Frontiers in Neurology (Jan 2022)
Case Report: Progressive Asymmetric Parkinsonism Secondary to CADASIL Without Dementia
- Weihang Guo,
- Baolei Xu,
- Baolei Xu,
- Baolei Xu,
- Baolei Xu,
- Hong Sun,
- Hong Sun,
- Hong Sun,
- Hong Sun,
- Jinghong Ma,
- Jinghong Ma,
- Jinghong Ma,
- Jinghong Ma,
- ShanShan Mei,
- ShanShan Mei,
- ShanShan Mei,
- ShanShan Mei,
- Jingrong Zeng,
- Junyan Sun,
- Junyan Sun,
- Erhe Xu,
- Erhe Xu,
- Erhe Xu,
- Erhe Xu
Affiliations
- Weihang Guo
- Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China
- Baolei Xu
- Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China
- Baolei Xu
- Clinical Center for Parkinson's Disease, Capital Medical University, Beijing, China
- Baolei Xu
- 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
- Baolei Xu
- National Clinical Research Center for Geriatric Disorders, Beijing, China
- Hong Sun
- Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China
- Hong Sun
- Clinical Center for Parkinson's Disease, Capital Medical University, Beijing, China
- Hong Sun
- 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
- Hong Sun
- National Clinical Research Center for Geriatric Disorders, Beijing, China
- Jinghong Ma
- Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China
- Jinghong Ma
- Clinical Center for Parkinson's Disease, Capital Medical University, Beijing, China
- Jinghong Ma
- 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
- Jinghong Ma
- National Clinical Research Center for Geriatric Disorders, Beijing, China
- ShanShan Mei
- Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China
- ShanShan Mei
- Clinical Center for Parkinson's Disease, Capital Medical University, Beijing, China
- ShanShan Mei
- 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
- ShanShan Mei
- National Clinical Research Center for Geriatric Disorders, Beijing, China
- Jingrong Zeng
- Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China
- Junyan Sun
- Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China
- Junyan Sun
- National Clinical Research Center for Geriatric Disorders, Beijing, China
- Erhe Xu
- Department of Neurobiology, Neurology and Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing Institute of Geriatrics, Beijing, China
- Erhe Xu
- Clinical Center for Parkinson's Disease, Capital Medical University, Beijing, China
- Erhe Xu
- 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
- Erhe Xu
- National Clinical Research Center for Geriatric Disorders, Beijing, China
- DOI
- https://doi.org/10.3389/fneur.2021.760164
- Journal volume & issue
-
Vol. 12
Abstract
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.
Keywords
- parkinsonism
- cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy
- cognition
- rapid eye movement sleep behavior disorder (RBD)
- case report
