Superior Cerebellar Peduncle Atrophy in Friedreich's Ataxia Correlates with Disease Symptoms
Superior Cerebellar Peduncle Atrophy in Friedreich's Ataxia Correlates with Disease Symptoms
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DOI：
10.1007/s12311-010-0232-3
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发表时间：
2011-03-01
期刊：
影响因子：
3.5
通讯作者：
Egan, Gary F.
中科院分区：
文献类型：
--
作者：
Akhlaghi, Hamed;Corben, Louise;Egan, Gary F.
弗里德赖希共济失调（Friedreich's ataxia，FRDA）是最常见的早发性遗传性共济失调，临床表现包括渐进性持续性小脑感觉性共济失调、外周感觉丧失、下肢腱反射丧失和肥厚型心肌病。尽管在FRDA的几项磁共振成像（MRI）研究中报告了上级小脑脚（SCP）萎缩，但尚未研究SCP变化与FRDA遗传和临床特征的关系。我们在12名FRDA右利手患者（FXN内含子1中GAA扩增纯合子）和13名年龄匹配的健康对照者中进行了T1加权MRI扫描。FRDA患者右（左）SCP的校正横截面积（R，20 +/- 7.9 mm（2）; L，25 +/- 5.6 mm（2））显著小于对照组（R，68 +/- 16 mm（2）; L，78 +/- 17 mm（2））（p < 0.001）。FRDA患者SCP体积与共济失调评分（r = -0.553）、病程（r = -0.541）呈负相关，与发病年龄（r = 0.548）呈正相关（p < 0.05）。这些结果表明，SCP的结构MRI成像可以提供FRDA疾病严重程度的替代标记，并支持结构MRI作为神经退行性疾病和治疗评价中的生物标志物的潜在作用。
Friedreich's ataxia (FRDA) is the most common early onset inherited ataxia with clinical manifestations, including gradual progression of unremitting cerebellar-sensory ataxia, peripheral sensory loss, loss of lower limb tendon reflexes and hypertrophic cardiomyopathy. Although atrophy of the superior cerebellar peduncle (SCP) has been reported in several magnetic resonance imaging (MRI) studies of FRDA, the relationship of SCP changes to genetic and clinical features of FRDA has not been investigated. We acquired T1-weighted MRI scans in 12 right-handed individuals with FRDA, homozygous for a GAA expansion in intron 1 of FXN, as well as 13 healthy age-matched controls. The corrected cross-sectional areas of the right (left) SCP in the individuals with FRDA (R, 20 +/- 7.9 mm(2); L, 25 +/- 5.6 mm(2)) were significantly smaller than for controls (R, 68 +/- 16 mm(2); L, 78 +/- 17 mm(2)) (p < 0.001). The SCP volumes of individuals with FRDA were negatively correlated with Friedreich's ataxia rating scale score (r = -0.553) and disease duration (r = -0.541), and positively correlated with the age of onset (r = 0.548) (p < 0.05). These findings suggest that structural MR imaging of the SCP can provide a surrogate marker of disease severity in FRDA and support the potential role of structural MRI as a biomarker in the evaluation of neurodegenerative diseases and therapies.