Center for the Investigation and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Center for Sports Medicine, Holguín, Cuba.
Mov Disord. 2021 Jun;36(6):1372-1380. doi: 10.1002/mds.28498. Epub 2021 Feb 6.
Spinocerebellar ataxia type 2 is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene. Although weight loss has been associated with disease progression in several neurodegenerative conditions, it has been barely assessed in patients with spinocerebellar ataxia type 2.
The objective of this study was to test whether body mass index is altered in patients with spinocerebellar ataxia type 2 with varying expansion sizes from early to late disease stages.
A cross-sectional case-control study was performed, which included 222 clinically and molecularly diagnosed patients and 214 sex- and age-matched healthy individuals. ATXN2 genotypes and sex were considered as risk factors. Clinical outcomes included the body mass index, age at onset, disease duration, Scale for the Assessment and Rating of Ataxia score, disease stage, dysphagia, and progression rate. Multiple linear regression models were generated.
Body mass index was significantly decreased in male patients, but not in female patients, relative to control subjects. In addition to sex, body mass index was significantly associated with age at onset and progression rate. Conversely, body mass index, along with repeat length in ATXN2 expanded alleles and disease duration, was associated with Scale for the Assessment and Rating of Ataxia score. In addition, body mass index, along with the age at onset and the repeat length in ATXN2 normal and expanded alleles, has a significant influence on progression rate.
Body mass index might be a useful biomarker of disease severity, particularly in male patients with spinocerebellar ataxia type 2 in the context of nutritional interventions or clinical trials assessing the efficacy of promising new drugs. © 2021 International Parkinson and Movement Disorder Society.
脊髓小脑性共济失调 2 型是一种进行性神经退行性疾病，由 ATXN2 基因中 CAG 重复不稳定扩增引起。尽管在几种神经退行性疾病中，体重减轻与疾病进展相关，但在脊髓小脑性共济失调 2 型患者中几乎没有进行评估。
本研究旨在测试 ATXN2 基因不同扩展大小的脊髓小脑性共济失调 2 型患者的体重指数是否在疾病早期到晚期阶段发生改变。
进行了一项横断面病例对照研究，纳入了 222 例临床和分子诊断的患者和 214 名性别和年龄匹配的健康个体。将 ATXN2 基因型和性别视为危险因素。临床结局包括体重指数、发病年龄、疾病持续时间、共济失调评估量表评分、疾病分期、吞咽困难和进展率。生成了多个线性回归模型。
与对照组相比，男性患者的体重指数显著降低，但女性患者则没有。除性别外，体重指数与发病年龄和进展率显著相关。相反，体重指数与 ATXN2 扩增等位基因的重复长度和疾病持续时间与共济失调评估量表评分相关。此外，体重指数与发病年龄和 ATXN2 正常和扩增等位基因的重复长度对进展率有显著影响。
体重指数可能是疾病严重程度的有用生物标志物，特别是在考虑营养干预或评估有前途的新药疗效的临床试验中，对男性脊髓小脑性共济失调 2 型患者具有重要意义。 © 2021 国际帕金森病和运动障碍学会。
