Psychiatry Neuroimaging Laboratory, Brigham and Women's Hospital and Harvard Medical School, 1249 Boylston St, Boston, Massachusetts, 02215, USA.
Neurol Sci. 2013 Aug;34(8):1459-62. doi: 10.1007/s10072-013-1402-0. Epub 2013 May 3.
Friedreich ataxia (FRDA) is a common inherited ataxia, caused by an expanded GAA repeat sequence in the Frataxin (FXN) gene. The proprioceptive system, which enters the cerebellum through the cerebellar peduncles, is a primary focus of pathology. In this study, we investigate the relationship of clinical and genetic data with diffusion-tensor imaging (DTI) indices reflecting white matter integrity of the cerebellar peduncles. Nine FRDA patients underwent DTI. After between-subject registration using tract-based spatial statistics, a white matter atlas was used for computing average values of DTI indices in the regions of interest. These were the inferior, middle and superior cerebellar peduncles (ICP, MCP, SCP). For Bonferroni correction, significance threshold was set to p < 0.0056. We found that radial diffusivity (D(⊥)) within the ICP significantly correlated with scores on the Friedreich Ataxia Rating Scale (FARS, Spearman's ρ = 0.883, p = 0.0016, all two-sided) and, at trend level, with number of trinucleotide repeats (ρ = 0.812, p = 0.008). D(⊥) in the SCP correlated with scores on the Scale for the Assessment and Rating of Ataxia (SARA, ρ = 0.867, p = 0.0025). These findings support the role of DTI, and especially D(⊥), as an informative biomarker in FRDA.
弗里德赖希共济失调（FRDA）是一种常见的遗传性共济失调，由 Frataxin（FXN）基因中的 GAA 重复序列扩展引起。本体感觉系统通过小脑脚进入小脑，是病理学的主要焦点。在这项研究中，我们研究了临床和遗传数据与反映小脑脚白质完整性的扩散张量成像（DTI）指数之间的关系。9 名 FRDA 患者接受了 DTI 检查。在使用基于轨迹的空间统计学进行受试者间配准后，使用白质图谱计算感兴趣区域的 DTI 指数的平均值。这些区域是下、中、上小脑脚（ICP、MCP、SCP）。为了进行 Bonferroni 校正，显著性阈值设置为 p < 0.0056。我们发现 ICP 内的辐射各向异性（D(⊥)）与 Friedreich 共济失调评定量表（FARS）评分显著相关（Spearman's ρ = 0.883，p = 0.0016，均为双侧），并且在趋势水平上与三核苷酸重复数相关（ρ = 0.812，p = 0.008）。SCP 中的 D(⊥)与共济失调评估和评定量表（SARA）评分相关（ρ = 0.867，p = 0.0025）。这些发现支持 DTI，尤其是 D(⊥)，作为 FRDA 的一种信息丰富的生物标志物的作用。
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