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A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.

作者信息

Chacaltana-Vinas Cesar, Ramirez-Pajares Patricia, Manrique-Palomino Alid, Clause Amanda R, Chawla Aditi, Thorpe Erin, Taft Ryan, Rivera-Valdivia Andrea, Sarapura-Castro Elison, Bazalar-Montoya Jeny, Cornejo-Olivas Mario

机构信息

Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.

Unidad Funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.

出版信息

Mov Disord Clin Pract. 2024 Jun;11(6):746-748. doi: 10.1002/mdc3.14025. Epub 2024 Mar 26.

DOI:10.1002/mdc3.14025
PMID:38532471
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11145125/
Abstract
摘要

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引用本文的文献

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A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.一种新型 SQSTM1 同义突变导致的以共济失调、肌张力障碍和眼球运动障碍为特征的神经退行性疾病：基于尿液衍生细胞的功能分析揭示。
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Mov Disord Clin Pract. 2023 Apr 20;10(5):835-838. doi: 10.1002/mdc3.13697. eCollection 2023 May.
2
First report of novel mutation (c.790del) on gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy.一个患有儿童期起病的进行性小脑共济失调伴垂直凝视麻痹的家族中某基因新型突变（c.790del）的首次报道。
Clin Case Rep. 2022 Aug 9;10(8):e6203. doi: 10.1002/ccr3.6203. eCollection 2022 Aug.
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Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S21-S23. doi: 10.1002/mdc3.13289. eCollection 2021 Aug.
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Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement.在一名有脑干受累的患者中鉴定出纯合子SQSTM1无义变异。
Brain Dev. 2021 Nov;43(10):1039-1043. doi: 10.1016/j.braindev.2021.06.001. Epub 2021 Jun 16.
5
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