Department of Psychiatry, University of Minnesota, Minneapolis, MN, USA.
Neuromuscul Disord. 2012 Jun;22(6):483-91. doi: 10.1016/j.nmd.2012.01.003. Epub 2012 Jan 30.
Pathophysiological mechanisms underlying the clinically devastating CNS features of myotonic dystrophy (DM) remain more enigmatic and controversial than do the muscle abnormalities of this common form of muscular dystrophy. To better define CNS and cranial muscle changes in DM, we used quantitative volumetric and diffusion tensor MRI methods to measure cerebral and masticatory muscle differences between controls (n=5) and adults with either congenital (n=5) or adult onset (n=5) myotonic dystrophy type 1 and myotonic dystrophy type 2 (n=5). Muscle volumes were diminished in DM1 and strongly correlated with reduced white matter integrity and gray matter volume. Moreover, correlation of reduced fractional anisotropy (white matter integrity) and gray matter volume in both DM1 and DM2 suggests that these abnormalities may share a common underlying pathophysiological mechanism. Further quantitative temporal and spatial characterization of these features will help delineate developmental and progressive neurological components of DM, and help determine the causative molecular and cellular mechanisms.
导致肌强直性营养不良（DM）中枢神经系统特征具有临床破坏性的病理生理机制比这种常见形式的肌肉营养不良的肌肉异常更为神秘和有争议。为了更好地定义 DM 的中枢神经系统和颅面肌肉变化，我们使用定量容积和弥散张量 MRI 方法来测量对照组（n=5）和 1 型和 2 型肌强直性营养不良（n=5）的先天性（n=5）或成年发病（n=5）患者之间的大脑和咀嚼肌差异。DM1 中的肌肉体积减少，与白质完整性和灰质体积减少呈强烈相关。此外，DM1 和 DM2 中减少的各向异性分数（白质完整性）和灰质体积之间的相关性表明，这些异常可能具有共同的潜在病理生理机制。进一步对这些特征进行定量的时间和空间特征描述，将有助于描绘 DM 的发育和进行性神经成分，并有助于确定致病的分子和细胞机制。
