Department of Neurology and Institute of Neurology, First Affiliated Hospital of Fujian Medical University, 20 Chazhong Road, Fuzhou, 350005, China.
Fujian Key Laboratory of Molecular Neurology, 20 Chazhong Road, Fuzhou, 350005, China.
Cerebellum. 2018 Aug;17(4):494-498. doi: 10.1007/s12311-018-0929-2.
Spinocerebellar ataxia type 3 (SCA3), the most common subtype of SCA worldwide, is caused by mutation of CAG repeats expansion in ATXN3. Body mass index (BMI) is an important modulatory factor in the progression of neurodegenerative disorders such as Huntington disease and amyotrophic lateral sclerosis. However, its relevance in SCA3 is not well understood. In this study, BMI was investigated in 134 molecularly confirmed SCA3 patients and 136 healthy controls from China. The multivariable linear regression models were performed to establish the putative risk factors for BMI, and whether BMI could affect the severity of ataxia. We found that BMI was significantly lower in the case group than that in the control group. The age at onset (positive correlation) and severity of ataxia (negative correlation) were the risk factors affecting BMI. Conversely, BMI along with the disease duration, the age at onset, and the numbers of CAG repeats could also have influence on the severity of ataxia. In conclusion, SCA3 patients had lower BMI than matched controls and BMI is a predictor of disease progression in SCA3. Nutritional intervention to promote weight gain could be a promising strategy to impede SCA3 progression.
脊髓小脑性共济失调 3 型（SCA3）是全球最常见的 SCA 亚型，由 ATXN3 中 CAG 重复扩展突变引起。体重指数（BMI）是亨廷顿病和肌萎缩侧索硬化等神经退行性疾病进展的重要调节因素。然而，其在 SCA3 中的相关性尚不清楚。本研究在中国对 134 名经分子证实的 SCA3 患者和 136 名健康对照者进行了 BMI 调查。采用多变量线性回归模型确定 BMI 的潜在危险因素，以及 BMI 是否会影响共济失调的严重程度。我们发现病例组的 BMI 明显低于对照组。发病年龄（正相关）和共济失调严重程度（负相关）是影响 BMI 的危险因素。相反，BMI 以及疾病持续时间、发病年龄和 CAG 重复次数也可能对共济失调的严重程度产生影响。总之，SCA3 患者的 BMI 低于匹配对照组，BMI 是 SCA3 疾病进展的预测因子。促进体重增加的营养干预可能是阻止 SCA3 进展的有前途的策略。
