Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

Acta Neuropathologica Communications

Research

Ikuya Nonaka¹  Narihiro Minami²  Satoru Noguchi²  Ichizo Nishino²  Theerawat Kumutpongpanich²  Shinichiro Hayashi²  Nobuyuki Eura³  Masashi Ogasawara⁴  Aritoshi Iida⁵ 

[1] Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, 187-8502, Kodaira, Tokyo, Japan;Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, 187-8502, Kodaira, Tokyo, Japan;Medical Genome Center, NCNP, Kodaira, Tokyo, Japan;Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, 187-8502, Kodaira, Tokyo, Japan;Medical Genome Center, NCNP, Kodaira, Tokyo, Japan;Department of Neurology, Nara Medical University, Nara, Japan;Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, 187-8502, Kodaira, Tokyo, Japan;Medical Genome Center, NCNP, Kodaira, Tokyo, Japan;Department of Pediatrics, Showa General Hospital, Kodaira, Tokyo, Japan;Medical Genome Center, NCNP, Kodaira, Tokyo, Japan;

关键词: Oculopharyngodistal myopathy;    LRP12;    GIPC1;    NOTCH2NLC;    CGG repeat expansion;    Oculopharyngeal muscular dystrophy;    Intranuclear inclusion;   

DOI  :  10.1186/s40478-022-01482-w

 received in 2022-10-01, accepted in 2022-11-18,  发布年份 2022

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© The Author(s) 2022

【 图 表 】

Fig. 1

12982_2022_119_Article_IEq60.gif

Fig. 1