Institute for Neuroradiology, St. Josef Hospital, Ruhr-University-Bochum, Gudrunstr. 56, 44791, Bochum, Germany.
Department of Neurology, St. Josef Hospital, Ruhr-University Bochum, Gudrunstr. 56, 44791, Bochum, Germany.
J Neurol. 2024 Aug;271(8):5525-5540. doi: 10.1007/s00415-024-12511-0. Epub 2024 Jun 19.
Myotonic dystrophy is a multisystem disorder characterized by widespread organic involvement including central nervous system symptoms. Although myotonic dystrophy disease types 1 (DM1) and 2 (DM2) cover a similar spectrum of symptoms, more pronounced clinical and brain alterations have been described in DM1. Here, we investigated brain volumetric and white matter alterations in both disease types and compared to healthy controls (HC).
MRI scans were obtained from 29 DM1, 27 DM2, and 56 HC. We assessed macro- and microstructural brain changes by surface-based analysis of cortical thickness of anatomical images and tract-based spatial statistics of fractional anisotropy (FA) obtained by diffusion-weighted imaging, respectively. Global MRI measures were related to clinical and neuropsychological scores to evaluate their clinical relevance.
Cortical thickness was reduced in both patient groups compared to HC, showing similar patterns of regional distribution in DM1 and DM2 (occipital, temporal, frontal) but more pronounced cortical thinning for DM1. Similarly, FA values showed a widespread decrease in DM1 and DM2 compared to HC. Interestingly, FA was significantly lower in DM1 compared to DM2 within most parts of the brain.
Comparisons between DM1 and DM2 indicate a more pronounced cortical thinning of grey matter and a widespread reduction in microstructural integrity of white matter in DM1. Future studies are required to unravel the underlying and separating mechanisms for the disease courses of the two types and their neuropsychological symptoms.
肌强直性营养不良是一种多系统疾病，其特征是广泛的有机参与，包括中枢神经系统症状。虽然肌强直性营养不良 1 型（DM1）和 2 型（DM2）涵盖了相似的症状谱，但在 DM1 中已经描述了更明显的临床和大脑改变。在这里，我们研究了两种疾病类型的脑容积和白质改变，并与健康对照组（HC）进行了比较。
从 29 名 DM1 患者、27 名 DM2 患者和 56 名 HC 中获得 MRI 扫描。我们通过对解剖图像的皮质厚度进行基于表面的分析，以及通过弥散加权成像获得的各向异性分数（FA）的基于束的空间统计，分别评估了宏观和微观结构的脑变化。对全球 MRI 测量值与临床和神经心理学评分相关联，以评估其临床相关性。
与 HC 相比，两组患者的皮质厚度均降低，在 DM1 和 DM2 中表现出相似的区域分布模式（枕叶、颞叶、额叶），但 DM1 的皮质变薄更为明显。同样，与 HC 相比，DM1 和 DM2 的 FA 值均广泛降低。有趣的是，在大脑的大多数部位，FA 值在 DM1 中明显低于 DM2。
DM1 和 DM2 之间的比较表明，DM1 中的灰质皮质变薄更明显，白质的微观结构完整性广泛降低。需要进一步的研究来揭示两种类型的疾病过程及其神经心理学症状的潜在和分离机制。
