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Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.

作者信息

Maass Fabian, Jamous Ala, Biskup Saskia, Eisenberg Hanna, D'Hedouville Zara, Bähr Mathias, van Riesen Christoph

机构信息

Department of Neurology University Medical Center Göttingen Göttingen Germany.

Department of Neuroradiology University Medical Center Göttingen Göttingen Germany.

出版信息

Mov Disord Clin Pract. 2023 Mar 27;10(6):1016-1019. doi: 10.1002/mdc3.13717. eCollection 2023 Jun.

DOI:10.1002/mdc3.13717
PMID:37332650
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10272897/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ccb/10272897/3a7ee4c85b77/MDC3-10-1016-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ccb/10272897/3a7ee4c85b77/MDC3-10-1016-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ccb/10272897/3a7ee4c85b77/MDC3-10-1016-g001.jpg

相似文献

1
Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.由新型TGM6变异导致的35型脊髓小脑共济失调：一个德国家庭的视频记录
Mov Disord Clin Pract. 2023 Mar 27;10(6):1016-1019. doi: 10.1002/mdc3.13717. eCollection 2023 Jun.
2
L517W is not a pathogenic variant for spinocerebellar ataxia type 35.L517W不是35型脊髓小脑共济失调的致病变异体。
Neurol Genet. 2020 Apr 22;6(3):e424. doi: 10.1212/NXG.0000000000000424. eCollection 2020 Jun.
3
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.利用外显子组测序发现 TGM6 是一种新型的脊髓小脑共济失调致病基因。
Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.
4
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.TGM6 基因风险的显著增加对其是否导致脊髓小脑共济失调 35 型产生了怀疑。
Parkinsonism Relat Disord. 2019 Jun;63:42-45. doi: 10.1016/j.parkreldis.2019.01.013. Epub 2019 Jan 17.
5
TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.TGM6 可能不是遗传分析和功能研究导致的脊髓小脑共济失调的特定致病基因。
Gene. 2021 May 5;779:145495. doi: 10.1016/j.gene.2021.145495. Epub 2021 Feb 13.
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Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.脊髓小脑共济失调 35 型：TGM6 的新突变与临床和遗传特征。
Neurology. 2014 Oct 21;83(17):1554-61. doi: 10.1212/WNL.0000000000000909. Epub 2014 Sep 24.
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A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.迟发性小脑共济失调伴罕见 TGM6（SCA35）突变 p.R342W 的病例报告。
BMC Neurol. 2020 Nov 7;20(1):408. doi: 10.1186/s12883-020-01964-1.
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Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients.与TGM6相关的运动障碍的临床谱：48例患者汇总分析的新报告
J Neurosci Rural Pract. 2021 Sep 20;12(4):656-665. doi: 10.1055/s-0041-1734006. eCollection 2021 Oct.
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variants in Parkinson's disease: clinical findings and functional evidence.帕金森病中的变异：临床发现与功能证据
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Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.遗传性小脑共济失调 35 型（SCA35）伴新型移码突变
Cerebellum. 2019 Apr;18(2):291-294. doi: 10.1007/s12311-018-0978-6.

本文引用的文献

1
Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients.与TGM6相关的运动障碍的临床谱：48例患者汇总分析的新报告
J Neurosci Rural Pract. 2021 Sep 20;12(4):656-665. doi: 10.1055/s-0041-1734006. eCollection 2021 Oct.
2
TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.TGM6 可能不是遗传分析和功能研究导致的脊髓小脑共济失调的特定致病基因。
Gene. 2021 May 5;779:145495. doi: 10.1016/j.gene.2021.145495. Epub 2021 Feb 13.
3
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
迟发性小脑共济失调伴罕见 TGM6（SCA35）突变 p.R342W 的病例报告。
BMC Neurol. 2020 Nov 7;20(1):408. doi: 10.1186/s12883-020-01964-1.
4
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.TGM6 基因风险的显著增加对其是否导致脊髓小脑共济失调 35 型产生了怀疑。
Parkinsonism Relat Disord. 2019 Jun;63:42-45. doi: 10.1016/j.parkreldis.2019.01.013. Epub 2019 Jan 17.
5
Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.遗传性小脑共济失调 35 型（SCA35）伴新型移码突变
Cerebellum. 2019 Apr;18(2):291-294. doi: 10.1007/s12311-018-0978-6.
6
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.外显子组测序和网络分析确定了脊髓小脑共济失调的共同发病机制。
Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251.
7
Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.脊髓小脑共济失调 35 型：TGM6 的新突变与临床和遗传特征。
Neurology. 2014 Oct 21;83(17):1554-61. doi: 10.1212/WNL.0000000000000909. Epub 2014 Sep 24.
8
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.桑格测序和外显子组测序在诊断异质性疾病中的效用的事后比较。
Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18.
9
Transglutaminase 6 antibodies in the diagnosis of gluten ataxia.转谷氨酰胺酶 6 抗体在 gluten ataxia 诊断中的应用。
Neurology. 2013 May 7;80(19):1740-5. doi: 10.1212/WNL.0b013e3182919070. Epub 2013 Apr 10.
10
Mutations in PDYN are not responsible for multiple system atrophy.PDYN基因的突变与多系统萎缩无关。
J Neurol. 2013 Mar;260(3):927-8. doi: 10.1007/s00415-012-6830-x. Epub 2013 Jan 25.