Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.
Medical Genome Center, NCNP, Kodaira, Tokyo, Japan.
Acta Neuropathol Commun. 2022 Dec 7;10(1):176. doi: 10.1186/s40478-022-01482-w.
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of their myopathological features. To address the diagnostic gap, we evaluated the muscle biopsy samples for p62 expression by immunohistochemistry and compared the occurrence and the frequency of intranuclear inclusions among the individuals with OPDM (harboring CGG repeat expansion in LRP12 (n = 19), GIPC1 (n = 6), or NOTCH2NLC (n = 7)), OPMD (n = 15), and other rimmed vacuolar myopathies. We found that myonuclei with p62-positive intra-nuclear inclusions (myo-INIs) were significantly more frequent in OPMD (11.9 ± 1.1%, range 5.9-18.6%) than in OPDM and other rimmed vacuolar myopathies (RVMs) (0.9-1.5% on average, range 0.0-2.8%, p < 0.0001). In contrast, INIs in non-muscle cells such as blood vessels, peripheral nerve bundles, and muscle spindles (non-muscle-INIs) were present in OPDM, but absent in OPMD. These results indicate that OPMD can be differentiated from OPDM and other RVMs by the frequent presence of myo-INIs; and in OPDM, the presence of non-muscle-INIs in muscle pathology should be a diagnostic hallmark.
眼咽远端肌病（OPDM）和眼咽肌营养不良症（OPMD）在肌病理特征方面相似，甚至被认为难以区分。为了解决这一诊断差距，我们通过免疫组织化学评估了肌肉活检样本中 p62 的表达，并比较了 OPDM（携带 LRP12 中的 CGG 重复扩增（n=19）、GIPC1（n=6）或 NOTCH2NLC（n=7））、OPMD（n=15）和其他边缘空泡性肌病个体中核内包涵体（myo-INIs）的发生和频率。我们发现，OPMD 中具有 p62 阳性核内包涵体（myo-INIs）的肌核明显比 OPDM 和其他边缘空泡性肌病（RVMs）更为常见（11.9%±1.1%，范围 5.9-18.6%）（平均 0.9-1.5%，范围 0.0-2.8%，p<0.0001）。相比之下，OPDM 中存在血管、外周神经束和肌梭等非肌肉细胞中的 INIs（非肌肉-INIs），而 OPMD 中则不存在。这些结果表明，通过频繁存在 myo-INIs，OPMD 可以与 OPDM 和其他 RVMs 区分开来；在 OPDM 中，肌肉病理学中非肌肉 INIs 的存在应该是一个诊断特征。
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