Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia.
Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia.
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丘脑皮质连接性与肌张力障碍的表型变异相关。
DOI：
10.1093/cercor/bhu104
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Eidelberg,David
中科院分区：
文献类型：
--
作者：
Vo,An;Sako,Wataru;Niethammer,Martin;Carbon,Maren;Bressman,SusanB;Uluğ,AzizM;Eidelberg,David
肌张力障碍是一种以异常不自主运动为特征的脑疾病，但没有明确的神经病理学变化。该病常以常染色体显性遗传，不完全显性。患有肌张力障碍的个体，无论是遗传性的还是散发性的，都表现出显著的表型变异性，在躯体分布和临床表现的严重程度上存在显著差异。在目前的研究中，我们使用磁共振扩散张量成像来识别与特定肢体表现相关的微结构变化。功能磁共振成像被用来定位特定的肢体区域内的躯体感觉皮层。当评估与临床受累肢体相关的亚罗兰白色物质区域时，微结构完整性得以保留，但与临床未受累（无症状）身体区域相关的区域减少。临床表现最大的受试者与相对完整的微观结构在躯体相关的白色物质区域。纤维束造影显示显着的表型相关的差异，在可视化的丘脑皮质束，而皮质纹状体和皮质脊髓通路组间没有差异。小脑丘脑微结构异常也见于肌张力障碍受试者，但这些变化与基因型，而不是与表型变异。结果表明，丘脑皮质运动系统是肌张力障碍表型的主要决定因素。这一通路可能是难治性肢体肌张力障碍患者的一个新的治疗靶点。
Dystonia is a brain disorder characterized by abnormal involuntary movements without defining neuropathological changes. The disease is often inherited as an autosomal-dominant trait with incomplete penetrance. Individuals with dystonia, whether inherited or sporadic, exhibit striking phenotypic variability, with marked differences in the somatic distribution and severity of clinical manifestations. In the current study, we used magnetic resonance diffusion tensor imaging to identify microstructural changes associated with specific limb manifestations. Functional MRI was used to localize specific limb regions within the somatosensory cortex. Microstructural integrity was preserved when assessed in subrolandic white matter regions somatotopically related to the clinically involved limbs, but was reduced in regions linked to clinically uninvolved (asymptomatic) body areas. Clinical manifestations were greatest in subjects with relatively intact microstructure in somatotopically relevant white matter regions. Tractography revealed significant phenotype-related differences in the visualized thalamocortical tracts while corticostriatal and corticospinal pathways did not differ between groups. Cerebellothalamic microstructural abnormalities were also seen in the dystonia subjects, but these changes were associated with genotype, rather than with phenotypic variation. The findings suggest that the thalamocortical motor system is a major determinant of dystonia phenotype. This pathway may represent a novel therapeutic target for individuals with refractory limb dystonia.
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影响因子：
8.6
作者：
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作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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