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Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews

Department of Neurology, Tel Aviv Medical Center, Tel Aviv, Israel (Dr. Blumen) (Dr. Nisipeanu) (Dr. Korczyn) (Dr. Asherov)
Chaim Sheba Medical Center at Tel Hashomer, Israel (Dr. Sadeh)
Groupe de Recherche de Biologie et Pathologie Neuromusculaire, INSERM U.153, Paris, France. (Miss Rouche) (Dr. Tomé)

Address correspondence and reprint requests to Dr Korczyn, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.

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 IN1 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 IN1 are pathognomonic for OPMD and suggest that their frequency may be quantitatively related to the number of abnormal DNA copies.

Received August 30, 1993. Accepted in final form August 31, 1995.

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