表现为青少年行为的与磷脂酶A2G6相关的帕金森病 - Suppr

Suppr

超能文献

PLA2G6-related parkinsonism presenting as adolescent behavior.

作者信息

Kamel Walaa Ahmed, Al-Hashel Jasem Yousef, Abdulsalam Ahmad Jasem, Damier Philippe, Al-Mejalhem Abrar Yousef

机构信息

Department of Neurology, Ibn Sina Hospital, Kuwait City, Kuwait.

Department of Neurology, Beni-Suef University, Beni Suef, Egypt.

出版信息

Acta Neurol Belg. 2019 Dec;119(4):621-622. doi: 10.1007/s13760-018-1003-z. Epub 2018 Aug 17.

DOI:10.1007/s13760-018-1003-z

PMID:30120687

Abstract

摘要

相似文献

Acta Neurol Belg. 2019 Dec;119(4):621-622. doi: 10.1007/s13760-018-1003-z. Epub 2018 Aug 17.

Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration.

Parkinsonism Relat Disord. 2015 Apr;21(4):420-2. doi: 10.1016/j.parkreldis.2015.01.012. Epub 2015 Jan 27.

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.

Neurology. 2010 Oct 12;75(15):1356-61. doi: 10.1212/WNL.0b013e3181f73649.

PLA2G6 mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology.

Mov Disord. 2016 Dec;31(12):1927-1929. doi: 10.1002/mds.26814. Epub 2016 Oct 6.

Expert Commentary: A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism.

Parkinsonism Relat Disord. 2024 Oct;127:106946. doi: 10.1016/j.parkreldis.2024.106946. Epub 2024 Mar 21.

Early-onset parkinsonism linked to combined heterozygous mutations in PANK2 and PLA2G6: A case report.

Parkinsonism Relat Disord. 2021 Dec;93:71-73. doi: 10.1016/j.parkreldis.2021.11.008. Epub 2021 Nov 19.

Juvenile PLA2G6-Parkinsonism Due to Indian 'Asian' p.R741Q Mutation, and Response to STN DBS.

Mov Disord. 2022 Mar;37(3):657-658. doi: 10.1002/mds.28950. Epub 2022 Feb 3.

Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population.

Neurosci Lett. 2012 Apr 18;514(2):156-8. doi: 10.1016/j.neulet.2012.02.078. Epub 2012 Mar 3.

Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism.

J Neural Transm (Vienna). 2017 Apr;124(4):431-435. doi: 10.1007/s00702-016-1658-7. Epub 2016 Dec 9.

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.

Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):183-91. doi: 10.1002/ajmg.b.32012. Epub 2011 Dec 27.

引用本文的文献

A novel variant of gene related early-onset parkinsonism: a case report and literature review.

Front Neurol. 2024 Apr 18;15:1349861. doi: 10.3389/fneur.2024.1349861. eCollection 2024.

Case Report: A case of gene-related early-onset Parkinson's disease and review of literature.

Front Neurosci. 2022 Dec 9;16:1064566. doi: 10.3389/fnins.2022.1064566. eCollection 2022.

Non-Motor Symptoms in Associated Dystonia-Parkinsonism: A Case Report and Literature Review.

J Clin Med. 2022 Mar 13;11(6):1590. doi: 10.3390/jcm11061590.

Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.

BMC Neurol. 2020 Mar 17;20(1):101. doi: 10.1186/s12883-020-01684-6.

Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.

Front Neurol. 2019 Aug 21;10:915. doi: 10.3389/fneur.2019.00915. eCollection 2019.

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.

Front Neurol. 2018 Dec 18;9:1100. doi: 10.3389/fneur.2018.01100. eCollection 2018.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验