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Think of SCA45 in Late-Onset Familial Ataxias: The First Report from the Indian Subcontinent with a Novel Variant.迟发性家族性共济失调中的脊髓小脑共济失调45型：来自印度次大陆的首例报告及一种新变异型
Mov Disord Clin Pract. 2022 Oct 10;9(8):1140-1143. doi: 10.1002/mdc3.13580. eCollection 2022 Nov.
2
Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?脊髓小脑共济失调45型会导致极晚发性单纯小脑共济失调吗？
Neurol Genet. 2021 Mar 26;7(3):e581. doi: 10.1212/NXG.0000000000000581. eCollection 2021 Jun.
3
Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.解析散发性迟发性小脑共济失调的病因：一项对诊断工作有启示意义的前瞻性研究。
J Neurol. 2017 Jun;264(6):1118-1126. doi: 10.1007/s00415-017-8500-5. Epub 2017 May 6.
4
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias.小脑性共济失调 2 型与晚发性小脑性共济失调之间扫视动力学的差异。
Brain. 2011 Mar;134(Pt 3):879-91. doi: 10.1093/brain/awr009.
5
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments.常染色体显性小脑共济失调：新基因和治疗进展。
Lancet Neurol. 2023 Aug;22(8):735-749. doi: 10.1016/S1474-4422(23)00068-6.
6
The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population.韩国人群中慢性进行性小脑共济失调的病因
J Clin Neurol. 2018 Jul;14(3):374-380. doi: 10.3988/jcn.2018.14.3.374.
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Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the gene.迟发性常染色体隐性遗传性小脑共济失调和神经病变，伴有该基因的一种新型剪接突变。
J Integr Neurosci. 2020 Mar 30;19(1):125-129. doi: 10.31083/j.jin.2020.01.1239.
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Hereditary ataxias and paraparesias: clinical and genetic update.遗传性共济失调和弛缓性截瘫：临床与遗传学最新进展。
Curr Opin Neurol. 2018 Aug;31(4):462-471. doi: 10.1097/WCO.0000000000000585.
9
Degenerative and acquired sporadic adult onset ataxia.退行性和获得性散发性成人发病的共济失调。
Neurol Sci. 2019 Jul;40(7):1335-1342. doi: 10.1007/s10072-019-03856-w. Epub 2019 Mar 29.
10
Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl.一名印度女孩因新型SNX14变异导致的常染色体隐性遗传性脊髓小脑共济失调20型
Am J Med Genet A. 2022 Jun;188(6):1909-1914. doi: 10.1002/ajmg.a.62701. Epub 2022 Feb 23.

引用本文的文献

1
A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.遗传性小脑共济失调的眼球运动异常综述。
Cerebellum. 2024 Apr;23(2):702-721. doi: 10.1007/s12311-023-01554-0. Epub 2023 Mar 31.

本文引用的文献

1
Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?脊髓小脑共济失调45型会导致极晚发性单纯小脑共济失调吗？
Neurol Genet. 2021 Mar 26;7(3):e581. doi: 10.1212/NXG.0000000000000581. eCollection 2021 Jun.
2
Bullous Pemphigoid Associated with Multiple System Atrophy: Case Series.大疱性类天疱疮与多系统萎缩：病例系列
Mov Disord Clin Pract. 2021 Feb 25;8(3):445-448. doi: 10.1002/mdc3.13160. eCollection 2021 Apr.
3
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.基于生物信息学的重复序列鉴定：RFC1 中的非参考内含子五聚体扩展导致 CANVAS。
Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.
4
Bullous pemphigoid.大疱性类天疱疮
An Bras Dermatol. 2019 Mar-Apr;94(2):133-146. doi: 10.1590/abd1806-4841.20199007. Epub 2019 May 9.
5
Novel mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).与红皮角化病和脊髓小脑共济失调（SCA 34）相关的新型突变。
Neurol Genet. 2018 Jul 26;4(4):e263. doi: 10.1212/NXG.0000000000000263. eCollection 2018 Aug.
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
When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan?我们应该在什么时候对患有家族性共济失调的患者进行SCA31检测？这是日本以外地区的误诊疾病吗？
J Neurol Sci. 2015 Aug 15;355(1-2):206-8. doi: 10.1016/j.jns.2015.05.016. Epub 2015 May 21.
8
Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia».脊髓小脑共济失调36型（SCA36）：“死亡海岸共济失调” 。
Neurologia. 2017 Jul-Aug;32(6):386-393. doi: 10.1016/j.nrl.2014.11.005. Epub 2015 Jan 13.
9
A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order.迟发性小脑共济失调的实用诊疗方法：将无序之症纳入正轨。
Pract Neurol. 2012 Feb;12(1):14-24. doi: 10.1136/practneurol-2011-000108.
10
MEGF1/fat2 proteins containing extraordinarily large extracellular domains are localized to thin parallel fibers of cerebellar granule cells.
Mol Cell Neurosci. 2002 Aug;20(4):563-78. doi: 10.1006/mcne.2002.1146.

Think of SCA45 in Late-Onset Familial Ataxias: The First Report from the Indian Subcontinent with a Novel Variant.

作者信息

Ganguly Jacky, Mukherjee Soumava, Basu Purba, Mondal Banashree, Chatterjee Koustav, Roy Akash, Pande Priyadarshini, Kumar Hrishikesh

机构信息

Movement Disorder Centre Institute of Neurosciences Kolkata Kolkata India.

Department of Neurology Institute of Neurosciences Kolkata Kolkata India.

出版信息

Mov Disord Clin Pract. 2022 Oct 10;9(8):1140-1143. doi: 10.1002/mdc3.13580. eCollection 2022 Nov.

DOI:10.1002/mdc3.13580
PMID:36339299
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9631847/
Abstract
摘要