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Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ( IF 2.5 ) Pub Date : 2020-12-07
Helia Ghahremani Nezhad, John P. Franklin, James J. P. Alix, Tobias Moll, Michael Pattrick, Johnathan Cooper-Knock, Priya Shanmugarajah, Nick J. Beauchamp, Marios Hadjivissiliou, David Paling, Christopher Mcdermott, Pamela J. Shaw, Thomas M. Jenkins

Abstract

Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) share a common molecular basis: both are associated with CAG-repeat expansion of ATXN2 and TDP-43-positive neuronal cytoplasmic inclusions. To date, the two disorders are viewed as clinically distinct with ALS resulting from 30-33 CAG-repeats and SCA2 from >34 CAG-repeats. We describe a 67-year old with a 32 CAG-repeat expansion of ATXN2 who presented with simultaneous symptoms of ALS and SCA2. Our case demonstrates that the clinical dichotomy between SCA2 and ATXN2-ALS is false. We suggest instead that CAG-repeat expansion length determines the timing of SCA2 clinical symptoms relative to onset of ALS; consistent with this age of onset of SCA2 but not ATXN2-ALS, is dependent upon expansion length. Review of the literature and our local cohort provides evidence for occurrence of ALS in late stage SCA2, which may be under-recognised by clinicians who think of the two diseases as distinct.



中文翻译:

同时ALS和SCA2与中等长度ATXN2 CAG重复扩展相关

摘要

2型脊髓小脑共济失调(SCA2)和肌萎缩性侧索硬化症(ALS)具有共同的分子基础:两者均与ATXN2和TDP-43阳性神经元胞浆内含物的CAG重复扩增有关。迄今为止,这两种疾病被认为在临床上与30-33个CAG重复产生的ALS和> 34个CAG重复产生的SCA2在临床上不同。我们描述了一个67岁的ATXN2具有32个CAG重复扩增的人,人同时出现ALS和SCA2症状。我们的案例表明,SCA2和ATXN2- ALS之间的临床二分法是错误的。相反,我们建议CAG重复扩展长度决定SCA2临床症状相对于ALS发作的时间。与此年龄的SCA2一致,但与ATXN2不一致-ALS,取决于扩展长度。对文献和我们当地队列的回顾提供了在SCA2晚期发生ALS的证据,认为这两种疾病截然不同的临床医生可能对此认识不足。

更新日期:2020-12-07
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