Phenotypic Variability in Huntington's Disease

Anjali Chouksey; Sanjay Pandey

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Phenotypic Variability in Huntington's Disease

机译：亨廷顿疾病中的表型变异性

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Huntington's disease (HD) is a hereditary neurodegenerative disorder with an autosomal dominant inheritance pattern. It is characterized by a progressive course of the combination of motor, cognitive, and psychiatric manifestations. It is caused because of expansion of CAG trinucleotide repeat in the huntingtin (HTT) gene encoding the protein HTT on chromosome 4. The exact function of normal HTT protein and the mechanism by which mutant huntingtin (mHTT) gene produces manifestation in HD is still unclear. It has been proposed that the mHTT protein contains abnormal long polyglutamine sequences that result in the formation of HTT protein aggregates, which disrupts normal cell functions and ultimately culminates into neuronal loss and neurodegeneration. Current literature shows an important role in cellular aging and various aging-related genes, inducing the disease-specific phenotypes in HD patients.

机译：亨廷顿的疾病（HD）是一种遗传性神经退行性疾病，具有常染色体显性遗传模式。它的特点是运动，认知和精神病表现的组合的渐进过程。由于在编码染色体上的蛋白质HTT的蛋白质HTT中的CAG三核苷酸重复的CAG三核苷酸重复引起的造成的。正常HTT蛋白的确切功能和突变亨廷顿（MHTT）基因在高清中产生表现的机制仍不清楚。已经提出了MHTT蛋白质含有异常的长聚谷氨酰胺序列，其导致HTT蛋白质聚集体的形成，其破坏正常细胞功能并最终将终止于神经元损失和神经变性。目前的文献显示了细胞衰老和各种衰老相关基因中的重要作用，诱导高清患者的疾病特异性表型。

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《Annals of Indian Academy of Neurology》 |2020年第2期|共2页
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Anjali Chouksey; Sanjay Pandey;
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1. Chronic 5-Aminoimidazole-4-Carboxamide-1-β-d-Ribofuranoside Treatment Induces Phenotypic Changes in Skeletal Muscle, but Does Not Improve Disease Outcomes in the R6/2 Mouse Model of Huntington’s Disease [J] . Paré, Marie-France Frontiers in Neurology . 2017,第2016期

机译：慢性5-氨基咪唑-4-甲酰胺-1-β-d-核呋喃糖苷治疗可诱发骨骼肌表型变化，但不能改善亨廷顿舞蹈病R6 / 2小鼠模型的疾病结果
2. Chronic 5-Aminoimidazole-4-Carboxamide-1-β- d-Ribofuranoside Treatment Induces Phenotypic Changes in Skeletal Muscle, but Does Not Improve Disease Outcomes in the R6/2 Mouse Model of Huntington’s Disease [J] . Marie-France Paré, Bernard J. Jasmin Frontiers in Neurology . 2017,第1期

机译：慢性5-氨基咪唑-4-甲酰胺-1-β- d -核呋喃糖苷治疗可诱发骨骼肌表型变化，但不能改善亨廷顿舞蹈病R6 / 2小鼠模型的疾病结果
3. Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data. [J] . Sarah J Tabrizi, Rachael I Scahill, Gail Owen, Lancet Neurology . 2013,第7期

机译：TRACK-HD研究中预测性和早期亨廷顿舞蹈病的表型进展和疾病发作的预测因素：36个月观察数据的分析。
4. A Deep Gait Classification Approach for an Early Recognition of Huntington Diseases [C] . Giovanni Paragliola, Antonio Coronato International Conference on New Trends in Intelligent Software Methodologies, Tools and Techniques . 2018

机译：一种深入的步态分类方法，即早期识别亨廷顿疾病
5. Characterizing the Huntington's disease, Parkinson's disease, and pan-neurodegenerative gene expression signature with RNA sequencing [D] . Labadorf, Adam Thomas 2016

机译：利用RNA测序表征亨廷顿氏病，帕金森氏病和泛神经变性基因表达特征
6. Chronic 5-Aminoimidazole-4-Carboxamide-1-β-d-Ribofuranoside Treatment Induces Phenotypic Changes in Skeletal Muscle but Does Not Improve Disease Outcomes in the R6/2 Mouse Model of Huntington’s Disease [O] . Marie-France Paré, Bernard J. Jasmin 2017

机译：慢性5-氨基咪唑-4-甲酰胺-1-β-d-核呋喃糖苷治疗可诱发骨骼肌表型变化但不能改善亨廷顿舞蹈病R6 / 2小鼠模型的疾病结果
7. Chronic 5-Aminoimidazole-4-Carboxamide-1-β-d-Ribofuranoside Treatment Induces Phenotypic Changes in Skeletal Muscle, but Does Not Improve Disease Outcomes in the R6/2 Mouse Model of Huntington’s Disease [O] . Marie-France Paré, Bernard J. Jasmin 2017

机译：慢性5-氨基咪唑-4-甲酰胺-1-β-D-呋喃核糖苷治疗诱导骨骼肌的表型变化，但不会改善亨廷顿病R6 / 2小鼠模型的疾病结果

Phenotypic Variability in Huntington's Disease

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