BACKGROUND Spinal muscular atrophy (SMA) is a genetic motor neuron disease related to deletions in the SMN1 gene. There is mounting evidence that the disease is not restricted to motor neurons. In this neuroimaging study, we aimed to investigate the presence of in-vivo cerebellar damage in adult SMA patients not treated with disease-modifying treatment. METHODS Twenty-five molecularly confirmed patients with SMA type III or IV and 25 healthy controls underwent MRI with cerebellar focused structural analysis by the CERES automated pipeline. Volumetry (total and gray matter-GM) as well as cortical thickness of the cerebellar lobules were compared in both groups. Full clinical and demographic data were then assessed for correlations with cerebellar imaging findings. RESULTS Volumes of cerebellar lobules VIIIB (right), IX and X were significantly smaller in patients with SMA. Lobule IX also had GM atrophy in comparison to controls. We found no significant correlation between clinical findings and cerebellar damage. CONCLUSIONS Neuroimaging detects cerebellar structural changes in adult SMA patients, suggesting that neurodegeneration is not confined to the lower motor neurons in the disease.

中文翻译：

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成人脊髓性肌萎缩症患者的小脑变性。

背景技术脊髓性肌萎缩症（SMA）是一种遗传运动神经元疾病，与SMN1基因的缺失有关。越来越多的证据表明，这种疾病不仅限于运动神经元。在这项神经影像学研究中，我们旨在研究未经疾病改良治疗的成年SMA患者体内小脑损伤的存在。方法25名分子确诊的SMA III型或IV型患者和25名健康对照者通过CERES自动化管道进行了MRI，并进行了小脑聚焦结构分析。比较两组的体积（总和灰质-GM）以及小脑小叶的皮质厚度。然后评估完整的临床和人口统计学数据与小脑影像学发现的相关性。结果小脑小叶VIIIB的体积（右），SMA患者的IX和X显着较小。与对照组相比，小叶IX还患有GM萎缩。我们发现临床发现与小脑损伤之间无显着相关性。结论神经影像学可以检测成年SMA患者的小脑结构变化，这表明神经退行性变不仅限于该疾病的下运动神经元。