与年龄相关的认知变化是儿童和青少年携带突变亨廷顿蛋白的 CAG 重复的功能。
Age-Related Cognitive Changes as a Function of CAG Repeat in Child and Adolescent Carriers of Mutant Huntingtin.
机构信息
Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
出版信息
Ann Neurol. 2021 May;89(5):1036-1040. doi: 10.1002/ana.26039. Epub 2021 Feb 22.
Abstract
Limited data exists regarding the disease course of Huntington's Disease (HD) in children and young adults. Here, we evaluate the trajectory of various cognitive skill development as a function of cytosine-adenine-guanine (CAG) repeat length in children and adolescents that carry the mutation that causes HD. We discovered that the development of verbal skills seems to plateau earlier as CAG repeat length increases. These findings increase our understanding of the relationship between neurodegeneration and neurodevelopment and may have far-reaching implications for future gene-therapy treatment strategies. ANN NEUROL 2021;89:1036-1040.
摘要
关于亨廷顿病（HD）在儿童和青年中的疾病进程，相关数据有限。在这里，我们评估了携带导致 HD 突变的儿童和青少年的各种认知技能发展轨迹作为胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复长度的函数。我们发现，随着 CAG 重复长度的增加，语言技能的发展似乎更早地达到平台期。这些发现增加了我们对神经退行性变和神经发育之间关系的理解，并且可能对未来的基因治疗策略产生深远的影响。ANN NEUROL 2021;89:1036-1040。
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