Mascalchi M, Tosetti M, Plasmati R, Bianchi M C, Tessa C, Salvi F, Frontali M, Valzania F, Bartolozzi C, Tassinari C A
Cattedra di Radiologia, Università di Pisa, Italy.
Ann Neurol. 1998 Feb;43(2):244-52. doi: 10.1002/ana.410430215.
Linkage and DNA analysis, magnetic resonance (MR) imaging, and single-voxel proton MR spectroscopy were obtained in 10 members of an Italian kindred with spinocerebellar ataxia type 1 (SCA1). The size of the basis pontis, cerebellar hemispheres, middle cerebellar peduncles, and medulla oblongata were decreased in 4 members carrying the SCA1 gene, compared with 6 unaffected subjects. Diffuse signal changes in the pons and cerebellum were observed only in the carrier with the longest disease duration and greatest disability. The N-acetylaspartate/creatine ratio and the choline/creatine ratio in the basis pontis were markedly decreased in 2 symptomatic SCA1 carriers and moderately decreased in 2 asymptomatic SCA1 carriers, compared with the unaffected family members and a control group of 10 healthy volunteers. Minor decreases in the N-acetylaspartate/creatine ratio and the normal choline/creatine ratio were observed in the cerebellar hemisphere of the SCA1 carriers. Reduction of the N-acetylaspartate/creatine ratio, demonstrated by MR spectroscopy in the pons, is likely to reflect a loss of neuronal viability and might represent a biochemical marker of SCA1 more sensitive than brainstem and cerebellum atrophy and signal changes shown by MR imaging.
对一个患有1型脊髓小脑共济失调（SCA1）的意大利家族的10名成员进行了连锁和DNA分析、磁共振（MR）成像及单体素质子MR波谱分析。与6名未受影响的受试者相比，4名携带SCA1基因的成员脑桥基底部、小脑半球、小脑中脚和延髓的体积减小。仅在病程最长且残疾程度最重的携带者中观察到脑桥和小脑的弥漫性信号改变。与未受影响的家庭成员及10名健康志愿者组成的对照组相比，2名有症状的SCA1携带者脑桥基底部的N-乙酰天门冬氨酸/肌酸比值和胆碱/肌酸比值显著降低，2名无症状的SCA1携带者则中度降低。在SCA1携带者的小脑半球中观察到N-乙酰天门冬氨酸/肌酸比值略有降低，胆碱/肌酸比值正常。MR波谱显示脑桥中N-乙酰天门冬氨酸/肌酸比值降低，这可能反映神经元活力丧失，并且可能是比脑干和小脑萎缩以及MR成像显示的信号改变更敏感的SCA1生化标志物。
