J Korean Neurol Assoc.
2022 May;40(2):164-167. 10.17340/jkna.2022.2.11.
An Autopsy Confirmed Case of Amyotrophic Lateral Sclerosis with TDP Pathology
- Affiliations
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- 1Department of Neurology and Biomedical Research Institute, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea
- 2Department of Rehabilitation Medicine, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Korea
- 3Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
- 4Department of Neurology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Korea
- 5Department of Psychiatry , Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea
- 6Department of Rehabilitation Medicine, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea
- 7Department of Nuclear Medicine, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea
- 8Department of Neurosurgery, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea
- 9Department of Pathology, Pusan National University School of Medicine, Busan, Korea
- 10Department of Anatomy, Pusan National University School of Medicine, Busan, Korea
- 11Department of Forensic Medicine, Pusan National University School of Medicine, Busan, Korea
- KMID: 2529610
- DOI: http://doi.org/10.17340/jkna.2022.2.11
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.
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