Can MR imaging diagnose adult-onset Alexander disease?
Can MR imaging diagnose adult-onset Alexander disease?
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DOI：
10.3174/ajnr.a1060
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发表时间：
2008-06-01
影响因子：
3.5
通讯作者：
Savoiardo, M.
中科院分区：
文献类型：
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作者：
Farina, L.;Pareyson, D.;Savoiardo, M.
背景与目的：近年来，神经胶质纤维酸性蛋白基因（GFAP）突变与亚历山大病（AD）有关的发现引起了对成人病例的认识。本研究的目的是证明磁共振成像可以识别成人发病的AD （AOAD）病例，这与婴儿病例有很大不同。材料和方法：在这项回顾性研究中，回顾了11例AOAD患者（7男4女，年龄26-64岁，平均年龄43.6岁）的脑和脊髓磁共振成像研究，除1例遗传确诊外，其余患者均为AOAD。弥散和光谱检查各6例。结果：11例AOAD患者中有11例出现延髓和上颈脊髓的萎缩和信号强度改变，是AOAD的诊断特征。8例患者有轻微至中度幕上脑室周围异常，但3例老年患者无此异常。在这些患者中，也没有造影后增强。除异常白质（WM）外，平均扩散率无明显改变。肌醇（mlns）升高也仅限于心室周围WM异常。结论：了解所描述的MR模式可以有效地选择需要进行GFAP基因遗传调查的患者。这种MR模式甚至导致无症状病例的识别，应被视为AOAD的高度特征。
BACKGROUND AND PURPOSE: In recent years, the discovery that mutations in the glial fibrillary acidic protein gene (GFAP) were responsible for Alexander disease (AD) brought recognition of adult cases. The purpose of this study was to demonstrate that MR imaging allows identification of cases of AD with adult onset (AOAD), which are remarkably different from infantile cases.MATERIALS AND METHODS: In this retrospective study, brain and spinal cord MR imaging studies of 11 patients with AOAD (7 men, 4 women; age range, 26-64 years; mean age, 43.6 years), all but 1 genetically confirmed, were reviewed. Diffusion and spectroscopic investigations were available in 6 patients each.RESULTS: Atrophy and changes in signal intensity in the medulla oblongata and upper cervical spinal cord were present in 11 of 11 cases and were the diagnostic features of AOAD. Minimal to moderate supratentorial periventricular abnormalities were seen in 8 patients but were absent in the 3 oldest patients. In these patients, postcontrast enhancement was also absent. Mean diffusivity was not altered except in abnormal white matter (WM). Increase in myo-inositol (mlns) was also restricted to abnormal periventricular WM.CONCLUSIONS: Awareness of the MR pattern described allows an effective selection of the patients who need genetic investigations for the GFAP gene. This MR pattern even led to identification of asymptomatic cases and should be regarded as highly characteristic of AOAD.