Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain.
ALS Unit, Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Sci Rep. 2017 Aug 2;7(1):7119. doi: 10.1038/s41598-017-07835-z.
Hyperechogenicity of substantia nigra (SNh) is a frequent finding in amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD) and other movement disorders (MD) patients, but its meaning is unclear. To ascertain the contribution of different factors to SNh area, we measured it in 108 ALS, 102 PD, 91 other MD patients and 91 healthy controls. Demographical data were collected in all patients and controls. In ALS patients, we also recorded clinical variables, performed genetic analysis and measured baseline levels of ferritin. After family history and genetic testing, ALS patients were classified as familial (15) or sporadic (93). ALS, PD and other MD patients had a larger SNh area than controls. Left SNh and male gender, but not age, associated with larger SNh area in both patients and controls. Familial ALS patients showed larger SNh area than sporadic ones and familial ALS was the only clinical variable in the multivariate analysis to be associated with larger SNh area in ALS patients. Our results suggest that SNh associates with genetic and constitutional factors (male gender, handedness), some of which predispose to certain neurodegenerative diseases. This evidence supports the idea of SNh as an inborn marker of unspecific neuronal vulnerability.
黑质超声回声增强是肌萎缩侧索硬化症（ALS）、帕金森病（PD）和其他运动障碍（MD）患者的常见表现，但其意义尚不清楚。为了确定不同因素对黑质面积的影响，我们在 108 名 ALS 患者、102 名 PD 患者、91 名其他 MD 患者和 91 名健康对照组中测量了黑质面积。所有患者和对照组均收集了人口统计学数据。在 ALS 患者中，我们还记录了临床变量，进行了基因分析，并测量了铁蛋白的基线水平。在排除家族史和基因检测后，将 ALS 患者分为家族性（15 例）和散发性（93 例）。与对照组相比，ALS、PD 和其他 MD 患者的黑质面积更大。左黑质和男性性别，而不是年龄，与患者和对照组的黑质面积增大相关。家族性 ALS 患者的黑质面积大于散发性 ALS 患者，且在 ALS 患者的多变量分析中，家族性 ALS 是唯一与黑质面积增大相关的临床变量。我们的结果表明，黑质与遗传和体质因素（性别、利手性）有关，其中一些因素易患某些神经退行性疾病。这一证据支持黑质作为非特异性神经元易损性的先天标志物的观点。
