):170-3. doi: 10.1016/j.jns.2007.10.017. Epub 2007 Nov 19.

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J Neurol. 2011 Feb;258(2):325-7. doi: 10.1007/s00415-010-5727-9. Epub 2010 Aug 31.

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.

J Neurol Neurosurg Psychiatry. 2008 Jan;79(1):108-10. doi: 10.1136/jnnp.2007.128009. Epub 2007 Sep 14.

Novel mutation of the Notch3 gene in a Japanese patient with CADASIL.

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A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.

Neurol Sci. 2009 Jun;30(3):269-71. doi: 10.1007/s10072-009-0040-z. Epub 2009 Mar 4.

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CADASIL with Multiorgan Involvement: a Complete Autopsy Examination Report.

Can J Neurol Sci. 2016 Jan;43(1):202-5. doi: 10.1017/cjn.2015.240. Epub 2015 Jul 3.

引用本文的文献

Prevalence of Fatigue and Associations With Depression and Cognitive Impairment in Patients With CADASIL.

Neurology. 2025 Feb 11;104(3):e213335. doi: 10.1212/WNL.0000000000213335. Epub 2025 Jan 16.

Chorea Associated with Genetic-Confirmed CADASIL.

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Microbiome. 2023 Sep 8;11(1):202. doi: 10.1186/s40168-023-01638-3.

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CADASIL.

J Geriatr Psychiatry Neurol. 2010 Dec;23(4):269-76. doi: 10.1177/0891988710383570.

Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature.

Bioessays. 2011 Jan;33(1):73-80. doi: 10.1002/bies.201000093. Epub 2010 Oct 21.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.

J Clin Neurol. 2010 Mar;6(1):1-9. doi: 10.3988/jcn.2010.6.1.1. Epub 2010 Mar 26.

Cadasil.

Lancet Neurol. 2009 Jul;8(7):643-53. doi: 10.1016/S1474-4422(09)70127-9.

Retinal abnormalities in CADASIL: a retrospective study of 18 patients.

J Neurol Neurosurg Psychiatry. 2004 Jul;75(7):1058-60. doi: 10.1136/jnnp.2003.024307.