Neurological Clinic, University of Ulm, Germany.
Neurology. 2010 Apr 6;74(14):1108-17. doi: 10.1212/WNL.0b013e3181d8c35f. Epub 2010 Mar 10.
Myotonic dystrophy type 1 and 2 (DM1/DM2) are multisystemic diseases with common cognitive deficits beside the cardinal muscular symptoms. We performed a comprehensive analysis of cerebral abnormalities to compare the neuropsychological defects with findings in different imaging methods in the same cohort of patients.
Neuropsychological investigations, structural cerebral MRI including brain parenchymal fraction (BPF) and voxel-based morphometry (VBM), and (18)F-deoxy-glucose PET (FDG-PET) were performed in patients (20 DM1 and 9 DM2) and matched healthy controls, and analyzed using statistical parametric mapping (SPM2).
DM1 and DM2 patients showed typical neuropsychological deficits with a pronounced impairment of nonverbal episodic memory. Both patient groups showed a reduction of the global gray matter (measured by BPF), which could be localized to the frontal and parietal lobes by VBM. Interestingly, VBM revealed a bilateral hippocampal volume reduction that was correlated specifically to both a clinical score and episodic memory deficits. VBM also revealed a pronounced change of thalamic gray matter. White matter lesions were found in >50% of patients and their extent was correlated to psychomotor speed. FDG-PET revealed a frontotemporal hypometabolism, independent of the decrease in cortical gray matter. All abnormalities were similar in both patient groups but more pronounced for DM1.
Our results suggest that 1) some of the characteristic cognitive deficits of these patients are linked to specific structural cerebral changes, 2) decreases in gray matter and metabolism are independent processes, and 3) the widespread brain abnormalities are more pronounced in DM1.
肌强直性营养不良 1 型和 2 型（DM1/DM2）是一种多系统疾病，除了主要的肌肉症状外，还存在常见的认知缺陷。我们对脑异常进行了全面分析，旨在比较同一批患者的神经心理学缺陷与不同成像方法的发现。
对 20 名 DM1 患者和 9 名 DM2 患者及匹配的健康对照者进行神经心理学检查、包括脑实质分数（BPF）和基于体素的形态计量学（VBM）的结构性脑 MRI 以及（18）F-脱氧葡萄糖 PET（FDG-PET）检查，并采用统计参数映射（SPM2）进行分析。
DM1 和 DM2 患者表现出典型的神经心理学缺陷，非言语性情景记忆明显受损。两组患者的全脑灰质（通过 BPF 测量）均减少，VBM 可将其定位在前额和顶叶。有趣的是，VBM 显示双侧海马体积减小，这与临床评分和情景记忆缺陷有特异性相关。VBM 还显示出明显的丘脑灰质变化。>50%的患者存在白质病变，其程度与运动速度相关。FDG-PET 显示额颞叶代谢减少，与皮质灰质减少无关。所有异常在两组患者中均相似，但在 DM1 中更为明显。
我们的结果表明：1）这些患者的一些特征性认知缺陷与特定的脑结构变化有关；2）灰质和代谢的减少是独立的过程；3）广泛的脑异常在 DM1 中更为明显。
