Journal
NEUROLOGY
Volume 76, Issue 16, Pages 1372-1376Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e3182166e13
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Funding
- Ministry of Education, Culture, Sports, Science and Technology of Japan [21659221, 22390175, 21591076, 21689024, 2110005, 21500339, 21229011, 17025020, 09042025]
- Ministry of Health, Welfare and Labor of Japan
- Ministry of Welfare, Health and Labor of Japan
- Japan Science and Technology Agency, Core Research for Evolutional Science and Technology
- Grants-in-Aid for Scientific Research [17025020, 21229011, 21689024, 22390175, 21659221, 21500339, 21591076] Funding Source: KAKEN
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Background: Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. Because of the variety of clinical manifestations, antemortem diagnosis of NIID is difficult. Methods: Seven skin biopsy samples from patients with familial NIID were evaluated histochemically, and the results were compared with those of skin samples from normal control subjects and from patients with other neurologic diseases. We also examined skin biopsy samples from patients with NIID by electron microscopy. Results: In NIID skin biopsy samples, intranuclear inclusions were observed in adipocytes, fibroblasts, and sweat gland cells. These inclusions were stained with both anti-ubiquitin and anti-SUMO1 antibodies. Electron microscopy revealed that the features of the intranuclear inclusions in adipocytes, fibroblasts, and sweat gland cells were identical to those of neuronal cells. Approximately 10% of adipocytes showed intranuclear inclusions. No intranuclear inclusions were identified in the skin samples from normal control subjects and patients with other neurologic diseases. Conclusions: Skin biopsy is an effective and less invasive antemortem diagnostic tool for NIID. Neurology (R) 2011; 76: 1372-1376
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