Current Progress in CNS Imaging of Myotonic Dystrophy.
Current Progress in CNS Imaging of Myotonic Dystrophy.
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DOI：
10.3389/fneur.2018.00646
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发表时间：
2018
影响因子：
3.4
通讯作者：
Kornblum C
中科院分区：
文献类型：
--
作者：
Minnerop M;Gliem C;Kornblum C
肌强直性营养不良症的神经成像为深入了解这些多系统疾病中非常普遍的脑受累提供了重要的贡献。特别是在1型肌强直性营养不良中，常规MRI首先显示高强度的白质病变，主要局限于颞叶前部。脑萎缩和脑室增大是早在30年前就被描述过的另外的早期发现。从那时起，更先进和复杂的成像方法被应用于1型和2型肌强直性营养不良。在PET研究中，实际表现正常的白质受累和广泛的皮层影响是识别体内弥漫性而不仅仅是局灶性脑病理的关键结果。后来，在两种形式的疾病中都发现了灰质和白质的结构异常，尽管在1型肌强直性营养不良中更为突出。在1型中，观察到灰质和白质持续广泛的皮层和皮层下受累，影响所有脑叶、脑干和小脑。光谱学研究为这两种类型的神经元和神经胶质损伤提供了额外的证据。关于中枢神经系统受累的起源和时空演变及其与临床症状的相关性的核心问题在30年前就已经提出，但至今仍未得到回答。神经影像学与临床参数之间的相关性分析结果是多种多样的，除了少数例外，在研究中不能很好地重复。这可能与大多数报道的研究只包括少量受试者，有时甚至没有区分1型肌强直性营养不良症和2型肌强直性营养不良症有关。但这种异质性也可能支持当前的观点，即临床损伤不仅仅与特定的和区域限制的结构或功能脑改变有关。似乎更有说服力的是，在这些疾病中，紊乱的网络建立了临床症状的功能和结构基础，就像在其他神经精神疾病中提出的那样。连续地，结构和功能网络分析可以提供关于脑病理和临床症状之间联系的额外信息。到目前为止，仅发表了横断面神经影像学研究。为了分析大脑情感的时间演变，迫切需要纵向研究，系统的自然历史数据将有助于确定治疗研究的潜在生物标志物。
Neuroimaging in myotonic dystrophies provided a major contribution to the insight into brain involvement which is highly prevalent in these multisystemic disorders. Particular in Myotonic Dystrophy Type 1, conventional MRI first revealed hyperintense white matter lesions, predominantly localized in the anterior temporal lobe. Brain atrophy and ventricle enlargement were additional early findings already described almost 30 years ago. Since then, more advanced and sophisticated imaging methods have been applied in Myotonic Dystrophy Types 1 and 2. Involvement of actually normal appearing white matter and widespread cortical affection in PET studies were key results toward the recognition of diffuse and not only focally localized brain pathology in vivo. Later, structural abnormalities of both, gray and white matter, have been found in both forms of the disorder, albeit more prominent in myotonic dystrophy type 1. In Type 1, a consistent widespread cortical and subcortical involvement of gray and white matter affecting all lobes, brainstem and cerebellum was observed. Spectroscopy studies gave additional evidence of neuronal and glial damage in both types. Central questions regarding the origin and spatiotemporal evolution of the CNS involvement and its relevance for clinical symptoms had already been raised 30 years ago, however are still not answered. Results of correlation analyses between neuroimaging and clinical parameters are diverse and with few exceptions not well reproducible across studies. It may be related to the fact that most of the reported studies included only small numbers of subjects, sometimes even not separating Myotonic Dystrophy Type 1 from Type 2. But this heterogeneity may also support the current point of view that the clinical impairments are not simply linked to specific and regionally circumscribed structural or functional brain alterations. It seems more convincing that disturbed networks build the functional and structural substrate of clinical symptoms in these disorders as it is proposed in other neuropsychiatric diseases. Consecutively, structural and functional network analyses may provide additional information regarding the link between brain pathology and clinical symptoms. Up to now, only cross-sectional neuroimaging studies have been published. To analyze the temporal evolution of brain affection, longitudinal studies are urgently needed, and systematic natural history data would be useful to identify potential biomarkers for therapeutic studies.
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影响因子：
2.6
作者：
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通讯作者：
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影响因子：
4.4
作者：
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2.8
作者：
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作者：
Antonini, G;Mainero, C;Caramia, F
通讯作者：
Caramia, F
DOI：
10.1016/j.nicl.2016.06.011
发表时间：
2016
期刊：
NeuroImage. Clinical
影响因子：
--
作者：
Baldanzi S;Cecchi P;Fabbri S;Pesaresi I;Simoncini C;Angelini C;Bonuccelli U;Cosottini M;Siciliano G
通讯作者：
Siciliano G