与C9orf72基因大片段重复扩增相关的纯小脑性共济失调 - Suppr

Pure cerebellar ataxia linked to large C9orf72 repeat expansion.

作者信息

Corcia Philippe, Vourc'h Patrick, Guennoc Anne-Marie, Del Mar Amador Maria, Blasco Hélène, Andres Christian, Couratier Philippe, Gordon Paul H, Meininger Vincent

机构信息

a Centre SLA , CHU Tours .

b UMR INSERM U930 , Université François-Rabelais de Tours , Tours .

出版信息

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):301-3. doi: 10.3109/21678421.2015.1113298. Epub 2015 Nov 26.

DOI:10.3109/21678421.2015.1113298

PMID:26609732

Abstract

摘要

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相似文献

Pure cerebellar ataxia linked to large C9orf72 repeat expansion.

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):301-3. doi: 10.3109/21678421.2015.1113298. Epub 2015 Nov 26.

C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome.

J Neurol Sci. 2014 Dec 15;347(1-2):322-4. doi: 10.1016/j.jns.2014.10.042. Epub 2014 Nov 6.

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

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Neurobiol Aging. 2012 Sep;33(9):2232.e11-2232.e18. doi: 10.1016/j.neurobiolaging.2012.05.002. Epub 2012 Jun 5.

Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion.

J Neurol Sci. 2008 Oct 15;273(1-2):15-8. doi: 10.1016/j.jns.2008.06.003. Epub 2008 Aug 6.

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J Alzheimers Dis. 2013;34(2):485-99. doi: 10.3233/JAD-121456.

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Can J Neurol Sci. 2014 Nov;41(6):759-62. doi: 10.1017/cjn.2014.39. Epub 2014 Nov 4.

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Neurobiol Aging. 2013 Dec;34(12):2890.e7-2890.e12. doi: 10.1016/j.neurobiolaging.2013.06.009. Epub 2013 Jul 17.

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Neurology. 2015 Nov 17;85(20):1780-8. doi: 10.1212/WNL.0000000000002135. Epub 2015 Oct 23.

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Bipolar Disord. 2014 Jun;16(4):448-9. doi: 10.1111/bdi.12169. Epub 2013 Dec 16.

引用本文的文献

Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice.

Mol Cell Neurosci. 2022 Jul;121:103756. doi: 10.1016/j.mcn.2022.103756. Epub 2022 Jul 16.

Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD - a Systematic Review and Meta-Analysis.

Cerebellum. 2022 Aug;21(4):681-714. doi: 10.1007/s12311-021-01320-0. Epub 2021 Sep 7.

Looking beneath the surface: the importance of subcortical structures in frontotemporal dementia.

Brain Commun. 2021 Jul 16;3(3):fcab158. doi: 10.1093/braincomms/fcab158. eCollection 2021.

Selective neuronal degeneration in MATR3 S85C knock-in mouse model of early-stage ALS.

Nat Commun. 2020 Oct 20;11(1):5304. doi: 10.1038/s41467-020-18949-w.

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Neurosci Bull. 2020 Sep;36(9):1057-1070. doi: 10.1007/s12264-020-00567-7. Epub 2020 Aug 29.

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Trends Neurosci. 2019 Oct;42(10):693-708. doi: 10.1016/j.tins.2019.08.005. Epub 2019 Sep 5.

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Nat Commun. 2019 Jul 2;10(1):2906. doi: 10.1038/s41467-019-10956-w.

C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

Mov Disord Clin Pract. 2018 Nov 8;5(6):575-585. doi: 10.1002/mdc3.12677. eCollection 2018 Nov-Dec.

The Emerging Role of DNA Damage in the Pathogenesis of the C9orf72 Repeat Expansion in Amyotrophic Lateral Sclerosis.

Int J Mol Sci. 2018 Oct 12;19(10):3137. doi: 10.3390/ijms19103137.

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.

BMC Neurol. 2018 Jan 9;18(1):3. doi: 10.1186/s12883-017-1009-9.

Pure cerebellar ataxia linked to large C9orf72 repeat expansion.

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