Brain Involvement in Myotonic Dystrophy Type 1: A Morphometric and Diffusion Tensor Imaging Study with Neuropsychological Correlation
Brain Involvement in Myotonic Dystrophy Type 1: A Morphometric and Diffusion Tensor Imaging Study with Neuropsychological Correlation
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DOI：
10.1093/arclin/acx008
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发表时间：
2017-06-01
影响因子：
2.6
通讯作者：
Gomez, M.
中科院分区：
文献类型：
--
作者：
Cabada, T.;Iridoy, M.;Gomez, M.
目的：强直性肌营养不良 1 型 (DM1) 是成人中最常见的遗传性神经肌肉疾病，是一种遗传性多系统疾病，其脑部受累已明确，但特征尚不明确。本研究的目的是评估 DM1 患者白质和灰质异常的存在情况，并探讨其与神经认知功能障碍的关系。方法：该研究共纳入 42 名 DM1 患者和 42 名健康对照。进行了临床、认知和磁共振成像评估，包括使用结构和扩散张量成像（DTI）技术。对白质病变 (WML) 负荷、体积分析和扩散性变化进行评估，并将其与临床和神经心理学测试结果相关联。结果：DM1 患者中 WML 的发生率显着更高 (p < .001)，并且仅在患者组中发现前颞叶病变。发现整体和区域皮质体积减少和胼胝体萎缩。在保留内囊的情况下，观察到弥漫性白质 DTI 异常，包括分数各向异性、平均扩散率、轴向扩散率和径向扩散率。皮质下结构显示体积损失和中值扩散率增加。神经心理学评估显示多种认知功能显着受损，但只有视觉空间受损与白质异常和皮质萎缩相关。白天嗜睡与 WML、腹侧间脑和苍白球体积损失有关。结论：DM1 广泛累及白质和灰质，包括皮质和皮质下结构。这些结构异常与这些患者的进行性神经心理功能障碍有关
Objective: Myotonic dystrophy type 1 (DM1), the most prevalent inherited neuromuscular disease in adults, is a genetic multisystem disorder with a well-established but not well-characterized cerebral involvement. The aim of this study was to evaluate the presence of white matter and gray matter abnormalities in DM1 patients and to investigate their relationship with neurocognitive dysfunction.Methods: A total of 42 DM1 patients and 42 healthy controls were included in the study. Clinical, cognitive, and magnetic resonance imaging evaluations, including the use of structural and diffusion tensor imaging (DTI) techniques, were performed. White matter lesion (WML) load, volumetric analysis, and diffusivity changes were assessed and correlated with clinical and neuropsychological test findings.Results: WMLs were significantly more frequent in DM1 patients (p < .001), and anterior temporal lobe lesions were only found in the patient group. Global and regional cortical volume loss and corpus callosum atrophy were found. Diffuse white matter DTI abnormalities, including fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity were observed with sparing of the internal capsule. Subcortical structures showed volume loss and increased median diffusivity. Neuropsychological evaluation showed significant impairment in several cognitive functions, but only visuospatial impairment was correlated with white matter abnormalities and cortical atrophy. Daytime sleepiness was associated with WML and ventral diencephalon and pallidum volume loss.Conclusion: DM1 produces a widespread involvement of white matter and gray matter, including cortical and subcortical structures. These structural abnormalities are involved in the progressive neuropsychological functional impairment in these patients