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伴有癫痫发作起病的大脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)

CADASIL Initially Presented with a Seizure.

作者信息

Oh Jung-Hwan, Kang Bong Su, Choi Jay Chol

机构信息

Department of Neurology, Jeju National University School of Medicine, Jeju, Korea.

Yangpyeong Hospital, Yangpyeong, Korea.

出版信息

J Epilepsy Res. 2016 Dec 31;6(2):104-106. doi: 10.14581/jer.16020. eCollection 2016 Dec.

DOI:10.14581/jer.16020
PMID:28101484
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5206098/
Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of the cerebral small blood vessels characterized by recurrent ischemic strokes, migraine, and progressive cognitive impairment. In patients with CADASIL, in whom subcortical white matter structures are typically involved, epileptic seizures have been rarely reported as an initial clinical symptom. We describe a patient genetically confirmed as having CADASIL who initially presented with a seizure.

摘要

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)是一种脑小血管遗传性疾病,其特征为反复缺血性卒中、偏头痛和进行性认知障碍。在CADASIL患者中,皮质下白质结构通常受累,癫痫发作作为初始临床症状鲜有报道。我们描述了一名经基因确诊为CADASIL的患者,其最初表现为癫痫发作。

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本文引用的文献

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Recurrent status epilepticus as the primary neurological manifestation of CADASIL: A case report.复发性癫痫持续状态作为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)的主要神经学表现:一例报告
Epilepsy Behav Case Rep. 2015 Apr 1;3:26-9. doi: 10.1016/j.ebcr.2015.02.004. eCollection 2015.
2
Epilepsy associated with Leukoaraiosis mainly affects temporal lobe: a casual or causal relationship?与脑白质疏松症相关的癫痫主要影响颞叶:是偶然还是因果关系?
Epilepsy Res. 2015 Jan;109:1-8. doi: 10.1016/j.eplepsyres.2014.10.012. Epub 2014 Oct 28.
3
Focal epilepsy as first symptom in CADASIL.
皮质下血管性脑白质病变相关性癫痫作为首发症状。
Seizure. 2011 Jul;20(6):502-4. doi: 10.1016/j.seizure.2011.02.006. Epub 2011 Mar 16.
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Intracortical infarcts in small vessel disease: a combined 7-T postmortem MRI and neuropathological case study in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy.皮质下小血管病的皮质内梗死:脑常染色体显性动脉病伴皮质下梗死和白质脑病的 7-T 死后 MRI 和神经病理学联合病例研究。
Stroke. 2011 Mar;42(3):e27-30. doi: 10.1161/STROKEAHA.110.594218. Epub 2011 Feb 3.
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Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration.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)中的运动皮质胆碱能功能障碍:经颅磁证明
Clin Neurophysiol. 2008 Feb;119(2):351-5. doi: 10.1016/j.clinph.2007.10.011. Epub 2007 Dec 11.
6
Intracerebral hemorrhages 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中的脑出血
Neurology. 2006 Dec 12;67(11):2042-4. doi: 10.1212/01.wnl.0000246601.70918.06. Epub 2006 Nov 29.
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Cholinergic neuronal deficits in CADASIL.
Stroke. 2007 Jan;38(1):188-91. doi: 10.1161/01.STR.0000251787.90695.05. Epub 2006 Nov 22.
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White matter abnormalities in the anterior temporal lobe suggest the side of the seizure foci in temporal lobe epilepsy.颞叶前部的白质异常提示颞叶癫痫发作灶的位置。
Neuroradiology. 2006 Jul;48(7):460-4. doi: 10.1007/s00234-006-0092-1. Epub 2006 Apr 28.
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Clinical Features of 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的临床特征
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Increased susceptibility to generalized seizures after immunolesions of the basal forebrain cholinergic neurons in rats.
Brain Res. 2000 Sep 29;878(1-2):223-7. doi: 10.1016/s0006-8993(00)02703-7.