Ajitkumar Anitha, Lui Forshing, De Jesus Orlando
Gulf Medical University
CA Northstate Uni, College of Med
Huntington disease, an autosomal dominant inherited neurodegenerative disorder, is characterized by the clinical triad of involuntary choreiform movements with cognitive and behavioral disturbances. It occurs due to cytosine, adenine, and guanine (CAG) trinucleotide repeats on the short arm of chromosome 4p16.3 in the Huntingtin () gene. This mutation leads to an abnormally long polyglutamine expansion in the HTT protein's N-terminal fragment, which leads to neurodegeneration. The expansion also causes the HTT protein to be more prone to aggregation and accumulation, which mitigates protein folding. Huntington disease commonly affects patients between the ages of 30 to 50. However, the longer the CAG repeats, the earlier the onset of symptoms. The term juvenile Huntington disease refers to the onset of illness before the age of 20 and is characterized by learning difficulties as well as behavioral disturbances at school. Diagnosis can be made clinically in a patient with motor and or cognitive and behavioral disturbances with a parent diagnosed with Huntington disease and can be confirmed by DNA determination. Premanifest diagnosis can determine if they carry the gene in patients at risk for the disease. The disease has no cure, and affected patients tend to be entirely dependent on their caregivers as the disease progresses. Therefore, treatment aims to improve the quality of life and decrease complications. Pneumonia is a common cause of death, followed by suicide.
亨廷顿病是一种常染色体显性遗传的神经退行性疾病，其临床特征为不自主的舞蹈样动作、认知和行为障碍三联征。它是由4号染色体短臂4p16.3上亨廷顿（HTT）基因中的胞嘧啶、腺嘌呤和鸟嘌呤（CAG）三核苷酸重复序列所致。这种突变导致HTT蛋白N端片段出现异常长的聚谷氨酰胺扩展，进而引发神经退行性变。这种扩展还使HTT蛋白更易于聚集和积累，从而影响蛋白质折叠。亨廷顿病通常影响30至50岁的患者。然而，CAG重复序列越长，症状出现越早。青少年型亨廷顿病是指在20岁之前发病，其特征为学习困难以及在学校出现行为障碍。对于有运动和/或认知及行为障碍且父母一方被诊断为亨廷顿病的患者，可通过临床诊断，DNA检测可予以确诊。症状前诊断可确定有患病风险的患者是否携带该基因。这种疾病无法治愈，随着病情进展，患病患者往往完全依赖照料者。因此，治疗旨在提高生活质量并减少并发症。肺炎是常见的死亡原因，其次是自杀。
