Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, MD 20892, USA.
Genes (Basel). 2022 May 24;13(6):936. doi: 10.3390/genes13060936.
We describe evidence of fatty liver disease in patients with forms of motor neuron degeneration with both genetic and sporadic etiology compared to controls. A group of 13 patients with motor neuron disease underwent liver imaging and laboratory analysis. The cohort included five patients with hereditary spastic paraplegia, four with sporadic amyotrophic lateral sclerosis (ALS), three with familial ALS, and one with primary lateral sclerosis. A genetic mutation was reported in nine of the thirteen motor neuron disease (MND) patients. Fatty liver disease was detected in 10 of 13 (77%) MND patients via magnetic resonance spectroscopy, with an average dome intrahepatic triacylglycerol content of 17% (range 2-63%, reference ≤5.5%). Liver ultrasound demonstrated evidence of fatty liver disease in 6 of the 13 (46%) patients, and serum liver function testing revealed significantly elevated alanine aminotransferase levels in MND patients compared to age-matched controls. Fatty liver disease may represent a non-neuronal clinical component of various forms of MND.
我们描述了与对照组相比，具有遗传和散发性病因的运动神经元变性患者的脂肪肝疾病证据。一组 13 名运动神经元病患者接受了肝脏成像和实验室分析。该队列包括五名遗传性痉挛性截瘫患者、四名散发性肌萎缩侧索硬化症（ALS）患者、三名家族性 ALS 患者和一名原发性侧索硬化症患者。13 名运动神经元病（MND）患者中有 9 名报告存在基因突变。通过磁共振波谱检查，13 名 MND 患者中有 10 名（77%）检测到脂肪肝疾病，平均肝内三酰甘油含量为 17%（范围为 2-63%，参考值≤5.5%）。肝脏超声显示 13 名患者中有 6 名（46%）存在脂肪肝疾病，血清肝功能检查显示 MND 患者的丙氨酸氨基转移酶水平明显高于年龄匹配的对照组。脂肪肝疾病可能代表各种形式的 MND 的非神经元临床成分。
