Nishio H, Kodama S, Tsubota T, Takumi T, Takahashi T, Yokoyama S, Matsuo T
J Neurol. 1985;232(5):265-70. doi: 10.1007/BF00313862.
Fatty acids of plasma and erythrocyte membrane sphingomyelin were determined by gas chromatography-mass spectrometry in adrenoleukodystrophy (ALD) without adrenal insufficiency. Mass chromatogram tracing with the ion at m/z 143 [(CH2)6COOH3]+ showed increases of saturated very long chain fatty acids in plasma and erythrocyte membrane sphingomyelin in ALD. The C26:0/C22:0 ratios in plasma were 0.121, 0.057 and 0.007 in cases 1 and 2, and a control subject, respectively. The C26:0/C22:0 ratios in erythrocyte membrane sphingomyelin were 0.386, 0.211 and 0.093 in cases 1 and 2 and the control subject, respectively. The demyelinating process of ALD was clearly observed in both the inversion recovery 2100/500 and spin echo 2100/80 scans on magnetic resonance imaging. The magnetic resonance image in case 1 revealed widespread demyelinated lesions, involving almost the entire cerebrum and cerebellum, at 4 years after the onset, while that in case 2 revealed demyelinated lesions mainly limited to parieto-occipital areas at 1 year after the onset.
采用气相色谱 - 质谱联用技术测定了无肾上腺功能不全的肾上腺脑白质营养不良（ALD）患者血浆和红细胞膜鞘磷脂中的脂肪酸。以质荷比为143 [(CH2)6COOH3]+ 的离子进行质量色谱图追踪显示，ALD患者血浆和红细胞膜鞘磷脂中的饱和超长链脂肪酸增加。病例1、病例2和1名对照受试者血浆中的C26:0/C22:0比值分别为0.121、0.057和0.007。病例1、病例2和对照受试者红细胞膜鞘磷脂中的C26:0/C22:0比值分别为0.386、0.211和0.093。在磁共振成像的反转恢复2100/500和自旋回波2100/80扫描中均清晰观察到ALD的脱髓鞘过程。病例1的磁共振图像显示，发病4年后出现广泛的脱髓鞘病变，几乎累及整个大脑和小脑，而病例2的磁共振图像显示，发病1年后脱髓鞘病变主要局限于顶枕区。
