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Recurrent Biallelic p.L347P Variant in Polynesians with Parkinsonism and Isolated Dopa-Responsive Dystonia.

作者信息

Morales-Briceno Hugo, Ong Tien Lee, Duma Stephen R, Murray Natalia, Pepper Elizabeth M, Ha Ainhi, Tchan Michel C, Fung Victor S C

机构信息

Movement Disorders Unit, Department of Neurology Westmead Hospital Westmead New South Wales.

Sydney Medical School The University of Sydney Sydney New South Wales.

出版信息

Mov Disord Clin Pract. 2022 Jul 2;9(5):696-697. doi: 10.1002/mdc3.13467. eCollection 2022 Jul.

DOI:10.1002/mdc3.13467
PMID:35844286
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9274338/
Abstract
摘要

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1
Recurrent Biallelic p.L347P Variant in Polynesians with Parkinsonism and Isolated Dopa-Responsive Dystonia.患有帕金森症和孤立性多巴反应性肌张力障碍的波利尼西亚人中反复出现的双等位基因p.L347P变异
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2
Comparison of striatal 18F-dopa uptake in adult-onset dystonia-parkinsonism, Parkinson's disease, and dopa-responsive dystonia.成人起病的肌张力障碍-帕金森综合征、帕金森病和多巴反应性肌张力障碍纹状体18F-多巴摄取的比较。
Neurology. 1993 Aug;43(8):1563-8. doi: 10.1212/wnl.43.8.1563.
3
Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.携带PINK1基因L347P突变的纯合子患者的新特征。
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4
Dopa responsive dystonia and juvenile Parkinson's disease: two subtypes of the same disorder?多巴反应性肌张力障碍与青少年帕金森病：同一疾病的两种亚型？
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6
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Parkinson's Disease is Predominantly a Genetic Disease.帕金森病主要是一种遗传疾病。
J Parkinsons Dis. 2024;14(3):467-482. doi: 10.3233/JPD-230376.
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The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.非欧洲裔人群中单基因帕金森病的研究现状：综述。

本文引用的文献

1
Potential PINK1 Founder Effect in Polynesia Causing Early-Onset Parkinson's Disease.波利尼西亚潜在的PINK1奠基者效应导致早发性帕金森病。
Mov Disord. 2021 Sep;36(9):2199-2200. doi: 10.1002/mds.28665. Epub 2021 Jun 22.
2
PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases.马来西亚人中 PINK1 p.Leu347Pro 突变的流行情况及实例分析。
Parkinsonism Relat Disord. 2020 Oct;79:34-39. doi: 10.1016/j.parkreldis.2020.08.015. Epub 2020 Aug 19.
3
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.
Genes (Basel). 2023 Nov 17;14(11):2097. doi: 10.3390/genes14112097.
4
Genetic Movement Disorders Commonly Seen in Asians.亚洲人常见的遗传性运动障碍
Mov Disord Clin Pract. 2023 May 8;10(6):878-895. doi: 10.1002/mdc3.13737. eCollection 2023 Jun.
帕金森病基因 Parkin、PINK1、DJ1 的基因型-表型关系：MDSGene 系统评价。
Mov Disord. 2018 May;33(5):730-741. doi: 10.1002/mds.27352. Epub 2018 Apr 11.
4
Defining neurodegeneration on Guam by targeted genomic sequencing.在关岛通过靶向基因组测序定义神经退行性变。
Ann Neurol. 2015 Mar;77(3):458-68. doi: 10.1002/ana.24346. Epub 2015 Feb 3.
5
Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.携带PINK1基因L347P突变的纯合子患者的新特征。
Parkinsonism Relat Disord. 2007 Aug;13(6):359-61. doi: 10.1016/j.parkreldis.2006.08.009. Epub 2006 Oct 19.
6
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.对一大群帕金森病患者的PINK1基因进行分析。
Arch Neurol. 2004 Dec;61(12):1898-904. doi: 10.1001/archneur.61.12.1898.
7
Novel PINK1 mutations in early-onset parkinsonism.早发性帕金森病中的新型PINK1突变
Ann Neurol. 2004 Sep;56(3):424-7. doi: 10.1002/ana.20251.