早发性白内障作为DJ-1相关帕金森综合征的临床指标 - Suppr

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Early-Onset Cataracts as a Clinical Indicator of DJ-1-Related Parkinsonism.

作者信息

Mehta Sahil, Singh Jagdeep, Mishra Saurabh, Lal Vivek

机构信息

Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

J Mov Disord. 2025 Apr;18(2):193-195. doi: 10.14802/jmd.25016. Epub 2025 Mar 24.

DOI:10.14802/jmd.25016

PMID:40127637

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12061619/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa9d/12061619/97fc0e72ddcc/jmd-25016f1.jpg

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本文引用的文献

Retinitis pigmentosa in DJ1- associated early-onset Parkinson's disease: A phenotypic expansion.

Parkinsonism Relat Disord. 2024 Oct;127:107101. doi: 10.1016/j.parkreldis.2024.107101. Epub 2024 Aug 12.

Atypical, Early-Onset Dystonia-Parkinsonism with Oculogyric Crises and Anterior Horn Cell Disorder Due to a Novel DJ-1 Mutation.

Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S16-S18. doi: 10.1002/mdc3.13282. eCollection 2021 Aug.

Reader response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss.

Neurology. 2020 May 26;94(21):943-944. doi: 10.1212/WNL.0000000000009495.

Peripheral synucleinopathy in a patient with Parkinson disease, cataracts, and hearing loss.

Neurology. 2019 Jun 4;92(23):1113-1115. doi: 10.1212/WNL.0000000000007614. Epub 2019 Apr 26.

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

Mol Neurobiol. 2018 Apr;55(4):3477-3489. doi: 10.1007/s12035-017-0535-1. Epub 2017 May 13.

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

Clin Genet. 2017 Jul;92(1):18-25. doi: 10.1111/cge.12841. Epub 2016 Oct 6.

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.

Ann Neurol. 2003 Aug;54(2):271-4. doi: 10.1002/ana.10663.

Clinical features and neuroimaging of PARK7-linked parkinsonism.

Mov Disord. 2003 Jul;18(7):751-7. doi: 10.1002/mds.10422.

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