{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T22:26:46Z","timestamp":1789165606576,"version":"build-2803163510"},"reference-count":256,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,1,26]],"date-time":"2025-01-26T00:00:00Z","timestamp":1737849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Qatar University","award":["QUCG-BRC-23\/24-125"],"award-info":[{"award-number":["QUCG-BRC-23\/24-125"]}]},{"name":"Qatar National Library (QNL)","award":["QUCG-BRC-23\/24-125"],"award-info":[{"award-number":["QUCG-BRC-23\/24-125"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>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\u2019s disease (HD) is a rare, progressive ND caused by an autosomal-dominant mutation in the huntingtin (HTT) 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\u2019s 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\u2014 including neurofilament light chain protein (NfL), microRNAs, the mutant HTT protein, and specific metabolic and inflammatory markers\u2014 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.<\/jats:p>","DOI":"10.3390\/biology14020129","type":"journal-article","created":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T03:54:27Z","timestamp":1737950067000},"page":"129","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Advances in Huntington\u2019s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4590-509X","authenticated-orcid":false,"given":"Sarah","family":"Aqel","sequence":"first","affiliation":[{"name":"Medical Research Center, Hamad Medical Corporation, Doha P.O. Box 3050, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamil","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Medical Education, Hamad Medical Corporation, Doha P.O. Box 3050, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iman","family":"Saleh","sequence":"additional","affiliation":[{"name":"Biological Science Program, Department of Biological and Environmental Sciences, College of Art and Science, Qatar University, Doha P.O. Box 2713, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aseela","family":"Fathima","sequence":"additional","affiliation":[{"name":"Biomedical Research Center (BRC), QU Health Sector, Qatar University, Doha P.O. Box 2713, Qatar"},{"name":"Department of Biomedical Sciences, College of Health Sciences, QU Health Sector, Qatar University, Doha P.O. Box 2713, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asmaa A.","family":"Al Thani","sequence":"additional","affiliation":[{"name":"Biomedical Research Center (BRC), QU Health Sector, Qatar University, Doha P.O. Box 2713, Qatar"},{"name":"Department of Biomedical Sciences, College of Health Sciences, QU Health Sector, Qatar University, Doha P.O. Box 2713, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1317-0829","authenticated-orcid":false,"given":"Wael M. Y.","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Department of Basic Medical Sciences, Kulliyyah of Medicine, International Islamic University Malaysia (IIUM), Kuantan 50728, Malaysia"},{"name":"Clinical Pharmacology Department, Menoufia Medical School, Menoufia University, Shebin El-Kom 32511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3524-7962","authenticated-orcid":false,"given":"Abdullah A.","family":"Shaito","sequence":"additional","affiliation":[{"name":"Biomedical Research Center (BRC), QU Health Sector, Qatar University, Doha P.O. Box 2713, Qatar"},{"name":"Department of Biomedical Sciences, College of Health Sciences, QU Health Sector, Qatar University, Doha P.O. Box 2713, Qatar"},{"name":"College of Medicine, QU Health Sector, Qatar University, Doha P.O. Box 2713, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1136\/practneurol-2021-003074","article-title":"Huntington\u2019s disease: Diagnosis and management","volume":"22","author":"Stoker","year":"2022","journal-title":"Pract. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Daldin, M., Fodale, V., Cariulo, C., Azzollini, L., Verani, M., Martufi, P., Spiezia, M.C., Deguire, S.M., Cherubini, M., and Macdonald, D. (2017). Polyglutamine expansion affects huntingtin conformation in multiple Huntington\u2019s disease models. Sci. 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