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Case Report

Neuronal and glial intranuclear inclusions in a patient with oculopharyngodistal myopathy associated with noncoding GGC repeat expansions in GIPC1

Kaoru Yagita, Hotake Takizawa, Terunori Sano, Yuji Nakayma, Masashi Ogasawara, Ichizo Nishino, Yasushi Ohya, Yuji Takahashi, and Masaki Takao

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Volume 45 (2026) p. 107 - 114

Abstract

Clinical Neuropathology, Vol. 45 – No. 3/2026 (107-114)

Neuronal and glial intranuclear inclusions in a patient with oculopharyngodistal myopathy associated with noncoding GGC repeat expansions in GIPC1

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

¹Neuropathology Division, Department of Laboratory Medicine, ²Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, ³Department of Pathology, Keio University School of Medicine, and ⁴Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
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.Correspondence to:
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, Japan
Email: [email protected]

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