Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope?
Parkinson’s disease (PD) is a multifarious neurodegenerative disease. Its pathology is characterized by a prominent early death of dopaminergic neurons in the pars compacta of the substantia nigra and the presence of Lewy bodies with aggregated α-synuclein. Although the α-synuclein pathological aggr...
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| Format: | Article |
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MDPI AG
2023-02-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/12/5/764 |
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| author | Francesco Cavallieri Rubens G. Cury Thiago Guimarães Valentina Fioravanti Sara Grisanti Jessica Rossi Edoardo Monfrini Marialuisa Zedde Alessio Di Fonzo Franco Valzania Elena Moro |
| author_facet | Francesco Cavallieri Rubens G. Cury Thiago Guimarães Valentina Fioravanti Sara Grisanti Jessica Rossi Edoardo Monfrini Marialuisa Zedde Alessio Di Fonzo Franco Valzania Elena Moro |
| author_sort | Francesco Cavallieri |
| collection | DOAJ |
| description | Parkinson’s disease (PD) is a multifarious neurodegenerative disease. Its pathology is characterized by a prominent early death of dopaminergic neurons in the pars compacta of the substantia nigra and the presence of Lewy bodies with aggregated α-synuclein. Although the α-synuclein pathological aggregation and propagation, induced by several factors, is considered one of the most relevant hypotheses, PD pathogenesis is still a matter of debate. Indeed, environmental factors and genetic predisposition play an important role in PD. Mutations associated with a high risk for PD, usually called monogenic PD, underlie 5% to 10% of all PD cases. However, this percentage tends to increase over time because of the continuous identification of new genes associated with PD. The identification of genetic variants that can cause or increase the risk of PD has also given researchers the possibility to explore new personalized therapies. In this narrative review, we discuss the recent advances in the treatment of genetic forms of PD, focusing on different pathophysiologic aspects and ongoing clinical trials. |
| first_indexed | 2024-03-11T07:28:54Z |
| format | Article |
| id | doaj.art-947854612330497b9de9d0f86362a744 |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-11T07:28:54Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-947854612330497b9de9d0f86362a7442023-11-17T07:27:49ZengMDPI AGCells2073-44092023-02-0112576410.3390/cells12050764Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope?Francesco Cavallieri0Rubens G. Cury1Thiago Guimarães2Valentina Fioravanti3Sara Grisanti4Jessica Rossi5Edoardo Monfrini6Marialuisa Zedde7Alessio Di Fonzo8Franco Valzania9Elena Moro10Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, ItalyDepartment of Neurology, School of Medicine, University of São Paulo, São Paulo 05403-000, BrazilDepartment of Neurology, School of Medicine, University of São Paulo, São Paulo 05403-000, BrazilNeurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, ItalyClinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, 41125 Modena, ItalyNeurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, ItalyNeurology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyNeurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, ItalyNeurology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyNeurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, ItalyDivision of Neurology, CHU of Grenoble, Grenoble Institute of Neurosciences, Grenoble Alpes University, 38700 Grenoble, FranceParkinson’s disease (PD) is a multifarious neurodegenerative disease. Its pathology is characterized by a prominent early death of dopaminergic neurons in the pars compacta of the substantia nigra and the presence of Lewy bodies with aggregated α-synuclein. Although the α-synuclein pathological aggregation and propagation, induced by several factors, is considered one of the most relevant hypotheses, PD pathogenesis is still a matter of debate. Indeed, environmental factors and genetic predisposition play an important role in PD. Mutations associated with a high risk for PD, usually called monogenic PD, underlie 5% to 10% of all PD cases. However, this percentage tends to increase over time because of the continuous identification of new genes associated with PD. The identification of genetic variants that can cause or increase the risk of PD has also given researchers the possibility to explore new personalized therapies. In this narrative review, we discuss the recent advances in the treatment of genetic forms of PD, focusing on different pathophysiologic aspects and ongoing clinical trials.https://www.mdpi.com/2073-4409/12/5/764DJ1geneticGBALRRK2Parkinson’s diseasePINK1 |
| spellingShingle | Francesco Cavallieri Rubens G. Cury Thiago Guimarães Valentina Fioravanti Sara Grisanti Jessica Rossi Edoardo Monfrini Marialuisa Zedde Alessio Di Fonzo Franco Valzania Elena Moro Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope? Cells DJ1 genetic GBA LRRK2 Parkinson’s disease PINK1 |
| title | Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope? |
| title_full | Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope? |
| title_fullStr | Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope? |
| title_full_unstemmed | Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope? |
| title_short | Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope? |
| title_sort | recent advances in the treatment of genetic forms of parkinson s disease hype or hope |
| topic | DJ1 genetic GBA LRRK2 Parkinson’s disease PINK1 |
| url | https://www.mdpi.com/2073-4409/12/5/764 |
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