Neuropathological findings in a South Korean patient with Perry syndrome.

Objective: The Korean patient with Perry syndrome (PS) was the first to come to autopsy. We report a pathologically confirmed patient with PS, and compare to pathological findings of previous literatures.
Materials and Methods: The patient had a family history of parkinsonism and had a mutation in the DCTN1 gene. After death an autopsy was performed. We analyzed macroscopic and microscopic findings of the patient.
Results: There was no prominent cortical atrophy, but microscopy showed severe neuronal loss, microvacuolation, and gliosis in the substantia nigra (SN). We identified transactive response DNA-binding protein 43 (TDP-43)-positive neuronal cytoplasmic inclusions, dystrophic neurites, and glial cytoplasmic inclusions in surviving SN neurons. In addition, some neurofibrillary tangles (NFTs) were also seen in the parahippocampal gyrus.
Conclusion: The neuropathology, including TDP-43 proteinopathy, is comparable to that reported previously in Caucasian populations. In addition to the stereotypic features of PS, our patient had NFTs in the parahippocampal gyrus, the pathology similar to that is described as primary age-related tauopathy (PART). These observations suggest that comorbid age-related neuropathologic change may also contribute to cognitive impairment in PS.