非典型性脑白质高信号显著影响 GRN 患者的血浆神经丝轻链的变异性。
Atypical White Matter Hyperintensities Markedly Impact Plasma Neurofilament Light Chain Variability in GRN Patients.
机构信息
Sorbonne Université, Paris Brain Institute, Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225, APHP, Hôpital Pitié-Salpêtrière, Paris, France.
AP-HP, Reference Centre for Rare or Early onset Dementias, IM2A, Department of Neurology, Hôpital Pitié-Salpêtrière, Paris, France.
出版信息
J Alzheimers Dis. 2023;94(4):1351-1360. doi: 10.3233/JAD-230315.
GRN mutations, causing frontotemporal dementia, can be associated with atypical white matter hyperintensities (WMH). We hypothesized that the presence of WMH may impact neurofilament light chain (NfL) levels, markers of neuroaxonal damage. We analyzed plasma NfL in 20 GRN patients and studied their association to visually-scored WMH burden. The 12 patients displaying atypical WMH had significantly higher NfL levels (98.4±34.9 pg/mL) than those without WMH (47.2±29.4 pg/mL, p = 0.003), independently from age, disease duration and Fazekas-Schmidt grade. NfL correlated with WMH burden (rho = 0.55, p = 0.01). This study prompts considering WMH burden as a variability factor when evaluating NfL levels in GRN patients.
GRN 突变导致额颞叶痴呆，可与非典型性脑白质高信号（WMH）相关。我们假设 WMH 的存在可能会影响神经丝轻链（NfL）水平，这是神经轴突损伤的标志物。我们分析了 20 名 GRN 患者的血浆 NfL，并研究了它们与视觉评分 WMH 负担的关系。12 名表现出非典型性 WMH 的患者的 NfL 水平（98.4±34.9 pg/mL）显著高于没有 WMH 的患者（47.2±29.4 pg/mL，p=0.003），与年龄、疾病持续时间和 Fazekas-Schmidt 分级无关。NfL 与 WMH 负担呈正相关（rho=0.55，p=0.01）。这项研究提示，在评估 GRN 患者的 NfL 水平时，应将 WMH 负担视为一个变异性因素。
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