Ginanneschi Federica, Casali Stefania, Cioni Chiara, Righi Delia, Emmanuello Emanuele, Toccaceli Cecilia, Plantone Domenico, De Stefano Nicola
Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy.
Brain Sci. 2025 Feb 27;15(3):258. doi: 10.3390/brainsci15030258.
The relationship between routine cerebrospinal fluid (CSF) testing and clinical and prognostic data in amyotrophic lateral sclerosis (ALS) remains unclear. Additionally, biochemical data have never been correlated with markers of neurodegeneration. The purpose of this study is to determine whether lumbar puncture may still have clinical utility in ALS. We collected the CSF profiles of 140 ALS subjects. CSF protein, albumin, IgG, IgG index, albumin quotient (QAlb), t-tau, p-tau, and Aβ42 were analyzed. Approximately one-quarter of ALS patients had elevated levels of protein, albumin, and QAlb in the CSF, but these were not associated with clinical or survival data. Among the neurodegeneration markers, the percentage of patients with abnormal values ranged from 26.3% to 35.4%. The p-tau/t-tau ratio and Aβ42 were correlated with both the ALS progression rate and the time from diagnosis to death. Aβ42 was the prognostic marker most strongly associated with survival. The lack of correlation between biochemical CSF findings and the clinical and/or prognostic status of ALS suggests that these markers have no clinical value. However, neurodegeneration markers that are easily measurable in clinical laboratories, particularly Aβ42, may be useful at the time of diagnosis for predicting ALS survival and progression rate.
在肌萎缩侧索硬化症（ALS）中，常规脑脊液（CSF）检测与临床及预后数据之间的关系仍不明确。此外，生化数据从未与神经退行性变的标志物相关联。本研究的目的是确定腰椎穿刺在ALS中是否仍具有临床实用性。我们收集了140例ALS患者的脑脊液资料。分析了脑脊液中的蛋白质、白蛋白、免疫球蛋白G（IgG）、IgG指数、白蛋白商（QAlb）、总tau蛋白（t-tau）、磷酸化tau蛋白（p-tau）和β淀粉样蛋白42（Aβ42）。约四分之一的ALS患者脑脊液中的蛋白质、白蛋白和QAlb水平升高，但这些与临床或生存数据无关。在神经退行性变标志物中，异常值患者的比例在26.3%至35.4%之间。p-tau/t-tau比值和Aβ42与ALS进展率以及从诊断到死亡的时间均相关。Aβ42是与生存最密切相关的预后标志物。脑脊液生化检查结果与ALS的临床和/或预后状况缺乏相关性，提示这些标志物无临床价值。然而，在临床实验室中易于检测的神经退行性变标志物，尤其是Aβ42，在诊断时可能有助于预测ALS的生存和进展率。
