An Autopsy Confirmed Case of Amyotrophic Lateral Sclerosis with TDP Pathology

Author: Yu-Ri JE ¹ ; Soo-Yeon KIM ; Jung-Joon SUNG ; Myung Jun LEE ; Na-Yeon JUNG ; Jae-Hyeok LEE ; Jin-Hong SHIN ; Young Min LEE ; Jin A YOON ; Kyoungjune PARK ; Junkyeung KO ; Jae Meen LEE ; Chungsu HWANG ; Jae Woo AHN ; Suk SUNG ; Kyung-Un CHOI ; Gi Yeong HUH ; Eun-Joo KIM
Author Information

1. Department of Neurology and Biomedical Research Institute, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea
Publication Type:Case Report
From:Journal of the Korean Neurological Association 2022;40(2):164-167
CountryRepublic of Korea
Language:Korean
Abstract: The phosphorylated 43-kDa transactive response DNA-binding protein (TDP-43) was identified as a major disease protein in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. We present a case with progressive muscle weakness who was diagnosed with sporadic ALS. On postmortem examination, TDP-43 immunoreactive neuronal cytoplasmic inclusions were noted in motor cortex, hippocampus and anterior horns of spinal cord, which was compatible with ALS-TDP, stage 4. This is the first documented autopsy-confirmed ALS case with ALS-TDP pathology in Korea.