Vallat Jean-Michel, Ouvrier Robert A, Pollard John D, Magdelaine Corinne, Zhu Danqing, Nicholson Garth A, Grew Simon, Ryan Monique M, Funalot Benoît
Laboratoire de Neurologie, Centre de Référence des Neuropathies Périphériques Rares, CHU de Limoges, Limoges, France.
J Neuropathol Exp Neurol. 2008 Nov;67(11):1097-102. doi: 10.1097/NEN.0b013e31818b6cbc.
Neuropathologic abnormalities can be sufficiently characteristic to suggest the genetic basis of some hereditary neuropathies such as those associated with mutations in MPZ, GJB1, GDAP1, MTMR2, SH3TC2, PRX, FGD4, and LMNA. We analyzed the morphologic features of 9 sural nerve biopsies from 6 patients with mutations of mitofusin 2. All patients presented in early childhood with axonal neuropathies designated as mild or severe motor and sensory neuropathy. In all cases, there was a marked decrease in density of myelinated fibers, mainly of large diameter fibers. These changes were more marked in the second biopsies of 3 patients that were performed from 7 to 19 years after the first biopsies. Neurophysiologic findings were most suggestive of axonal degeneration, but some onion bulbs were present in all cases. Axonal mitochondria were smaller than normal, were round, and were abnormally aggregated. These changes may result from abnormal mitochondrial fusion and fission. The results suggest that these clinical and pathological features may be sufficiently characteristic to suggest the diagnosis of mitofusin 2-related neuropathy.
神经病理学异常可能具有足够的特征，提示某些遗传性神经病的遗传基础，例如与MPZ、GJB1、GDAP1、MTMR2、SH3TC2、PRX、FGD4和LMNA突变相关的那些遗传性神经病。我们分析了6例患有线粒体融合蛋白2突变患者的9份腓肠神经活检标本的形态学特征。所有患者在幼儿期均表现为轴索性神经病，被指定为轻度或重度运动和感觉神经病。在所有病例中，有髓纤维密度显著降低，主要是大直径纤维。这些变化在3例患者的第二次活检中更为明显，第二次活检是在第一次活检后7至19年进行 的。神经生理学结果最提示轴索性变性，但所有病例中均存在一些洋葱球。轴突线粒体比正常线粒体小，呈圆形，且异常聚集。这些变化可能是由线粒体融合和裂变异常导致的。结果表明，这些临床和病理特征可能具有足够的特征来提示线粒体融合蛋白2相关神经病的诊断。
