Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review
<p dir="ltr">Neurodegenerative disorders (NDs) cause progressive neuronal loss and are a significant public health concern, with NDs projected to become the second leading global cause of death within two decades. Huntington’s disease (HD) is a rare, progressive ND caused by an autos...
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| منشور في: |
2025
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| _version_ | 1864513534628462592 |
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| author | Sarah Aqel (17787809) |
| author2 | Jamil Ahmad (327791) Iman Saleh (14152878) Aseela Fathima (21429332) Asmaa A. Al Thani (22045214) Wael M. Y. Mohamed (11978979) Abdullah Shaito (20545181) |
| author2_role | author author author author author author |
| author_facet | Sarah Aqel (17787809) Jamil Ahmad (327791) Iman Saleh (14152878) Aseela Fathima (21429332) Asmaa A. Al Thani (22045214) Wael M. Y. Mohamed (11978979) Abdullah Shaito (20545181) |
| author_role | author |
| dc.creator.none.fl_str_mv | Sarah Aqel (17787809) Jamil Ahmad (327791) Iman Saleh (14152878) Aseela Fathima (21429332) Asmaa A. Al Thani (22045214) Wael M. Y. Mohamed (11978979) Abdullah Shaito (20545181) |
| dc.date.none.fl_str_mv | 2025-01-26T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.3390/biology14020129 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Advances_in_Huntington_s_Disease_Biomarkers_A_10-Year_Bibliometric_Analysis_and_a_Comprehensive_Review/30363793 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences Health sciences Epidemiology Public health Huntington’s disease biomarkers rare diseases neurodegenerative disorders premanifest HD preHD neurofilament light chain (NfL) microRNAs (miRNAs) diffusion tensor imaging (DTI) |
| dc.title.none.fl_str_mv | Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Neurodegenerative disorders (NDs) cause progressive neuronal loss and are a significant public health concern, with NDs projected to become the second leading global cause of death within two decades. Huntington’s disease (HD) is a rare, progressive ND caused by an autosomal-dominant mutation in the huntingtin (<i>HTT</i>) gene, leading to severe neuronal loss in the brain and resulting in debilitating motor, cognitive, and psychiatric symptoms. Given the complex pathology of HD, biomarkers are essential for performing early diagnosis, monitoring disease progression, and evaluating treatment efficacy. However, the identification of consistent HD biomarkers is challenging due to the prolonged premanifest HD stage, HD’s heterogeneous presentation, and its multiple underlying biological pathways. This study involves a 10-year bibliometric analysis of HD biomarker research, revealing key research trends and gaps. The study also features a comprehensive literature review of emerging HD biomarkers, concluding the need for better stratification of HD patients and well-designed longitudinal studies to validate HD biomarkers. Promising candidate wet HD biomarkers— including neurofilament light chain protein (NfL), microRNAs, the mutant HTT protein, and specific metabolic and inflammatory markers— are discussed, with emphasis on their potential utility in the premanifest HD stage. Additionally, biomarkers reflecting brain structural deficits and motor or behavioral impairments, such as neurophysiological (e.g., motor tapping, speech, EEG, and event-related potentials) and imaging (e.g., MRI, PET, and diffusion tensor imaging) biomarkers, are evaluated. The findings underscore that the discovery and validation of reliable HD biomarkers urgently require improved patient stratification and well-designed longitudinal studies. Reliable biomarkers, particularly in the premanifest HD stage, are crucial for optimizing HD clinical management strategies, enabling personalized treatment approaches, and advancing clinical trials of HD-modifying therapies.</p><h2>Other Information</h2><p dir="ltr">Published in: Biology<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://doi.org/10.3390/biology14020129" target="_blank">https://doi.org/10.3390/biology14020129</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_2753d0f21ac8b2b9ab021368f9376171 |
| identifier_str_mv | 10.3390/biology14020129 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/30363793 |
| publishDate | 2025 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive ReviewSarah Aqel (17787809)Jamil Ahmad (327791)Iman Saleh (14152878)Aseela Fathima (21429332)Asmaa A. Al Thani (22045214)Wael M. Y. Mohamed (11978979)Abdullah Shaito (20545181)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesNeurosciencesHealth sciencesEpidemiologyPublic healthHuntington’s diseasebiomarkersrare diseasesneurodegenerative disorderspremanifest HDpreHDneurofilament light chain (NfL)microRNAs (miRNAs)diffusion tensor imaging (DTI)<p dir="ltr">Neurodegenerative disorders (NDs) cause progressive neuronal loss and are a significant public health concern, with NDs projected to become the second leading global cause of death within two decades. Huntington’s disease (HD) is a rare, progressive ND caused by an autosomal-dominant mutation in the huntingtin (<i>HTT</i>) gene, leading to severe neuronal loss in the brain and resulting in debilitating motor, cognitive, and psychiatric symptoms. Given the complex pathology of HD, biomarkers are essential for performing early diagnosis, monitoring disease progression, and evaluating treatment efficacy. However, the identification of consistent HD biomarkers is challenging due to the prolonged premanifest HD stage, HD’s heterogeneous presentation, and its multiple underlying biological pathways. This study involves a 10-year bibliometric analysis of HD biomarker research, revealing key research trends and gaps. The study also features a comprehensive literature review of emerging HD biomarkers, concluding the need for better stratification of HD patients and well-designed longitudinal studies to validate HD biomarkers. Promising candidate wet HD biomarkers— including neurofilament light chain protein (NfL), microRNAs, the mutant HTT protein, and specific metabolic and inflammatory markers— are discussed, with emphasis on their potential utility in the premanifest HD stage. Additionally, biomarkers reflecting brain structural deficits and motor or behavioral impairments, such as neurophysiological (e.g., motor tapping, speech, EEG, and event-related potentials) and imaging (e.g., MRI, PET, and diffusion tensor imaging) biomarkers, are evaluated. The findings underscore that the discovery and validation of reliable HD biomarkers urgently require improved patient stratification and well-designed longitudinal studies. Reliable biomarkers, particularly in the premanifest HD stage, are crucial for optimizing HD clinical management strategies, enabling personalized treatment approaches, and advancing clinical trials of HD-modifying therapies.</p><h2>Other Information</h2><p dir="ltr">Published in: Biology<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://doi.org/10.3390/biology14020129" target="_blank">https://doi.org/10.3390/biology14020129</a></p>2025-01-26T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.3390/biology14020129https://figshare.com/articles/journal_contribution/Advances_in_Huntington_s_Disease_Biomarkers_A_10-Year_Bibliometric_Analysis_and_a_Comprehensive_Review/30363793CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/303637932025-01-26T03:00:00Z |
| spellingShingle | Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review Sarah Aqel (17787809) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences Health sciences Epidemiology Public health Huntington’s disease biomarkers rare diseases neurodegenerative disorders premanifest HD preHD neurofilament light chain (NfL) microRNAs (miRNAs) diffusion tensor imaging (DTI) |
| status_str | publishedVersion |
| title | Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review |
| title_full | Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review |
| title_fullStr | Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review |
| title_full_unstemmed | Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review |
| title_short | Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review |
| title_sort | Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences Health sciences Epidemiology Public health Huntington’s disease biomarkers rare diseases neurodegenerative disorders premanifest HD preHD neurofilament light chain (NfL) microRNAs (miRNAs) diffusion tensor imaging (DTI) |