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一系列新的病例表明SCA48 (ATX/STUB1) 主要是一种单一性疾病

Teije H van Prooije¹, Maartje Pennings², Lucille Dorresteijn³

¹Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.

Movement disorders : official journal of the Movement Disorder Society

|July 8, 2024

概括

致病性STUB1变种会导致小脑动 (SCA48). 虽然大部分是单一的,但在一些患者中,TBP重复扩张与严重的认知障碍相关,这表明它起到了修改作用.

科学领域:

遗传学遗传学是一个
神经学神经学

背景情况:

自体主导大脑动症 (ATX-STUB1/SCA48) 是由单基致病性STUB1变体引起的.
在STUB1变体和中等/高正常TBP重复 (TATA结合蛋白) 之间存在潜在的遗传相互作用,这表明二基遗传或疾病修饰.

研究的目的:

为了研究中等或高正常的TBP重复扩张的患病率和临床影响,在患有无氧性和异性STUB1变体的患者中.

主要方法:

研究了21名被诊断患有无氧症并携带异性STUB1变种的患者.
确定了所有研究患者的TBP重复长度.

主要成果:

21名患者中有15名 (71%) 具有正常的TBP等位基因 (<40次重复).
4名患者 (19%) 具有中间的TBP等位基因 (41-42次重复).
2名患者 (9.5%) 具有高正常的TBP等位基因 (40次重复).
值得注意的是,6名患者中有5名 (83%) 具有STUB1变体和TBP 40-42等位基因,表现出显著的认知障碍.

结论:

SCA48主要是一种单一性疾病,大多数患者由于孤立的STUB1变异而出现动力衰竭和认知功能障碍.
然而,TBP 41-42或高正常TBP 40等位基因的同时出现是常见的 (28.5%) 并与明显的认知缺陷有关,表明SCA48临床表现的潜在修饰作用.

关键词:

过敏性过敏症 (ataxia) 是一种导致过敏性过敏的疾病.遗传学遗传学遗传学是一个

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