Yoo Woo Kyoung, Park Yoon Ghil, Choi Young Chul, Kim Sun Mi
Department of Physical Medicine and Rehabilitation and Hallym Institute of Translational Genomics and Bioinformatics, Hallym Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea.
Department of Rehabilitation Medicine and Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Yonsei Med J. 2017 Jul;58(4):807-815. doi: 10.3349/ymj.2017.58.4.807.
Myotonic dystrophy type 1 (DM1) is characterized by progressive muscular weakness with symptoms caused by involvement of the brain. The aim of this study was to delineate global changes in cortical thickness and white matter integrity in patients with DM1, compared to age-matched healthy controls, and in brain areas highly correlated with CTG repeat size.
Cortical thickness and white matter integrity were compared in nine adult DM1 patients and age matched healthy controls using T1-weighted and diffusion tensor imaging. The patients' intelligence quotient (IQ) and CTG repeat size were measured in each individual.
Cortical thickness was significantly reduced in the frontal, temporal, and occipital cortices, while tract-based spatial statistics showed decreased diffusion metrics in widespread areas, including the bilateral orbitofrontal, anterior frontal, insular, external capsule, and occipital cortices in DM1 patients, compared to controls. Additionally, thickness was negatively correlated with the number of CTG repeats in those areas. White matter integrity was negatively correlated with CTG repeats in the left entorhinal, anterior corona radiata, orbitofrontal, and lateral occipital areas. No statistically significant correlation was found between IQ scores and the size of CTG repeats.
Our results suggest that DM1 is associated with wide distributions of network changes in both gray and white matter. Some of areas related to cognition showed significant correlations with CTG repeats.
1型强直性肌营养不良症（DM1）的特征是进行性肌肉无力，并伴有因大脑受累而出现的症状。本研究的目的是描绘DM1患者与年龄匹配的健康对照相比，以及在与CTG重复序列大小高度相关的脑区中，皮质厚度和白质完整性的整体变化。
使用T1加权成像和扩散张量成像，比较了9名成年DM1患者和年龄匹配的健康对照的皮质厚度和白质完整性。测量了每个个体的智商（IQ）和CTG重复序列大小。
与对照组相比，DM1患者的额叶、颞叶和枕叶皮质厚度显著降低，而基于体素的空间统计学显示，包括双侧眶额、前额、岛叶、外囊和枕叶皮质在内的广泛区域的扩散指标降低。此外，这些区域的厚度与CTG重复序列的数量呈负相关。白质完整性与左侧内嗅、前放射冠、眶额和枕外侧区域的CTG重复序列呈负相关。未发现智商分数与CTG重复序列大小之间存在统计学显著相关性。
我们的结果表明，DM1与灰质和白质网络变化的广泛分布有关。一些与认知相关的区域与CTG重复序列显示出显著相关性。
