正电子发射断层显像在神经遗传病中的临床应用

Clinical application of positron emission tomography in neurogenetic diseases

神经遗传病种类繁多,具有高度的遗传异质性和临床异质性,诊治困难。亨廷顿病、肌萎缩侧索硬化症和脊髓小脑共济失调是3种致残率较高的神经遗传疾病,因此,分子病理水平的早期、无创、动态监测至关重要。正电子发射断层显像(PET)在揭示疾病的分子发病机制具有显著优势,文章阐述了PET在这3种神经遗传病的诊断、病情评估和疗效监测的主要研究进展,并就其未来发展方向进行讨论。

There are many kinds of neurogenetic diseases,which are difficult to diagnose and treat because of their high genetic and clinical heterogeneity. Huntington’s disease,amyotrophic lateral sclerosis and spinocerebellar ataxia are neurogenetic diseases with high disability rates,so early,noninvasive,and dynamic monitoring of molecular pathological levels is essential. Positron Emission Tomography(PET) has dramatic advantages in revealing the molecular pathogenesis of disease. This article reviews the major advances in the diagnosis,evaluation,and efficacy monitoring of PET in these three neurogenetic diseases,and discuss its future development direction.