夏尔沃 - 萨格奈常染色体隐性痉挛性共济失调（ARSACS）：该基因新型无义突变的病例报告 - Suppr

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the Gene.

作者信息

Agarwal Ayush, Garg Divyani, Kharat Akash, Qavi Abdul

机构信息

Department of Neurology, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Department of Neurology, Lady Hardinge Medical College, New Delhi, Delhi, India.

出版信息

Ann Indian Acad Neurol. 2020 May-Jun;23(3):395-397. doi: 10.4103/aian.AIAN_670_19. Epub 2020 May 9.

DOI:10.4103/aian.AIAN_670_19

PMID:32606552

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7313614/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b374/7313614/d0bcc4cd0c77/AIAN-23-395-g001.jpg

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Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.记录常染色体隐性痉挛性共济失调的临床表现和影响，以开发患者报告的结局。

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本文引用的文献

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.查尔洛夫-萨格奈痉挛性共济失调的临床表现和早期演变。

Mov Disord. 2013 Dec;28(14):2011-4. doi: 10.1002/mds.25604. Epub 2013 Aug 2.

Autosomal recessive ataxias: 20 types, and counting.常染色体隐性共济失调：已达20种，且数量还在增加。

Arq Neuropsiquiatr. 2009 Dec;67(4):1143-56. doi: 10.1590/s0004-282x2009000600036.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.夏尔沃-萨格奈常染色体隐性痉挛性共济失调：5例患者的磁共振成像报告

AJNR Am J Neuroradiol. 2007 Sep;28(8):1606-8. doi: 10.3174/ajnr.A0603.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.夏尔沃-萨格奈常染色体隐性痉挛性共济失调

Neuropathology. 2006 Aug;26(4):368-75. doi: 10.1111/j.1440-1789.2006.00664.x.

Identification of a SACS gene missense mutation in ARSACS.遗传性痉挛性共济失调中SACS基因错义突变的鉴定。

Neurology. 2004 Jan 13;62(1):107-9. doi: 10.1212/01.wnl.0000099371.14478.73.

ARSACS goes global.遗传性痉挛性共济失调（ARSACS）走向全球。

Neurology. 2004 Jan 13;62(1):10-1. doi: 10.1212/wnl.62.1.10.

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.突尼斯与Sacsin相关的常染色体隐性共济失调的表型特征和基因研究结果

Arch Neurol. 2003 Jul;60(7):982-8. doi: 10.1001/archneur.60.7.982.

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Genet Test. 2001 Fall;5(3):255-9. doi: 10.1089/10906570152742326.

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.ARSACS是魁北克省东北部常见的一种痉挛性共济失调，由一个编码11.5kb开放阅读框的新基因突变引起。

Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769.

Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).弗里德赖希共济失调和魁北克-萨格奈常染色体隐性痉挛性共济失调（ARSACS）的肌电图和神经传导研究

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