Abstract

Noncoding GGC repeat expansion of various genes leads to oculopharyngodistal myopathy (OPDM), an adult-onset progressive neuromuscular disorder characterized by ophthalmoplegia, pharyngeal dysfunction, and distal limb muscular weakness. Recently, clinical overlap among noncoding GGC repeat-associated neuromuscular diseases, including OPDM, fragile X-associated tremor/ataxia syndrome (FXTAS), and neuronal intranuclear inclusion disease (NIID), has been recognized. Here, we present an autopsy case of OPDM with GIPC1 mutation (OPDM2) in a 56-year-old man. Histopathological studies revealed loss of myelinated fibers in the cerebrum and the presence of neuronal and glial intranuclear inclusions, which are commonly observed in FXTAS and NIID. Numerous intranuclear inclusions in oligodendrocytes were a characteristic feature of our autopsied case. Although GGC repeat expansions in distinct genes produce similar neuropathological findings, such as neuronal and glial intranuclear inclusions, the affected cell populations differ.

Author Details

Authors

• Kaoru Yagita¹
• Hotake Takizawa²
• Terunori Sano¹
• Yuji Nakayma³
• Masashi Ogasawara⁴
• Ichizo Nishino⁴
• Yasushi Ohya²
• Yuji Takahashi²
• Masaki Takao¹

Departments

• ¹ Neuropathology Division, Department of Laboratory Medicine,
• ² Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry,
• ³ Department of Pathology, Keio University School of Medicine, and
• ⁴ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan

Address

Masaki Takao, MD, PhD, Neuropathology Division, Department of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, 4 -1-1 Ogawahigashicho, Kodaira, Tokyo
Email: [email protected]

Citation