Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare Variant (ATX-).
作者信息
Reyes Nikolai Gil D, Sepúlveda Soto Maria Carolina, Munhoz Renato P
机构信息
Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital Toronto Ontario Canada.
出版信息
Mov Disord Clin Pract. 2023 Apr 17;10(6):1024-1026. doi: 10.1002/mdc3.13745. eCollection 2023 Jun.
Abstract
摘要
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Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.携带 AFG3L2 中 SCA28 患者突变的小鼠会出现迟发性共济失调，伴有增强的线粒体蛋白毒性。
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本文引用的文献
1
Spinocerebellar Ataxia 28 Presenting as Predominantly Generalized Dystonia.以全身性肌张力障碍为主的脊髓小脑共济失调28型
Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):832-834. doi: 10.4103/aian.AIAN_1159_20. Epub 2021 Aug 5.
2
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.低等位基因效价等位基因在罕见病基因组变异解释方面带来了挑战。
Clin Genet. 2021 Dec;100(6):775-776. doi: 10.1111/cge.14052. Epub 2021 Sep 3.
3
Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.扩展 AFG3L2 突变的表型：迟发性常染色体隐性脊髓小脑共济失调。
J Neurol Sci. 2021 Sep 15;428:117600. doi: 10.1016/j.jns.2021.117600. Epub 2021 Jul 27.
4
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.脊髓小脑性共济失调 28 型-携带 AFG3L2 杂合和复合杂合突变的家系的表型和分子特征。
Cerebellum. 2019 Aug;18(4):817-822. doi: 10.1007/s12311-019-01036-2.
5
Dystonic Tremor and Spasmodic Dysphonia in Spinocerebellar Ataxia Type 12.12型脊髓小脑共济失调中的肌张力障碍性震颤和痉挛性发声障碍
Mov Disord Clin Pract. 2014 Apr 10;1(1):79-81. doi: 10.1002/mdc3.12006. eCollection 2014 Apr.
6
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
7
Autosomal dominant cerebellar ataxias: a systematic review of clinical features.常染色体显性小脑共济失调：临床特征的系统综述。
Eur J Neurol. 2014 Apr;21(4):607-15. doi: 10.1111/ene.12350. Epub 2014 Feb 12.
8
Spinocerebellar ataxia type 28.28型脊髓小脑共济失调
Handb Clin Neurol. 2012;103:575-9. doi: 10.1016/B978-0-444-51892-7.00039-5.
9
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.位于 AFG3L2 蛋白水解结构域的错义突变占欧洲常染色体显性小脑共济失调的约 1.5%。
Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342.
10
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.线粒体蛋白酶基因 AFG3L2 的突变导致显性遗传性共济失调 SCA28。
Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.
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