Perry disease is a hereditary neurodegenerative disease with autosomal dominant inheritance. It is characterized by parkinsonism, psychiatric symptoms, unexpected weight loss, central hypoventilation, and transactive-response DNA-binding protein of 43kD (TDP-43) aggregation in the brain. In 2009, Perry disease was found to be caused by dynactin I gene (DCTN1), which encodes dynactin subunit p150 on chromosome 2p, in patients with the disease. The dynactin complex is a motor protein that is associated with axonal transport. Presently, at least 8 mutations and 22 families have been reported; other than the “classic” syndrome, distinct phenotypes are recognized. The neuropathology of Perry disease reveals severe degeneration in the substantia nigra and TDP-43 inclusions in the basal ganglia and brain stem. How dysfunction of the dynactin molecule is related to TDP-43 pathology in Perry disease is important to elucidate the pathological mechanism and develop new treatment.
Citations
Citations to this article as recorded by
Current advances in the clinical management of Perry syndrome: is there hope for the future? Tomasz Chmiela, Zbigniew K. Wszolek Expert Review of Neurotherapeutics.2026; 26(2): 165. CrossRef
Genetic and environmental risk factors of Parkinsonism Petr Kanovsky, Katerina Mensikova, Pavel Cupr, Radek Vodicka, Kristyna Kolarikova, Tereza Strnadova, Sarah Elizabeth Victoria Cook, Dorota Sebelova-Konickova, Jana Klanova, Carlo Colosimo, Raymond Rosales Journal of Neural Transmission.2026;[Epub] CrossRef
Two cases of Perry disease (Perry syndrome) in the same family with normal 123I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy Yoshito Take, Ryuji Saigo, Hitoshi Arata, Yusuke Sakiyama, Kimiyoshi Arimura, Hideki Ohkatsu Rinsho Shinkeigaku.2025; 65(2): 115. CrossRef
Concomitant Pathologies and Their Impact on Parkinson Disease: A Narrative Overview of Current Evidence Kurt A. Jellinger International Journal of Molecular Sciences.2025; 26(7): 2942. CrossRef
TDP-43-proteinopathy at the crossroads of tauopathy: on copathology and current and prospective biomarkers Abdul R. Nasir, Claire Delpirou Nouh Frontiers in Cellular Neuroscience.2025;[Epub] CrossRef
Human Mutant Dynactin Subunit 1 Causes Profound Motor Neuron Disease Consistent with Possible Mechanisms Involving Axonopathy, Mitochondriopathy, Protein Nitration, and T-Cell-Mediated Cytolysis Victor Xie, Maria Clara Franco, Lee J. Martin Biomolecules.2025; 15(12): 1637. CrossRef
Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study Xiaorong Hou, Xuxiong Tang, Yuwen Zhao, Ziqin Liu, Jiajian Zhang, Ziwei Gong, Zhineng Kang, Ziwen Li, Han Chen, Junling Wang, Beisha Tang, Xiaoxia Zhou, Lifang Lei npj Genomic Medicine.2025;[Epub] CrossRef
PSP-Richardson syndrome mimics: An overview and pragmatic approach J. Necpál, M. Borsek, B. Jeleňová Revue Neurologique.2024; 180(1-2): 12. CrossRef
Perry Disease: Bench to Bedside Circulation and a Team Approach Takayasu Mishima, Junichi Yuasa-Kawada, Shinsuke Fujioka, Yoshio Tsuboi Biomedicines.2024; 12(1): 113. CrossRef
Dysregulation of stress granule dynamics by DCTN1 deficiency exacerbates TDP-43 pathology in Drosophila models of ALS/FTD Tetsuhiro Ueda, Toshihide Takeuchi, Nobuhiro Fujikake, Mari Suzuki, Eiko N. Minakawa, Morio Ueyama, Yuzo Fujino, Nobuyuki Kimura, Seiichi Nagano, Akio Yokoseki, Osamu Onodera, Hideki Mochizuki, Toshiki Mizuno, Keiji Wada, Yoshitaka Nagai Acta Neuropathologica Communications.2024;[Epub] CrossRef
