Martins Carlos Roberto, Martinez Alberto Rolim Muro, de Rezende Thiago Junqueira Ribeiro, Branco Lucas Melo Teixeira, Pedroso José Luiz, Barsottini Orlando G P, Lopes-Cendes Iscia, França Marcondes C
Department of Neurology and Neuroimaging Laboratory, School of Medical Sciences, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.
Department of Neurology, Ataxia Unit, Federal University of São Paulo-UNIFESP, São Paulo, Brazil.
Cerebellum. 2017 Aug;16(4):792-796. doi: 10.1007/s12311-017-0854-9.
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion, characterized by progressive cerebellar ataxia and pyramidal signs. Non-motor and extracerebellar symptoms may occur. MRI-based studies in SCA1 focused in the cerebellum and connections, but there are no data about cord damage in the disease and its clinical relevance. To evaluate in vivo spinal cord damage in SCA1, a group of 31 patients with SCA1 and 31 age- and gender-matched healthy controls underwent MRI on a 3T scanner. We used T1-weighted 3D images to estimate the cervical spinal cord area (CA) and eccentricity (CE) at three C2/C3 levels based on a semi-automatic image segmentation protocol. The scale for assessment and rating of ataxia (SARA) was used to quantify disease severity. The groups were significantly different regarding CA (47.26 ± 7.4 vs. 68.8 ± 5.7 mm2, p < 0.001) and CE values (0.803 ± 0.044 vs. 0.774 ± 0.043, p < 0.05). Furthermore, in the patient group, CA presented significant correlation with SARA scores (R = -0.633, p < 0.001) and CAGn expansion (R = -0.658, p < 0.001). CE was not associated with SARA scores (p = 0.431). In the multiple variable regression, CA was strongly associated with disease duration (coefficient -0.360, p < 0.05) and CAGn expansion (coefficient -1.124, p < 0.001). SCA1 is characterized by cervical cord atrophy and anteroposterior flattening. Morphometric analyses of the spinal cord MRI might be a useful biomarker in the disease.
1型脊髓小脑共济失调（SCA1）是一种由CAG重复序列扩增引起的常染色体显性疾病，其特征为进行性小脑共济失调和锥体束征。可能会出现非运动性和小脑外症状。基于MRI的SCA1研究主要集中在小脑及其连接方面，但尚无关于该疾病脊髓损伤及其临床相关性的数据。为了评估SCA1患者的体内脊髓损伤情况，一组31例SCA1患者和31例年龄及性别匹配的健康对照者在3T扫描仪上接受了MRI检查。我们使用T1加权3D图像，基于半自动图像分割协议，在三个C2/C3水平估计颈髓面积（CA）和偏心率（CE）。采用共济失调评估和评分量表（SARA）对疾病严重程度进行量化。两组在CA（47.26±7.4 vs. 68.8±5.7mm²，p<0.001）和CE值（0.803±0.044 vs. 0.774±0.043，p<0.05）方面存在显著差异。此外，在患者组中，CA与SARA评分（R=-0.633，p<0.001）和CAGn扩增（R=-0.658，p<0.001）呈显著相关。CE与SARA评分无关（p=0.431）。在多变量回归分析中，CA与病程（系数-0.360，p<0.05）和CAGn扩增（系数-1.124，p<0.001）密切相关。SCA1的特征是颈髓萎缩和前后径变扁。脊髓MRI的形态学分析可能是该疾病的一种有用生物标志物。
