Lin D D M, Crawford T O, Lederman H M, Barker P B
Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Neuropediatrics. 2006 Aug;37(4):241-6. doi: 10.1055/s-2006-924722.
Ataxia-telangiectasia (A-T) is a recessively inherited neurodegenerative disorder with prominent progressive ataxia and cerebellar degeneration, as well as manifest abnormalities of tone, posture, and movement suggesting extrapyramidal dysfunction. In this study, we tested the hypothesis that regional metabolite levels, as measured by proton magnetic resonance spectroscopic imaging, would be abnormal in patients with A-T in the posterior fossa and basal ganglia, reflecting the underlying neurodegenerative processes in these regions.
Spectroscopic images of N-acetyl aspartate (NAA), choline (Cho), and creatine (Cr) were obtained in 8 patients with A-T and 8 age-matched controls. Normalized metabolite levels were compared between A-T patients and control subjects in various regions of interest, including the cerebellum, brainstem, and basal ganglia.
A-T patients were distinguished from controls by the profound loss of all metabolites in the cerebellar vermis (NAA, p < 0.01; Cr and Cho, p < 0.05) and a trend for decreased metabolites within the cerebellar hemispheres. No abnormalities were detected in the basal ganglia.
Proton MR spectroscopic features in A-T closely correlate with the morphologic neuroimaging findings of posterior fossa atrophy. Although symptoms suggesting extrapyramidal dysfunction are part of the A-T phenotype, these are not associated with altered metabolite levels in the basal ganglia.
共济失调毛细血管扩张症（A-T）是一种隐性遗传性神经退行性疾病，具有明显的进行性共济失调和小脑变性，以及提示锥体外系功能障碍的肌张力、姿势和运动明显异常。在本研究中，我们检验了以下假设：通过质子磁共振波谱成像测量的区域代谢物水平在A-T患者的后颅窝和基底节会出现异常，反映这些区域潜在的神经退行性过程。
对8例A-T患者和8例年龄匹配的对照者进行了N-乙酰天门冬氨酸（NAA）、胆碱（Cho）和肌酸（Cr）的波谱成像。比较了A-T患者和对照者在包括小脑、脑干和基底节在内的各个感兴趣区域的标准化代谢物水平。
A-T患者与对照者的区别在于小脑蚓部所有代谢物显著减少（NAA，p<0.01；Cr和Cho，p<0.05），且小脑半球内代谢物有减少趋势。基底节未检测到异常。
A-T的质子磁共振波谱特征与后颅窝萎缩的形态学神经影像学表现密切相关。尽管提示锥体外系功能障碍的症状是A-T表型的一部分，但这些症状与基底节代谢物水平改变无关。
