Session Information
Date: Saturday, October 6, 2018
Session Title: Rare Genetic and Metabolic Diseases
Session Time: 1:45pm-3:15pm
Location: Hall 3FG
Objective: To analyze macroscopic and microscopic findings of the Korean patient with Perry syndrome (PS), who had been already established about clinical features with genetic mutation in the DCTN1 gene.
Background: Distinctive neuropathology of PS reveals severe neuronal loss in the substantia nigra (SN) and transactive-response DNA binding protein 43 (TDP-43) immunoreactive inclusion bodies.
Methods: Autopsy brain tissue was evaluated molecular pathology with immunohistochemistry for phosphorylated TDP-43.
Results: The SN and locus coeruleus were severely depigmented. TDP-43 positive neuronal cytoplasmic inclusions, dystrophic neurites, and glial cytoplasmic inclusions were in surviving SN neurons. Some neurofibrillary tangles (NFTs) were also seen in the parahippocampal gyrus.
Conclusions: The Korean patient with PS is the first to come to autopsy. The neuropathology, including TDP-43 proteinopathy, is comparable to that reported previously in caucasion populations. We found additional NFTs in the parahippocampal gyrus, the pathology similar to that described as primary age-related tauopathy (PART). These observations suggest that comorbid age-related neuropathologic change may also contribute to cognitive impairment in PS.
To cite this abstract in AMA style:
S. Kim, E. Chung, J. Baik. Neuropathology of a South Korean with Perry syndrome with DCTN1 T78C mutation [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/neuropathology-of-a-south-korean-with-perry-syndrome-with-dctn1-t78c-mutation/. Accessed October 10, 2024.« Back to 2018 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/neuropathology-of-a-south-korean-with-perry-syndrome-with-dctn1-t78c-mutation/