First family with Perry syndrome from Mexico Leonardo Flores‑Lagunes, Luis Del Pozo‑Yauner, Karol Carrillo‑Sánchez, Carolina Molina‑Garay, Marco Jiménez‑Olivares, Joaquin Garcia‑Solorio, Ulises Rodríguez Corona, Guillermo Herrera, Edgar Ricardez‑Marcial, Carmen Alaez‑verson Biomedical Reports.2024;[Epub] CrossRef
Perry Disease: Current Outlook and Advances in Drug Discovery Approach to Symptomatic Treatment Zbigniew Gajda, Magdalena Hawrylak, Jadwiga Handzlik, Kamil J. Kuder International Journal of Molecular Sciences.2024; 25(19): 10652. CrossRef
Extubation failure due to atypical parkinsonism with negligible motor and variable non-motor symptoms associated with a variant of DCTN1 Hidetada Yamada, Shuichiro Neshige, Hiroyuki Morino, Hirofumi Maruyama Internal and Emergency Medicine.2023; 18(1): 329. CrossRef
Deficiency of Perry syndrome-associated p150Glued in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities Jia Yu, Xuan Yang, Jiayin Zheng, Carmelo Sgobio, Lixin Sun, Huaibin Cai npj Parkinson's Disease.2023;[Epub] CrossRef
Pathogenic Aspects and Therapeutic Avenues of Autophagy in Parkinson’s Disease Rémi Kinet, Benjamin Dehay Cells.2023; 12(4): 621. CrossRef
The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson’s disease in mainland China Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wang npj Parkinson's Disease.2023;[Epub] CrossRef
Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease Jarosław Dulski, Shunsuke Koga, Mercedes Prudencio, Philip W. Tipton, Shan Ali, Audrey J. Strongosky, Juliana H. Rose, Zoe A. Parrales, Judith A. Dunmore, Karen Jansen-West, Leonard Petrucelli, Dennis W. Dickson, Zbigniew K. Wszolek Parkinsonism & Related Disorders.2023; 112: 105481. CrossRef
Perry Disease: Expanding the Genetic Basis Jarosław Dulski, Shunsuke Koga, Paweł P. Liberski, Emilia J. Sitek, Ankur A. Butala, Jarosław Sławek, Dennis W. Dickson, Zbigniew K. Wszolek Movement Disorders Clinical Practice.2023; 10(7): 1136. CrossRef
Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing Fangzhi Jia, Avi Fellner, Kishore Raj Kumar Genes.2022; 13(3): 471. CrossRef
Perry disease in an Argentine family due to the DCTN1 p.G67D variant Emanuel Silva, Tatiana Itzcovich, Matías Niikado, Alejandro Caride, Elmer Fernández, Juan Carlos Vázquez, Leonardo Romorini, Mariela Marazita, Gustavo Sevlever, Horacio Martinetto, Ezequiel I. Surace Parkinsonism & Related Disorders.2022; 97: 63. CrossRef
Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review Jarosław Dulski, Catalina Cerquera‐Cleves, Lukasz Milanowski, Alexa Kidd, Emilia J. Sitek, Audrey Strongosky, Ana María Vanegas Monroy, Dennis W. Dickson, Owen A. Ross, Jolanta Pentela‐Nowicka, Jarosław Sławek, Zbigniew K. Wszolek European Journal of Neurology.2021; 28(12): 4010. CrossRef
Behavioral profile in a Dctn1G71A knock-in mouse model of Perry disease Manami Deshimaru, Takayasu Mishima, Takuya Watanabe, Kaori Kubota, Mana Hosoi, Mariko Kinoshita-Kawada, Junichi Yuasa-Kawada, Maiko Ikeda, Masayoshi Mori, Yusuke Murata, Takaya Abe, Munechika Enjoji, Hiroshi Kiyonari, Shohta Kodama, Shinsuke Fujioka, Kats Neuroscience Letters.2021; 764: 136234. CrossRef