{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T05:14:09Z","timestamp":1792818849716,"version":"4.5.0"},"reference-count":27,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T00:00:00Z","timestamp":1729814400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Universidad de las Am\u00e9ricas (UDLA)","award":["MED.JLR.23.01"],"award-info":[{"award-number":["MED.JLR.23.01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Huntington\u2019s disease (HD) is a fully penetrant neurodegenerative disease with a profound effect on quality of life. In recent years, there has been rapid growth in the description of its pathogenesis and diagnosis. Magnetic resonance spectroscopy (MRS) measurements can aid in the discrimination between premanifest Huntington\u2019s disease (Pre-HD) and healthy control (HC) subjects to establish early supportive and symptomatic management. Our objective was to evaluate metabolic changes using MRS to shed light on its potential as a biomarker through a systematic review. Methods: We followed the PRISMA guidelines, extracting articles from PubMed, Scopus, and the Virtual Health Library. We included patients with pre-HD, HD, and HC subjected to MRS, reporting the concentration of metabolites in at least one brain region. Results: In the putamen, N-acetyl Aspartate (NAA) was significantly decreased in 77.9% and total NAA (tNAA) was decreased in 72.4% of cases; no significant difference was found in 27.5% (n = 19) of cases. Furthermore, when looking into HD vs. pre-HD in the putamen, tNAA and NAA were decreased in 100% of participants. In the caudate nucleus, NAA and creatine were significantly decreased in 100% of HD in comparison to pre-HD participants, whereas tNAA showed a significant decrease in only 50%. Conclusions: MRS can be a relevant tool for the early diagnosis of HD; potential objective biomarkers related to its onset and pathogenesis exist and show differences between controls, pre-HD and HD patients. However, an effort should be made to standardize MRS methodology and reporting in subsequent studies.<\/jats:p>","DOI":"10.3390\/jcm13216390","type":"journal-article","created":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T08:42:13Z","timestamp":1729845733000},"page":"6390","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Early Diagnosis of Huntington Disease: Insights from Magnetic Resonance Spectroscopy\u2014A Systematic Review"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-5179-8392","authenticated-orcid":false,"given":"Pablo S.","family":"Mart\u00ednez Lozada","sequence":"first","affiliation":[{"name":"NeurALL Research Group, Quito 170157, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Duque Perez","sequence":"additional","affiliation":[{"name":"NeurALL Research Group, Quito 170157, Ecuador"},{"name":"Medical School, Universidad de las Am\u00e9ricas (UDLA), Quito 170124, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronney","family":"Celi Salinas","sequence":"additional","affiliation":[{"name":"NeurALL Research Group, Quito 170157, Ecuador"},{"name":"Medignosis, Research Department, Quito 170157, Ecuador"},{"name":"Christus Muguerza Hospital Alta Especialidad, Monterrey 64060, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan","family":"Miranda Morales","sequence":"additional","affiliation":[{"name":"NeurALL Research Group, Quito 170157, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5402-8119","authenticated-orcid":false,"given":"Juan Francisco","family":"Pazmi\u00f1o Mes\u00edas","sequence":"additional","affiliation":[{"name":"NeurALL Research Group, Quito 170157, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia Alejandra","family":"Garc\u00eda R\u00edos","sequence":"additional","affiliation":[{"name":"Facultad Ciencias de la Salud, Universidad Nacional de Chimborazo, Riobamba 060108, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8217-0238","authenticated-orcid":false,"given":"Jose A.","family":"Rodas","sequence":"additional","affiliation":[{"name":"School of Psychology, University College Dublin, D04 V1W8 Dublin, Ireland"},{"name":"Escuela de Psicolog\u00eda, Universidad Esp\u00edritu Santo, Samborond\u00f3n 092301, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose E.","family":"Leon-Rojas","sequence":"additional","affiliation":[{"name":"Medical School, Universidad de las Am\u00e9ricas (UDLA), Quito 170124, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,25]]},"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. 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