Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
J Clin Neurosci. 2021 Apr;86:58-63. doi: 10.1016/j.jocn.2020.12.025. Epub 2021 Jan 27.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 triplets in the IT-15 gene, with a clinical onset usually in the forties. Late-onset form of HD is defined as disease onset after the age of 59 years. The aim of the present study is to investigate the clinical-demographic features of Late-onset HD population (LoHD) in comparison to Classic-onset patients (CoHD). We analyzed a well-characterized Italian cohort of 127 HD patients, identifying 25.2% of LoHD cases. The mean age of onset was 65.9 and the mean length of pathological allele was 42.2. The 53.1% of LoHD patients had no family history of HD. No significant differences were observed in terms of gender, type of symptoms at disease onset, and clinical performance during the follow-up visits. The non-pathological allele resulted longer among LoHD patients. There is evidence that longer non-pathological allele is associated with a higher volume of basal ganglia, suggesting a possible protective role even in the onset of HD. In conclusion, LoHD patients in this Italian cohort were frequent, representing a quarter of total cases, and showed clinical features comparable to CoHD subjects. Due to the small sample size, further studies are needed to evaluate the influence of non-pathological alleles on disease onset.
亨廷顿病（HD）是一种常染色体显性神经退行性疾病，由 IT-15 基因中 CAG 扩展超过 35 个三联体引起，临床发病通常在四十多岁。迟发性 HD 定义为发病年龄在 59 岁以后。本研究旨在比较迟发性 HD 人群（LoHD）与经典发病患者（CoHD）的临床-人口统计学特征。我们分析了一个具有良好特征的意大利 HD 患者队列，确定了 25.2%的 LoHD 病例。发病年龄的平均值为 65.9 岁，病理性等位基因的平均值为 42.2。53.1%的 LoHD 患者没有 HD 的家族史。在性别、疾病发病时的症状类型和随访期间的临床表现方面没有观察到显著差异。LoHD 患者的非病理性等位基因较长。有证据表明，较长的非病理性等位基因与基底节体积更大有关，这表明即使在 HD 发病时，也可能具有保护作用。总之，意大利队列中的 LoHD 患者很常见，占总病例的四分之一，表现出与 CoHD 患者相似的临床特征。由于样本量小，需要进一步研究来评估非病理性等位基因对疾病发病的影响。
