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Case Report: Progressive Asymmetric Parkinsonism Secondary to CADASIL Without Dementia.

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机构： [1]Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China. [2]Clinical Center for Parkinson's Disease, Capital Medical University, Beijing, China. [3]Key Laboratory for Neurodegenerative Disease of the Ministry of Education, Beijing Key Laboratory for Parkinson's Disease, Parkinson's Disease Center of Beijing Institute for Brain Disorders, Beijing, China. [4]National Clinical Research Center for Geriatric Disorders, Beijing, China.

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关键词： parkinsonism cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy cognition rapid eye movement sleep behavior disorder (RBD) case report

摘要：

Parkinsonism is a rare phenotype of cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL), all of which involve cognitive decline. Normal cognition has not been reported in previous disease studies. Here we report the case of a 60-year-old female patient with a 2-year history of progressive asymmetric parkinsonism. On examination, she showed severe parkinsonism featuring bradykinesia and axial and limb rigidity with preserved cognition. Magnetic resonance imaging (MRI) revealed white matter hyperintensity in the external capsule and periventricular region. Dopaminergic response was limited. A missense mutation c.1630C>T (p.R544C) on the NOTCH3 gene was identified on whole-exome sequencing, which confirmed the diagnosis of vascular parkinsonism secondary to CADASIL. A diagnosis of CADASIL should be considered in asymmetric parkinsonism without dementia. Characteristic MRI findings support the diagnosis.Copyright © 2022 Guo, Xu, Sun, Ma, Mei, Zeng, Sun and Xu.

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出版当年[2021]版：

大类 | 3 区医学

小类 | 3 区临床神经病学 3 区神经科学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区临床神经病学 3 区神经科学

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出版当年[2020]版：

Q2 NEUROSCIENCES Q2 CLINICAL NEUROLOGY

最新[2023]版：

Q2 CLINICAL NEUROLOGY Q3 NEUROSCIENCES

影响因子： 2.7 最新[2023版] 3.3 最新五年平均 4.003 出版当年[2020版] 4.189 出版当年五年平均 2.889 出版前一年[2019版] 4.086 出版后一年[2021版]

第一作者：

第一作者机构： [1]Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China.

通讯作者：

通讯机构： [1]Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China. [2]Clinical Center for Parkinson's Disease, Capital Medical University, Beijing, China. [3]Key Laboratory for Neurodegenerative Disease of the Ministry of Education, Beijing Key Laboratory for Parkinson's Disease, Parkinson's Disease Center of Beijing Institute for Brain Disorders, Beijing, China. [4]National Clinical Research Center for Geriatric Disorders, Beijing, China.

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