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Case Report

Bizarre astrocytes with cytoplasmic/intranuclear inclusions in an individual with alternating hemiplegia, migraine, and brain swelling associated with a GGC repeat expansion in NOTCH2NLC

Kaoru Yagita, Kyoko Kanazawa, Terunori Sano, Kunio Toda, Yuji Nakayma, Risa Kagaya, Noriko Sato, Yuji Takahashi, and Masaki Takao

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Volume 45 (2026) p. 17 - 25

Abstract

Clinical Neuropathology, Vol. 45 – No. 1/2026 (17-25)

Bizarre astrocytes with cytoplasmic/intranuclear inclusions in an individual with alternating hemiplegia, migraine, and brain swelling associated with a GGC repeat expansion in NOTCH2NLC

Kaoru Yagita¹, Kyoko Kanazawa², Terunori Sano¹#³, Kunio Toda⁴, Yuji Nakayma⁵, Risa Kagaya⁶, Noriko Sato⁶, Yuji Takahashi², and Masaki Takao¹,³

¹Neuripathology Division, Department of Laboratory Medicine, ²Department of Neurology, ³Department of Internal Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, ⁴Department of Neurology, Shin-Matsudo-Chuo-Sogo Hospital, Chiba, ⁵Department of Pathology, Keio University School of Medicine, and ⁶Department of Radiology, National Center of Neurology and Psychiatry, Tokyo, Japan
The aberrant GGC repeat expansion in the 5′-untranslated region of the NOTCH2NLC gene causes neuronal intranuclear inclusion disease (NIID), a progressive neurodegenerative disorder. The clinical features of NIID are highly variable and include cognitive dysfunction, peripheral neuropathy, and episodic neurogenic symptoms. The pathogenesis of episodic symptoms in NIIDs remains unknown, and histopathological studies are limited. Here, we report an autopsy case of NIID in a 32-year-old Japanese female who developed severe episodic symptoms, including hemiplegic migraine, seizures, and impaired consciousness. Her major episodic symptoms appeared at the age of 16 years and were accompanied by alternating brain edema. She developed severe episodic symptoms with right brain edema at the age of 31. She became bedridden due to irreversible brain lesions and died 1 year later from a catheter-related bloodstream infection. Neuropathological analyses revealed numerous neuronal intranuclear inclusions and white matter lesions. In addition, bizarre astrocytes with eosinophilic cytoplasmic or intranuclear inclusions were observed. GFAP immunoreactivity in the bizarre astrocytes was diminished, AQP4 showed a disorganized distribution. The histological changes observed in this case suggest an association between non-neuronal cellular disturbances and episodic neurogenic symptoms in NIIDs.Correspondence to:
Masaki Takao, MD, PhD
Department of Laboratory Medicine
National Center Hospital
National Center of Neurology and Psychiatry
Tokyo, Japan
Email: [email protected]

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

Price
42.00 $

Price

42.00 $

Add to Cart ###ENGLISH_ABSTRACT_LINK### ###FREE_ENGLISH_ARTICLE_DOWNLIAD_LINK###

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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