著者

Nanaka Yamaguchi Tatsuo Mano Ryo Ohtomo Hiroyuki Ishiura M. Asem Almansour Harushi Mori Junko Kanda Yuichiro Shirota Kenichiro Taira Teppei Morikawa Masako Ikemura Yasuo Yanagi Shigeo Murayama Jun Shimizu Yasuhisa Sakurai Shoji Tsuji Atsushi Iwata

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.57, no.23, pp.3459-3462, 2018-12-01 (Released:2018-12-01)

参考文献数

10

被引用文献数

6 20

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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.