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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a rare cause of dementia.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL):一种罕见的痴呆病因。
BMJ Case Rep. 2013 Jan 25;2013:bcr2012007285. doi: 10.1136/bcr-2012-007285.
2
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) presenting with stroke in a young man.一名年轻男性患伴有皮质下梗死和白质脑病的大脑常染色体显性动脉病(CADASIL)并出现中风
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Detection of early cognitive impairment using AD8 in a young patient with stroke with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome: a case report.应用 AD8 检测脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)综合征年轻脑卒中患者的早期认知障碍:病例报告
Am J Alzheimers Dis Other Demen. 2014 Mar;29(2):133-7. doi: 10.1177/1533317513511289. Epub 2013 Nov 24.
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CADASIL disease, an inherited slowly progressive vascular dementia: case report with radiologic and electron microscopic findings.CADASIL 病,一种遗传性进行性血管性痴呆:伴有放射学和电子显微镜检查结果的病例报告。
J Stroke Cerebrovasc Dis. 2009 Nov-Dec;18(6):491-3. doi: 10.1016/j.jstrokecerebrovasdis.2009.02.004.
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A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).一个中国脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)患者的新型 Notch3 缺失突变。
J Clin Neurosci. 2013 Feb;20(2):322-3. doi: 10.1016/j.jocn.2012.02.026. Epub 2012 Nov 11.
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[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)
Rinsho Byori. 2009 Mar;57(3):242-51.
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy without anterior temporal pole involvement: a case report.无颞极前部受累的大脑常染色体显性遗传性动脉病伴皮质下梗死和白质脑病:一例报告
J Stroke Cerebrovasc Dis. 2014 Mar;23(3):e241-2. doi: 10.1016/j.jstrokecerebrovasdis.2013.10.013. Epub 2013 Dec 2.
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male.一名11岁男性患大脑常染色体显性动脉病伴皮质下梗死和白质脑病导致中风
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a case report with review of literature.伴有皮质下梗死和白质脑病的脑常染色体显性动脉病(CADASIL):一例病例报告并文献复习
Neurol India. 2004 Mar;52(1):99-101.
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL) revealed by Claude's syndrome.由克劳德综合征揭示的大脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)
Rev Neurol (Paris). 2012 Apr;168(4):384-6. doi: 10.1016/j.neurol.2011.08.017. Epub 2012 Mar 3.

引用本文的文献

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Language Impairment in Vascular Dementia: A Clinical Review.血管性痴呆的语言障碍:临床综述。
J Geriatr Psychiatry Neurol. 2024 Mar;37(2):87-95. doi: 10.1177/08919887231195225. Epub 2023 Aug 8.
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Relevance of Notch Signaling for Bone Metabolism and Regeneration.Notch 信号在骨骼代谢和再生中的相关性。
Int J Mol Sci. 2021 Jan 29;22(3):1325. doi: 10.3390/ijms22031325.
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A series of Notch3 mutations in CADASIL; insights from 3D molecular modelling and evolutionary analyses.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)中的一系列Notch3突变:来自三维分子建模和进化分析的见解
J Mol Biochem. 2014;3(3).
4
CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) presenting as psychosis.以精神病为表现的CADASIL综合征(伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病)
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本文引用的文献

1
Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience.乙酰唑胺预防 CADASIL 偏头痛:初步经验。
J Headache Pain. 2012 Jun;13(4):299-302. doi: 10.1007/s10194-012-0426-9. Epub 2012 Feb 25.
2
[The pathomechanism and treatment of CADASIL].
Rinsho Shinkeigaku. 2011 Nov;51(11):945-8. doi: 10.5692/clinicalneurol.51.945.
3
[CADASIL: Case report and literature review].
Psychiatriki. 2008 Jan;19(1):21-7.
4
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.脑常染色体显性动脉病伴皮质下梗死和白质脑病:小血管疾病的一种遗传病因。
J Clin Neurol. 2010 Mar;6(1):1-9. doi: 10.3988/jcn.2010.6.1.1. Epub 2010 Mar 26.
5
Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL.多奈哌齐治疗皮质下血管性认知障碍患者:CADASIL的一项随机双盲试验
Lancet Neurol. 2008 Apr;7(4):310-8. doi: 10.1016/S1474-4422(08)70046-2. Epub 2008 Feb 28.
6
The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland.苏格兰西部大脑常染色体显性遗传性动脉病伴皮质下梗死和白质脑病(CADASIL)的患病率
J Neurol Neurosurg Psychiatry. 2005 May;76(5):739-41. doi: 10.1136/jnnp.2004.051847.
7
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)的长期预后及死亡原因:411例患者的回顾性研究
Brain. 2004 Nov;127(Pt 11):2533-9. doi: 10.1093/brain/awh282. Epub 2004 Sep 13.
8
Diagnostic strategies in CADASIL.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)的诊断策略
Neurology. 2002 Oct 22;59(8):1134-8. doi: 10.1212/wnl.59.8.1134.
9
Acetazolamide for the treatment of migraine with aura in CADASIL.乙酰唑胺用于治疗伴有先兆的偏头痛性大脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)
Neurology. 2001 Dec 11;57(11):2144-5. doi: 10.1212/wnl.57.11.2144.
10
The natural history of CADASIL: a pooled analysis of previously published cases.大脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)的自然病史:对既往发表病例的汇总分析
Stroke. 1999 Jun;30(6):1230-3. doi: 10.1161/01.str.30.6.1230.

伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL):一种罕见的痴呆病因。

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a rare cause of dementia.

作者信息

Toni-Uebari Thelma K

机构信息

Old Age Psychiatry, Parklands Hospital, Basingstoke, Hampshire, UK.

出版信息

BMJ Case Rep. 2013 Jan 25;2013:bcr2012007285. doi: 10.1136/bcr-2012-007285.

DOI:10.1136/bcr-2012-007285
PMID:23355563
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3604186/
Abstract

The clinical course of a 60-year-old gentleman with a history of atypical migraine, recurrent encephalopathic episodes and progressive cognitive impairment is presented. He was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, a rare genetic disorder of the cerebral blood vessels caused by mutations in the Notch 3 gene on chromosome 19. The diagnosis was confirmed by MRI, skin biopsy and genetic testing. His cognitive function has progressively deteriorated and he continues to receive supportive care provision. The course and review of the condition are highlighted.

摘要

本文介绍了一位60岁男性患者的临床病程,该患者有非典型偏头痛、复发性脑病发作和进行性认知障碍病史。他被诊断为伴有皮质下梗死和白质脑病的大脑常染色体显性动脉病,这是一种由19号染色体上Notch 3基因突变引起的罕见脑血管遗传病。通过MRI、皮肤活检和基因检测确诊。他的认知功能逐渐恶化,目前仍在接受支持性护理。文中重点强调了病情的发展过程及相关评估。