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Acute Ophthalmoplegia with Wernicke-Like MRI Pattern in a Patient with HPDL-Related Disorder.

作者信息

Sartorelli Jacopo, Longo Daniela, Travaglini Lorena, Orlando Valeria, D'Amico Adele, Bertini Enrico, Nicita Francesco

机构信息

Unit of Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

出版信息

Mov Disord Clin Pract. 2024 Sep;11(9):1160-1162. doi: 10.1002/mdc3.14153. Epub 2024 Jun 28.

DOI:10.1002/mdc3.14153
PMID:38940375
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11452784/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f38/11452784/aa733a3309b9/MDC3-11-1160-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f38/11452784/aa733a3309b9/MDC3-11-1160-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f38/11452784/aa733a3309b9/MDC3-11-1160-g001.jpg

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本文引用的文献

1
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.日本常染色体隐性遗传性痉挛性截瘫同胞患者中 novel homozygous HPDL 变异：病例报告及文献复习
Neurogenetics. 2024 Apr;25(2):149-156. doi: 10.1007/s10048-024-00746-y. Epub 2024 Jan 29.
2
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially.最初类似于中枢神经系统自身免疫性疾病的线粒体疾病和对类固醇的良好反应。
Eur J Paediatr Neurol. 2022 Nov;41:27-35. doi: 10.1016/j.ejpn.2022.09.003. Epub 2022 Sep 20.
3
HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
外显子组测序鉴定的 HPDL 突变与婴儿神经发育障碍有关。
Mol Genet Genomic Med. 2022 Oct;10(10):e2025. doi: 10.1002/mgg3.2025. Epub 2022 Aug 19.
4
Case Report: Two Families With Related Neurodegeneration.病例报告：两个患有相关神经退行性疾病的家庭。
Front Genet. 2022 Feb 9;13:780764. doi: 10.3389/fgene.2022.780764. eCollection 2022.
5
Leigh syndrome-like MRI changes in a patient with biallelic variants treated with ketogenic diet.采用生酮饮食治疗的双等位基因变异患者出现类似Leigh综合征的MRI改变。
Mol Genet Metab Rep. 2021 Sep 4;29:100800. doi: 10.1016/j.ymgmr.2021.100800. eCollection 2021 Dec.
6
Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.新型双等位基因HPDL变异导致一名中国患者患遗传性痉挛性截瘫。
Clin Genet. 2021 Dec;100(6):777-778. doi: 10.1111/cge.14056. Epub 2021 Sep 13.
7
HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.HPDL 缺乏症通过损害线粒体呼吸作用导致神经肌肉疾病。
J Genet Genomics. 2021 Aug 20;48(8):727-736. doi: 10.1016/j.jgg.2021.01.009. Epub 2021 Jun 17.
8
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.HPDL 中的双等位基因突变导致纯合和复杂遗传性痉挛性截瘫。
Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041.
9
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in .常染色体隐性痉挛性脑瘫1型（CPSQ1）由……中的一个错义变异引起的证据。
Brain Commun. 2021 Jan 28;3(1):fcab002. doi: 10.1093/braincomms/fcab002. eCollection 2021.
10
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.双等位基因 HPDL 变异导致从新生儿脑病到青少年发病的痉挛性截瘫的神经退行性疾病。
Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23.