Development of biomarkers for Charcot‐Marie‐Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A recent report (Neurology 2018;90:e518–3524) showed elevation of neurofilament light (NfL) in plasma of CMT1A disease patients, which correlated with disease severity. However, no plasma/serum biomarker has been identified that is specific to Schwann cells, the most directly affected cells in CMT1A.

中文翻译：

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跨膜蛋白酶丝氨酸 5：CMT1A 的新型雪旺细胞血浆标记物。


腓骨肌萎缩症 (CMT) 生物标志物的开发对于实施有效的临床试验至关重要。 CMT 最常见的形式是 1A 型，是由 PMP22 基因周围的基因组重复引起的。最近的一份报告 (Neurology 2018;90:e518–3524) 显示 CMT1A 疾病患者血浆中神经丝光 (NfL) 升高，这与疾病严重程度相关。然而，尚未鉴定出针对雪旺细胞（CMT1A 中最直接受影响的细胞）的血浆/血清生物标志物。