Blumen S C, Sadeh M, Korczyn A D, Rouche A, Nisipeanu P, Asherov A, Tomé F M
Department of Neurology, Tel Aviv Medical Center, Israel.
Neurology. 1996 May;46(5):1324-8. doi: 10.1212/wnl.46.5.1324.
We studied, by electron microscopy, muscle biopsies from seven patients with autosomal dominant oculopharyngeal muscular dystrophy (OPMD) belonging to the recently described Bukhara-Jewish cluster. Typical tubulofilamentous intranuclear inclusions (INI) of 8.5 nm outer diameter were present in all cases. The INI were observed in 4.5 +/- 1.8% of the nuclei in five patients. In the other two, they occurred in 9.5 +/- 0.5% of the nuclei and often occupied a larger nuclear area. These two patients, offspring of intermarriage between affected cousins, had an unusually severe form of OPMD beginning in their early 30s, suggesting homozygote state. Our results confirm that INI are pathognomonic for OPMD and suggest that their frequency may be quantitatively related to the number of abnormal DNA copies.
我们通过电子显微镜研究了7例常染色体显性眼咽型肌营养不良症（OPMD）患者的肌肉活检样本，这些患者属于最近描述的布哈拉犹太人群体。所有病例均存在典型的外径为8.5纳米的管状细丝核内包涵体（INI）。在5例患者中，INI出现在4.5±1.8%的细胞核中。在另外2例患者中，INI出现在9.5±0.5%的细胞核中，且常常占据更大的核面积。这2例患者是患病表亲通婚的后代，在30岁出头时就出现了异常严重的OPMD形式，提示为纯合子状态。我们的结果证实INI是OPMD的病理特征，并且表明它们的频率可能与异常DNA拷贝数在数量上相关。
