METHODS: A prospective 1-year clinical and MRI assessment was conducted in 27 presymptomatic and 23 clinically manifest mutation carriers for SCA1 and SCA2 expansions. Cross-sectional and longitudinal changes of thalamic nuclei volume were investigated in SCA1 and SCA2 individuals and in healthy participants (n = 20).
RESULTS: Both SCA1 and SCA2 patients had significant atrophy in the majority of thalamic nuclei, except for the posterior and partly medial nuclei. The 1-year longitudinal evaluation showed a specific pattern of atrophy in ventral and posterior thalamus, detectable even at the presymptomatic stage of the disease.
CONCLUSIONS: For the first time in vivo, our exploratory study has shown that different thalamic nuclei are involved at different stages of the degenerative process in both SCA1 and SCA2. It is therefore possible that thalamic alterations might significantly contribute to the progression of the disease years before overt clinical manifestations occur.
方法:对27个症状前和23个临床上明显的SCA1和SCA2扩张突变携带者进行了为期1年的前瞻性临床和MRI评估。在SCA1和SCA2个体以及健康参与者(n=20)中研究了丘脑核体积的横截面和纵向变化。
结果:SCA1和SCA2患者的大部分丘脑核均有明显的萎缩,除了后部和部分内侧核。1年纵向评估显示腹侧和后丘脑萎缩的特定模式,即使在疾病的症状前阶段也可以检测到。
结论:首次在体内,我们的探索性研究表明,SCA1和SCA2的退化过程的不同阶段涉及不同的丘脑核。因此,在出现明显的临床表现之前,丘脑的改变可能会对疾病的进展做出重大贡献。