Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration.
Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration.
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1 型脊髓小脑共济失调中小脑网络内在组织的丧失：与疾病严重程度和持续时间相关。
DOI：
10.1007/s12311-010-0214-5
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发表时间：
2011-06
期刊：
影响因子：
3.5
通讯作者：
Gomez, Christopher M.
中科院分区：
文献类型：
--
作者：
Solodkin, Ana;Peri, Eitan;Chen, E. Elinor;Ben-Jacob, Eshel;Gomez, Christopher M.
脊髓小脑共济失调是一组遗传异质性的小脑退行性疾病，其特征是进行性步态不稳、手不协调和构音障碍。SCA 1是一种显性遗传的SCA，其突变机制由一个扩展的三核苷酸CAG重复序列组成。在SCA1中，浦肯野细胞丢失，齿状核、橄榄核和脑桥核中的神经元丢失。在本研究中，我们试图应用内在功能连接分析结合扩散张量成像来定义SCA1小脑连接的状态。我们的研究结果在小脑外侧和丘脑的内在功能连接显示了渐进的组织变化SCA1指出的相关系数的绝对值的渐进增加。在小脑外侧，在对照组中被视为旁束带的功能簇的解剖组织丢失，在SCA1中变为斑片状外观。最后，只有分数各向异性的上级脚和丘脑的功能组织的变化表现出线性依赖于疾病的持续时间和严重程度。目前的试点工作代表了描述SCA1疾病进展的连接性生物标志物的初步努力。内在功能分析和弥散张量成像检测到的功能变化表明，疾病进展可以作为一个断开综合征进行分析。
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of cerebellar degenerative disorders, characterized by progressive gait unsteadiness, hand incoordination, and dysarthria. The mutational mechanism in SCA1, a dominantly inherited form of SCA, consists of an expanded trinucleotide CAG repeat. In SCA1, there is loss of Purkinje cells, neuronal loss in dentate nucleus, olives, and pontine nuclei. In the present study, we sought to apply intrinsic functional connectivity analysis combined with diffusion tensor imaging to define the state of cerebellar connectivity in SCA1. Our results on the intrinsic functional connectivity in lateral cerebellum and thalamus showed progressive organizational changes in SCA1 noted as a progressive increase in the absolute value of the correlation coefficients. In the lateral cerebellum, the anatomical organization of functional clusters seen as parasagittal bands in controls is lost, changing to a patchy appearance in SCA1. Lastly, only fractional anisotropy in the superior peduncle and changes in functional organization in thalamus showed a linear dependence to duration and severity of disease. The present pilot work represents an initial effort describing connectivity biomarkers of disease progression in SCA1. The functional changes detected with intrinsic functional analysis and diffusion tensor imaging suggest that disease progression can be analyzed as a disconnection syndrome.
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