Frontiers in Neurology (Aug 2019)
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review
- Ting Shen,
- Ting Shen,
- Ting Shen,
- Jing Hu,
- Jing Hu,
- Yasi Jiang,
- Yasi Jiang,
- Shuai Zhao,
- Shuai Zhao,
- Caixiu Lin,
- Caixiu Lin,
- Xinzhen Yin,
- Xinzhen Yin,
- Yaping Yan,
- Yaping Yan,
- Jiali Pu,
- Jiali Pu,
- Hsin-Yi Lai,
- Hsin-Yi Lai,
- Baorong Zhang,
- Baorong Zhang
Affiliations
- Ting Shen
- Department of Neurology of the Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang University, Hangzhou, China
- Ting Shen
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- Ting Shen
- Key Laboratory of Biomedical Engineering of Ministry of Education, Qiushi Academy for Advanced Studies, College of Biomedical Engineering and Instrument Science, Zhejiang University, Hangzhou, China
- Jing Hu
- Department of Neurology of the Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang University, Hangzhou, China
- Jing Hu
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- Yasi Jiang
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- Yasi Jiang
- Key Laboratory of Biomedical Engineering of Ministry of Education, Qiushi Academy for Advanced Studies, College of Biomedical Engineering and Instrument Science, Zhejiang University, Hangzhou, China
- Shuai Zhao
- Department of Neurology of the Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang University, Hangzhou, China
- Shuai Zhao
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- Caixiu Lin
- Department of Neurology of the Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang University, Hangzhou, China
- Caixiu Lin
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- Xinzhen Yin
- Department of Neurology of the Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang University, Hangzhou, China
- Xinzhen Yin
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- Yaping Yan
- Department of Neurology of the Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang University, Hangzhou, China
- Yaping Yan
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- Jiali Pu
- Department of Neurology of the Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang University, Hangzhou, China
- Jiali Pu
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- Hsin-Yi Lai
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- Hsin-Yi Lai
- Key Laboratory of Biomedical Engineering of Ministry of Education, Qiushi Academy for Advanced Studies, College of Biomedical Engineering and Instrument Science, Zhejiang University, Hangzhou, China
- Baorong Zhang
- Department of Neurology of the Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang University, Hangzhou, China
- Baorong Zhang
- Department of Neurology of the Second Affiliated Hospital, Interdisciplinary Institute of Neuroscience and Technology, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University, Hangzhou, China
- DOI
- https://doi.org/10.3389/fneur.2019.00915
- Journal volume & issue
-
Vol. 10
Abstract
PLA2G6 has been certified as a causative gene in patients with autosomal recessive early-onset Parkinson's disease (EOPD). We reported an EOPD case caused by PLA2G6 gene mutation, and performed neurological examination, genetic analysis, and multimodal neuroimaging to describe this phenotype. A compound heterozygous mutation c.991G>T/c.1472+1G>A was detected in this patient. Heterozygous for the c.991G>T and c.1472+1G>A were separately detected in his parents. Pathogenicity of these two mutations were predicted according to the American college of medical genetics and genomics (ACMG) guideline. MRI assessment showed absence of bilateral “swallow tail sign” and cerebellar atrophy in this patient, while no obvious difference in brain iron accumulation between PLA2G6 mutant PD patient and healthy controls. Cerebellar abnormalities may be a marker for diagnosis and evaluation of PLA2G6 mutation Parkinsonism. However, the iron accumulation in PD may not be the result of PLA2G6 mutation.
Keywords
