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伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病继发的进行性核上性麻痹表型

Progressive supranuclear palsy phenotype secondary to CADASIL.

作者信息

Van Gerpen J A, Ahlskog J E, Petty G W

机构信息

Department of Neurology, Mayo Clinic Foundation, 200 First Street SW, Rochester, MN 55905, USA.

出版信息

Parkinsonism Relat Disord. 2003 Aug;9(6):367-9. doi: 10.1016/s1353-8020(02)00146-3.

DOI:10.1016/s1353-8020(02)00146-3
PMID:12853237
Abstract

BACKGROUND AND PURPOSE

To report a unique case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy manifesting as a progressive supranuclear palsy phenotype, thereby expanding its recognized presentations.

METHODS

Review of the pertinent literature from MEDLINE, cross-referencing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, progressive supranuclear palsy, and parkinsonism. Description of a 60-year-old woman who presented with a several year history of step-wise, progressive parkinsonism secondary to cerebral autosomal dominant arteriopathy.

RESULTS

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy may present with a progressive supranuclear phenotype.

CONCLUSION

Parkinsonism, including a progressive supranuclear palsy phenotype, is one of a growing number of recognized ways that cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy may present.

摘要

背景与目的

报告一例独特的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,其表现为进行性核上性麻痹表型,从而扩展了其已被认可的临床表现。

方法

回顾MEDLINE中相关文献,交叉引用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、进行性核上性麻痹和帕金森综合征。描述一名60岁女性,她因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出现了数年的逐步进展的帕金森综合征病史。

结果

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可能表现为进行性核上性表型。

结论

帕金森综合征,包括进行性核上性麻痹表型,是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越来越多被认可的临床表现方式之一。

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