Perry Disease: Bench to Bedside Circulation and a Team Approach
With technological applications, especially in genetic testing, new diseases have been discovered and new disease concepts have been proposed in recent years; however, the pathogenesis and treatment of these rare diseases are not as well established as those of common diseases. To demonstrate the im...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-01-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/12/1/113 |
| _version_ | 1797340083101106176 |
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| author | Takayasu Mishima Junichi Yuasa-Kawada Shinsuke Fujioka Yoshio Tsuboi |
| author_facet | Takayasu Mishima Junichi Yuasa-Kawada Shinsuke Fujioka Yoshio Tsuboi |
| author_sort | Takayasu Mishima |
| collection | DOAJ |
| description | With technological applications, especially in genetic testing, new diseases have been discovered and new disease concepts have been proposed in recent years; however, the pathogenesis and treatment of these rare diseases are not as well established as those of common diseases. To demonstrate the importance of rare disease research, in this paper we focus on our research topic, Perry disease (Perry syndrome). Perry disease is a rare autosomal dominant neurodegenerative disorder clinically characterized by parkinsonism, depression/apathy, weight loss, and respiratory symptoms including central hypoventilation and central sleep apnea. The pathological classification of Perry disease falls under TAR DNA-binding protein 43 (TDP-43) proteinopathies. Patients with Perry disease exhibit <i>DCTN1</i> mutations, which is the causative gene for the disease; they also show relatively uniform pathological and clinical features. This review summarizes recent findings regarding Perry disease from both basic and clinical perspectives. In addition, we describe technological innovations and outline future challenges and treatment prospects. We discuss the expansion of research from rare diseases to common diseases and the importance of collaboration between clinicians and researchers. Here, we highlight the importance of researching rare diseases as it contributes to a deeper understanding of more common diseases, thereby opening up new avenues for scientific exploration. |
| first_indexed | 2024-03-08T09:57:49Z |
| format | Article |
| id | doaj.art-6c75b0b4dd4d4150b04cb1c3eeecca89 |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-08T09:57:49Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-6c75b0b4dd4d4150b04cb1c3eeecca892024-01-29T13:47:15ZengMDPI AGBiomedicines2227-90592024-01-0112111310.3390/biomedicines12010113Perry Disease: Bench to Bedside Circulation and a Team ApproachTakayasu Mishima0Junichi Yuasa-Kawada1Shinsuke Fujioka2Yoshio Tsuboi3Department of Neurology, Fukuoka University, Fukuoka 814-0180, JapanDepartment of Neurology, Fukuoka University, Fukuoka 814-0180, JapanDepartment of Neurology, Fukuoka University, Fukuoka 814-0180, JapanDepartment of Neurology, Fukuoka University, Fukuoka 814-0180, JapanWith technological applications, especially in genetic testing, new diseases have been discovered and new disease concepts have been proposed in recent years; however, the pathogenesis and treatment of these rare diseases are not as well established as those of common diseases. To demonstrate the importance of rare disease research, in this paper we focus on our research topic, Perry disease (Perry syndrome). Perry disease is a rare autosomal dominant neurodegenerative disorder clinically characterized by parkinsonism, depression/apathy, weight loss, and respiratory symptoms including central hypoventilation and central sleep apnea. The pathological classification of Perry disease falls under TAR DNA-binding protein 43 (TDP-43) proteinopathies. Patients with Perry disease exhibit <i>DCTN1</i> mutations, which is the causative gene for the disease; they also show relatively uniform pathological and clinical features. This review summarizes recent findings regarding Perry disease from both basic and clinical perspectives. In addition, we describe technological innovations and outline future challenges and treatment prospects. We discuss the expansion of research from rare diseases to common diseases and the importance of collaboration between clinicians and researchers. Here, we highlight the importance of researching rare diseases as it contributes to a deeper understanding of more common diseases, thereby opening up new avenues for scientific exploration.https://www.mdpi.com/2227-9059/12/1/113Perry syndromerare diseasegenetic testingpathogenesiscommon diseaseresearch |
| spellingShingle | Takayasu Mishima Junichi Yuasa-Kawada Shinsuke Fujioka Yoshio Tsuboi Perry Disease: Bench to Bedside Circulation and a Team Approach Biomedicines Perry syndrome rare disease genetic testing pathogenesis common disease research |
| title | Perry Disease: Bench to Bedside Circulation and a Team Approach |
| title_full | Perry Disease: Bench to Bedside Circulation and a Team Approach |
| title_fullStr | Perry Disease: Bench to Bedside Circulation and a Team Approach |
| title_full_unstemmed | Perry Disease: Bench to Bedside Circulation and a Team Approach |
| title_short | Perry Disease: Bench to Bedside Circulation and a Team Approach |
| title_sort | perry disease bench to bedside circulation and a team approach |
| topic | Perry syndrome rare disease genetic testing pathogenesis common disease research |
| url | https://www.mdpi.com/2227-9059/12/1/113 |
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