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.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Shen T,Hu J,Jiang Y,Zhao S,Lin C,Yin X,Yan Y,Pu J,Lai HY,Zhang Bdoi
10.3389/fneur.2019.00915subject
Has Abstractpub_date
2019-08-21 00:00:00pages
915issn
1664-2295journal_volume
10pub_type
abstract::There is increasing evidence for hippocampal involvement in Amyotrophic Lateral Sclerosis (ALS). Recent neuroimaging studies have been focused on disease-related hippocampal volume alterations while changes in hippocampal shape have been investigated less frequently. Here, we aimed to characterize the patterns of hipp...
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pub_type: 杂志文章,评审
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pub_type: 杂志文章
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pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.584298
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journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2016.00241
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00478
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pub_type: 杂志文章
doi:10.3389/fneur.2020.00725
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pub_type: 杂志文章
doi:10.3389/fneur.2020.00915
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pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00327
更新日期:2020-05-08 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00421
更新日期:2018-06-07 00:00:00
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journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.01061
更新日期:2018-12-04 00:00:00
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pub_type: 杂志文章
doi:10.3389/fneur.2011.00065
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doi:10.3389/fneur.2020.605636
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