Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Mov Disord. 2012 Jul;27(8):1041-6. doi: 10.1002/mds.25060. Epub 2012 Jun 12.
Atrophy of the pontine tegmentum and facial colliculus is a characteristic pathological feature of Machado-Joseph disease. We assessed whether this finding can be detected by conventional brain magnetic resonance imaging. A total of 17 patients with genetically confirmed Machado-Joseph disease, 15 disease controls (spinocerebellar ataxia type 6 and dentatorubral-pallidoluysian atrophy), and 17 normal subjects were examined using a 1.5-Tesla magnetic resonance imaging scanner. The widths of the facial colliculus, pontine tegmentum, and pontine base and the area of the fourth ventricle were measured on axial T2-weighted imaging. Pathological examination was performed in 9 Machado-Joseph disease patients. In addition, visual inspection of the facial colliculus was evaluated by receiver operating characteristic analysis. The width of the facial colliculus was significantly smaller in Machado-Joseph disease patients (0.37 ± 0.16 mm; mean ± standard deviation) than in normal subjects (0.73 ± 0.30 mm; P < .01), whereas the width of the pontine tegmentum was smaller in both Machado-Joseph disease (4.85 ± 0.58 mm) and dentatorubral-pallidoluysian atrophy (4.72 ± 0.59) patients than in normal subjects (6.35 ± 0.74 mm; P < .01). Visual evaluation of the facial colliculus showed sufficient area under the receiver operating characteristic curves to differentiate Machado-Joseph disease from dentatorubral-pallidoluysian atrophy (0.78) and spinocerebellar ataxia type 6 (0.87). Pathological evaluation showed significant atrophy of the facial colliculus in all Machado-Joseph disease patients. Atrophy of the facial colliculus is a feasible magnetic resonance imaging finding for diagnosing Machado-Joseph disease, and it is easily found as a flattening of the fourth ventricular floor.
桥脑被盖萎缩和面丘萎缩是 Machado-Joseph 病的特征性病理特征。我们评估了常规脑磁共振成像是否可以检测到这一发现。共对 17 例经基因证实的 Machado-Joseph 病患者、15 例疾病对照组（脊髓小脑性共济失调 6 型和齿状核红核苍白球路易体萎缩症）和 17 名正常受试者进行了 1.5-T 磁共振成像扫描仪检查。在轴位 T2 加权成像上测量面丘、桥脑被盖、桥脑基底部的宽度和第四脑室的面积。对 9 例 Machado-Joseph 病患者进行了病理检查。此外，通过接受者操作特征分析对面丘进行了视觉评估。Machado-Joseph 病患者的面丘宽度明显小于正常对照组（0.37 ± 0.16 mm；均值 ± 标准差）（0.73 ± 0.30 mm；P <.01），而 Machado-Joseph 病（4.85 ± 0.58 mm）和齿状核红核苍白球路易体萎缩症（4.72 ± 0.59）患者的桥脑被盖宽度均小于正常对照组（6.35 ± 0.74 mm；P <.01）。对面丘的视觉评估显示，区分 Machado-Joseph 病与齿状核红核苍白球路易体萎缩症（0.78）和脊髓小脑性共济失调 6 型（0.87）的接受者操作特征曲线下面积足够大。病理评估显示所有 Machado-Joseph 病患者的面丘均有明显萎缩。面丘萎缩是诊断 Machado-Joseph 病的一种可行的磁共振成像发现，容易发现为第四脑室底部变平。
