Department of Neurology, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong, Yangcheon-ku, Seoul 158-710, Korea.
J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1203-6. doi: 10.1136/jnnp.2009.181669. Epub 2010 Jun 28.
Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A prospective brain MRI study was performed on 18 early-onset CMT patients with MFN2 mutations, and a high frequency (39%) of brain abnormalities was found. Early-onset patients showed multiple scattered or confluent brain lesions that involved gray matter as well as white matter. Patterns of brain involvement in early-onset patients differed from those of late-onset patients and other hereditary peripheral neuropathies. In addition, one CMT patient demonstrated a brain lesion before the development of peripheral neuropathy.
线粒体融合蛋白 2（MFN2）基因突变已被报道为轴索型腓骨肌萎缩症（CMT）的最常见病因。对 18 例 MFN2 基因突变的早发型 CMT 患者进行了前瞻性脑 MRI 研究，发现脑异常的发生率很高（39%）。早发型患者表现为多发性散在或融合性脑病变，累及灰质和白质。早发型患者的脑受累模式与晚发型患者和其他遗传性周围神经病不同。此外，1 例 CMT 患者在周围神经病发生前出现脑病变。
