Wozniak Jeffrey R, Mueller Bryon A, Lim Kelvin O, Hemmy Laura S, Day John W
Department of Psychiatry, University of Minnesota-Twin Cities, F256/2B West, 2450 Riverside Ave., Minneapolis, MN 55454, United States.
Department of Psychiatry, University of Minnesota-Twin Cities, F256/2B West, 2450 Riverside Ave., Minneapolis, MN 55454, United States.
J Neurol Sci. 2014 Jun 15;341(1-2):73-8. doi: 10.1016/j.jns.2014.04.005. Epub 2014 Apr 13.
Cerebral involvement in Myotonic Dystrophy Type 1 (DM1) is well-established but not well characterized. This study applied new Diffusion Tensor Imaging (DTI) tractography to characterize white matter disturbance in adults with DM1. Forty-five participants with DM1 and 44 control participants had MRIs on a Siemens 3T TIM Trio scanner. Data were processed with TRActs Constrained by UnderLying Anatomy (TRACULA) and 7 tracts were evaluated. Bilateral disturbances in white matter integrity were seen in all tracts in participants with DM1 compared to controls. There were no right-left hemisphere differences. The resulting DTI metrics were correlated with cognitive functioning, particularly working memory and processing speed. Motor speed was not significantly correlated with white matter microstructural integrity and, thus, was not the core explanation for the working memory and processing speed findings. White matter integrity was correlated with important clinical variables including the muscular impairment rating scale (MIRS). CTG repeat length was moderately associated with white matter status in corticospinal tract and cingulum. Sleepiness (Epworth Sleepiness Scale) was moderately associated with white matter status in the superior longitudinal fasciculus and cingulum. Overall, the results add to an emerging literature showing widespread white matter disturbances in both early-onset and adult-onset DM1. Results suggest that further investigation of white matter pathology is warranted in DM1 and that non-invasive measures such as DTI have a potentially important clinical value in characterizing the status of individuals with DM1.
1型强直性肌营养不良（DM1）的脑受累情况已得到充分证实，但特征尚不明确。本研究应用新的扩散张量成像（DTI）纤维束成像技术来描述成年DM1患者的白质紊乱情况。45名DM1患者和44名对照参与者在西门子3T TIM Trio扫描仪上进行了磁共振成像（MRI）检查。数据采用基于潜在解剖结构约束的纤维束成像（TRACULA）进行处理，并对7条纤维束进行了评估。与对照组相比，DM1患者的所有纤维束均出现双侧白质完整性紊乱。左右半球之间没有差异。所得的DTI指标与认知功能相关，尤其是工作记忆和处理速度。运动速度与白质微观结构完整性无显著相关性，因此不是工作记忆和处理速度结果的核心解释因素。白质完整性与包括肌肉损伤评定量表（MIRS）在内的重要临床变量相关。CTG重复长度与皮质脊髓束和扣带束中的白质状态中度相关。嗜睡（爱泼华嗜睡量表）与上纵束和扣带束中的白质状态中度相关。总体而言，这些结果进一步丰富了相关文献，表明早发型和成年型DM1均存在广泛的白质紊乱。结果表明，有必要对DM1的白质病理进行进一步研究，并且DTI等非侵入性测量方法在描述DM1患者的状态方面具有潜在的重要临床价值。
