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[一例伴有皮质下梗死和白质脑病的症状性常染色体显性遗传性脑动脉病（CADASIL）]

[A case of symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].

作者信息

Nakamizo A, Koga H, Uyama E, Yamabe K

机构信息

Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Kitakyushu, Japan.

出版信息

Fukuoka Igaku Zasshi. 2000 Sep;91(9):239-42.

PMID:11080925
Abstract

We here report a 42-year-old woman diagnosed cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by age, family history, neurological findings, and neuro imagings. Magnetic resonance imaging well demonstrated the multiple lesions in the cerebrum including the brain stem, which was characteristic findings in CADASIL.

摘要

我们在此报告一名42岁女性，根据年龄、家族史、神经学检查结果及神经影像学检查，被诊断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）。磁共振成像很好地显示了大脑包括脑干的多处病变，这是CADASIL的典型表现。

相似文献

1
[A case of symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].[一例伴有皮质下梗死和白质脑病的症状性常染色体显性遗传性脑动脉病（CADASIL）]
Fukuoka Igaku Zasshi. 2000 Sep;91(9):239-42.
2
Mutation of the Notch 3 gene in a Thai cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family.
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[Report of a patient with CADASIL having a novel missense mutation of the Notch 3 gene--association with alopecia and lumbar herniated disk].
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12.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定位于19号染色体长臂12区。
Nat Genet. 1993 Mar;3(3):256-9. doi: 10.1038/ng0393-256.
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Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL.
Acta Neuropathol. 2004 Sep;108(3):231-40. doi: 10.1007/s00401-004-0887-2. Epub 2004 Jun 19.
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[Hereditary CADASIL cerebral arteriopathy. Report of a family].
Nervenarzt. 1995 Dec;66(12):927-32.
7
[From gene to disease; from Notch3 to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].[从基因到疾病；从Notch3到伴有皮质下梗死和白质脑病的大脑常染色体显性动脉病]
Ned Tijdschr Geneeskd. 2001 Feb 24;145(8):359-60.
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CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.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）
J Neuropathol Exp Neurol. 1997 Sep;56(9):947-64.
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[Japanese CADASIL case with limited dementia who had the Notch 3 R141C mutation].携带Notch 3基因R141C突变的轻度痴呆日本CADASIL病例
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[Cerebral arteriopathy with subcortical infarctions and leukoencephalopathy with dominant autosomal inheritance (CADASIL). Clinical and morphological study].[常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病（CADASIL）。临床与形态学研究]
Neurologia. 1999 Jun-Jul;14(6):275-82.