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• W2338867595 abstract "Background: Neuronal intranuclear inclusion disease (NIID), also known as neuronal intranuclear hyaline inclusion disease (NIHID) or intranuclear inclusion body disease (INIBD), is a progressive neurodegenerative disease characterized by widespread presence of eosinophilic hyaline intranuclear inclusions in neuronal cells and somatic cells. Recently, the capability of skin biopsy for antemortem diagnosis of familial and sporadic NIID was reported. After these reports, the number of NIID cases diagnosed by skin biopsy is increasing remarkably. We studied clinical and pathological features of NIID cases presenting leukoencephalopathy. Methods: We studied skin biopsy samples of 37 cases of sporadic NIID diagnosed by skin biopsy who presented with dementia, leukoencepharopathy and characteristic MRI DWI high signal in cortico-medullary junction. Skin biopsy samples were collected under local anesthesia. A 3-mm-diameter punch biopsy specimen was obtained at 10 cm above the lateral malleolus. All samples were fixed in 10[percnt] formalin. Sections of all samples (4μm) were stained by hematoxylin & eosin (H&E), and immunohistochemical analysis was performed with anti-ubiquitin antibody. Samples for electron microscopy were fixed in glutaraldehyde in cacodylate buffer and embedded in epoxy resin. We diagnosed as NIID with cases presenting ubiquitin positive intranuclear inclusions in all three type of cells (adipocytes, fibroblasts and sweat gland cells). Results: Almost all NIID cases with leukoencephalopathy present cognitive dysfunction, and ataxia, abnormal behavior and epilepsy were also observed. Weakness and sensory disturbance were sub-clinical and confirmed by neurological examinations and nerve conduction studies. About 90[percnt] of NIID cases showed abnormal results of nerve conduction studies. Conclusions: NIID cases with leukoencephalopathy present peripheral nerve damage. To elucidate the pathophysiology of NIID, we will promote the antemortem diagnosis of NIID with skin biopsy. Disclosure: Dr. Sone has received personal compensation from Japan Blood Products Organization. Dr. Inagaki has nothing to disclose. Dr. Mori has nothing to disclose. Dr. Araki has nothing to disclose. Dr. Masuda has nothing to disclose. Dr. Yoshida has nothing to disclose. Dr. Iwasaki has nothing to disclose. Dr. Tanaka has nothing to disclose. Dr. Katsuno has nothing to disclose. Dr. Sobue has nothing to disclose." @default.
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• W2338867595 date "2016-04-05" @default.
• W2338867595 modified "2023-09-24" @default.
• W2338867595 title "Clinical Manifestations of Adult Onset Neuronal Intranuclear Inclusion Disease Cases Presenting Leukoencephalopathy (P2.240)" @default.
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