Servicio de Neurología, Hospital General Universitario Dr. Balmis, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), 03010 Alicante, Spain.
Laboratorio de Apoyo a la Investigación, Hospital General Universitario Dr. Balmis, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), 03010 Alicante, Spain.
Int J Mol Sci. 2022 May 12;23(10):5411. doi: 10.3390/ijms23105411.
Huntington's disease (HD) is a devastating neurodegenerative disorder that is caused by an abnormal expansion of CAG repeats in the Huntingtin () gene. Although the main symptomatology is explained by alterations at the level of the central nervous system, predominantly affecting the basal ganglia, a peripheral component of the disease is being increasingly acknowledged. Therefore, the manifestation of the disease is complex and variable among CAG expansion carriers, introducing uncertainty in the appearance of specific signs, age of onset and severity of disease. The monogenic nature of the disorder allows a precise diagnosis, but the use of biomarkers with prognostic value is still needed to achieve clinical management of the patients in an individual manner. In addition, we need tools to evaluate the patient's response to potential therapeutic approaches. In this review, we provide a succinct summary of the most interesting molecular biomarkers that have been assessed in patients, mostly obtained from body fluids such as cerebrospinal fluid, peripheral blood and saliva.
亨廷顿病（HD）是一种破坏性的神经退行性疾病，由亨廷顿基因（）中 CAG 重复异常扩增引起。尽管中枢神经系统水平的改变主要解释了主要的症状学，主要影响基底神经节，但疾病的外周成分正越来越受到认可。因此，在 CAG 扩展携带者中，疾病的表现复杂且多变，导致特定体征、发病年龄和疾病严重程度出现不确定性。该疾病的单基因性质允许进行精确诊断，但仍需要具有预后价值的生物标志物来实现对患者的个体化临床管理。此外，我们还需要工具来评估患者对潜在治疗方法的反应。在这篇综述中，我们提供了已在患者中评估的最有趣的分子生物标志物的简明总结，这些标志物主要来自脑脊液、外周血和唾液等体液。
