C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies
Hexanucleotide expansion in C9orf72 has been related to several phenotypes to date, complicating the clinical recognition of these neurodegenerative disorders. An early diagnosis can improve the management of patients, promoting early administration of therapeutic supportive strategies. Here, we rep...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-06-01
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| Series: | Frontiers in Aging Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnagi.2022.907122/full |
| _version_ | 1811258196222803968 |
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| author | Stefania Zampatti Cristina Peconi Rosa Campopiano Stefano Gambardella Stefano Gambardella Carlo Caltagirone Emiliano Giardina Emiliano Giardina |
| author_facet | Stefania Zampatti Cristina Peconi Rosa Campopiano Stefano Gambardella Stefano Gambardella Carlo Caltagirone Emiliano Giardina Emiliano Giardina |
| author_sort | Stefania Zampatti |
| collection | DOAJ |
| description | Hexanucleotide expansion in C9orf72 has been related to several phenotypes to date, complicating the clinical recognition of these neurodegenerative disorders. An early diagnosis can improve the management of patients, promoting early administration of therapeutic supportive strategies. Here, we report known clinical presentations of C9orf72-related neurodegenerative disorders, pointing out suggestive phenotypes that can benefit the genetic characterization of patients. Considering the high variability of C9orf72-related disorder, frequent and rare manifestations are described, with detailed clinical, instrumental evaluation, and supportive therapeutical approaches. Furthermore, to improve the understanding of molecular pathways of the disease and potential therapeutical targets, a detailed description of the cellular mechanisms related to the pathological effect of C9orf72 is reported. New promising therapeutical strategies and ongoing studies are reported highlighting their molecular role in cellular pathological pathways of C9orf72. These therapeutic approaches are particularly promising because they seem to stop the disease before neuronal damage. The knowledge of clinical and molecular features of C9orf72-related neurodegenerative disorders improves the therapeutical application of known strategies and will lay the basis for the development of new potential therapies. |
| first_indexed | 2024-04-12T18:09:28Z |
| format | Article |
| id | doaj.art-bf38f77ed82b4db8b2f15fe1bbec4529 |
| institution | Directory Open Access Journal |
| issn | 1663-4365 |
| language | English |
| last_indexed | 2024-04-12T18:09:28Z |
| publishDate | 2022-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Aging Neuroscience |
| spelling | doaj.art-bf38f77ed82b4db8b2f15fe1bbec45292022-12-22T03:21:52ZengFrontiers Media S.A.Frontiers in Aging Neuroscience1663-43652022-06-011410.3389/fnagi.2022.907122907122C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic StrategiesStefania Zampatti0Cristina Peconi1Rosa Campopiano2Stefano Gambardella3Stefano Gambardella4Carlo Caltagirone5Emiliano Giardina6Emiliano Giardina7Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, Rome, ItalyGenomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, Rome, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyDepartment of Biomolecular Sciences, University of Urbino “Carlo Bo”, Urbino, ItalyDepartment of Clinical and Behavioral Neurology, IRCCS Fondazione Santa Lucia, Rome, ItalyGenomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, Rome, ItalyDepartment of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, ItalyHexanucleotide expansion in C9orf72 has been related to several phenotypes to date, complicating the clinical recognition of these neurodegenerative disorders. An early diagnosis can improve the management of patients, promoting early administration of therapeutic supportive strategies. Here, we report known clinical presentations of C9orf72-related neurodegenerative disorders, pointing out suggestive phenotypes that can benefit the genetic characterization of patients. Considering the high variability of C9orf72-related disorder, frequent and rare manifestations are described, with detailed clinical, instrumental evaluation, and supportive therapeutical approaches. Furthermore, to improve the understanding of molecular pathways of the disease and potential therapeutical targets, a detailed description of the cellular mechanisms related to the pathological effect of C9orf72 is reported. New promising therapeutical strategies and ongoing studies are reported highlighting their molecular role in cellular pathological pathways of C9orf72. These therapeutic approaches are particularly promising because they seem to stop the disease before neuronal damage. The knowledge of clinical and molecular features of C9orf72-related neurodegenerative disorders improves the therapeutical application of known strategies and will lay the basis for the development of new potential therapies.https://www.frontiersin.org/articles/10.3389/fnagi.2022.907122/fullneurodegenerationC9orf72ALSFTDtherapeutic strategiesmolecular mechanisms |
| spellingShingle | Stefania Zampatti Cristina Peconi Rosa Campopiano Stefano Gambardella Stefano Gambardella Carlo Caltagirone Emiliano Giardina Emiliano Giardina C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies Frontiers in Aging Neuroscience neurodegeneration C9orf72 ALS FTD therapeutic strategies molecular mechanisms |
| title | C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies |
| title_full | C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies |
| title_fullStr | C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies |
| title_full_unstemmed | C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies |
| title_short | C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies |
| title_sort | c9orf72 related neurodegenerative diseases from clinical diagnosis to therapeutic strategies |
| topic | neurodegeneration C9orf72 ALS FTD therapeutic strategies molecular mechanisms |
| url | https://www.frontiersin.org/articles/10.3389/fnagi.2022.907122/full |
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