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Review Article
- Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria
- Yoshio Tsuboi, Takayasu Mishima, Shinsuke Fujioka
- J Mov Disord. 2021;14(1):1-9. Published online September 21, 2020
- DOI: https://doi.org/10.14802/jmd.20060
- 8,948 View
- 407 Download
- 14 Web of Science
- 15 Crossref
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Abstract
PDF - 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.
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Citations
Citations to this article as recorded by
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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
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Biomedical Reports.2024;[Epub] CrossRef - Perry Disease: Current Outlook and Advances in Drug Discovery Approach to Symptomatic Treatment
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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
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Cells.2023; 12(4): 621. CrossRef - The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson’s disease in mainland China
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npj Parkinson's Disease.2023;[Epub] CrossRef - Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease
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Neuroscience Letters.2021; 764: 136234. CrossRef
- Perry Disease: Bench to Bedside Circulation and a Team Approach
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