TY - JOUR
T1 - Perry syndrome
T2 - A distinctive type of TDP-43 proteinopathy
AU - Mishima, Takayasu
AU - Koga, Shunsuke
AU - Lin, Wen Lang
AU - Kasanuki, Koji
AU - Castanedes-Casey, Monica
AU - Wszolek, Zbigniew K.
AU - Oh, Shin J.
AU - Tsuboi, Yoshio
AU - Dickson, Dennis W.
N1 - Publisher Copyright:
© 2017 American Association of Neuropathologists, Inc. All rights reserved.
PY - 2017/8/1
Y1 - 2017/8/1
N2 - Perry 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.
AB - Perry 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.
KW - Amyotrophic lateral sclerosis
KW - DCTN1
KW - Distal hereditary motor neuropathy 7B
KW - Frontotemporal lobar degeneration with motor neuron disease
KW - Perivascular astrocytic inclusions
KW - Perry syndrome
KW - TDP-43
UR - http://www.scopus.com/inward/record.url?scp=85025685700&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85025685700&partnerID=8YFLogxK
U2 - 10.1093/jnen/nlx049
DO - 10.1093/jnen/nlx049
M3 - Article
C2 - 28789478
AN - SCOPUS:85025685700
SN - 0022-3069
VL - 76
SP - 676
EP - 682
JO - Journal of Neuropathology and Experimental Neurology
JF - Journal of Neuropathology and Experimental Neurology
IS - 8
ER -