Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy
Nanaka YamaguchiTatsuo ManoRyo OhtomoHiroyuki IshiuraM. Asem AlmansourHarushi MoriJunko KandaYuichiro ShirotaKenichiro TairaTeppei MorikawaMasako IkemuraYasuo YanagiShigeo MurayamaJun ShimizuYasuhisa SakuraiShoji TsujiAtsushi Iwata
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JOURNALS OPEN ACCESS

2018 Volume 57 Issue 23 Pages 3459-3462

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Abstract

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.

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© 2018 by The Japanese Society of Internal Medicine
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