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.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/neuropathology-of-a-south-korean-with-perry-syndrome-with-dctn1-t78c-mutation/