An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy

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

doi:10.2169/internalmedicine.1141-18

CASE REPORTS

An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy

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

Author information

Nanaka Yamaguchi
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Tatsuo Mano
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Ryo Ohtomo
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Hiroyuki Ishiura
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
M. Asem Almansour
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Harushi Mori
Department of Radiology, Graduate School of Medicine, The University of Tokyo, Japan
Junko Kanda
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Yuichiro Shirota
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Kenichiro Taira
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Teppei Morikawa
Department of Pathology, Graduate School of Medicine, The University of Tokyo, Japan
Masako Ikemura
Department of Pathology, Graduate School of Medicine, The University of Tokyo, Japan
Yasuo Yanagi
Duke NUS Medical School, Singapore National Eye Centre, Singapore Eye Research Institute, Singapore
Shigeo Murayama
Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, Japan
Jun Shimizu
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Yasuhisa Sakurai
Department of Neurology, Mitsui Memorial Hospital, Japan
Shoji Tsuji
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Atsushi Iwata
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan

Keywords: neuronal intranuclear inclusion disease, autopsy, cognitive impairment, sensorimotor neuropathy

JOURNAL OPEN ACCESS

2018 Volume 57 Issue 23 Pages 3459-3462

DOI https://doi.org/10.2169/internalmedicine.1141-18

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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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