• Takayasu Mishima, Shunsuke Koga, Wen-Lang Lin, Koji Kasanuki, Monica Castanedes-Casey, Zbigniew K Wszolek, Shin J Oh, Yoshio Tsuboi, and Dennis W Dickson.
• Department of Neuroscience, Mayo Clinic, Jacksonville, Florida (TM, SK, W-LL, KK, MC-C, DWD); Department of Neurology, Fukuoka University, Fukuoka, Japan (TM, YT); Department of Neurology, Mayo Clinic, Jacksonville, Florida (ZKW); and Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama (SJO).
• J. Neuropathol. Exp. Neurol. 2017 Aug 1; 76 (8): 676-682.

AbstractPerry syndrome is a rare atypical parkinsonism with depression, apathy, weight loss, and central hypoventilation caused by mutations in dynactin p150glued (DCTN1). A rare distal hereditary motor neuropathy, HMN7B, also has mutations in DCTN1. Perry syndrome has TAR DNA-binding protein of 43 kDa (TDP-43) inclusions as a defining feature. Other TDP-43 proteinopathies include amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with and without motor neuron disease (FTLD-MND). TDP-43 forms aggregates in neuronal cytoplasmic inclusions (NCIs), neuronal intranuclear inclusions, dystrophic neurites (DNs), as well as axonal spheroids, oligodendroglial cytoplasmic inclusions, and perivascular astrocytic inclusions (PVIs). We performed semiquantitative assessment of these lesions and presence of dynactin subunit p50 lesions in 3 cases of Perry syndrome and one of HMN7B. We compared them with 3 cases of FTLD-MND, 3 of ALS, and 3 of hippocampal sclerosis (HpScl). Perry syndrome had NCIs, DNs, and frequent PVIs and spheroids. Perry syndrome cases were similar, but different from ALS, FTLD-MND, and HpScl. TDP-43 pathology was not detected in HMN7B. Dynactin p50 inclusions were observed in both Perry syndrome and HMN7B, but not in the other conditions. These results suggest that Perry syndrome may be distinctive type of TDP-43 proteinopathy.© 2017 American Association of Neuropathologists, Inc. All rights reserved.

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