{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T08:23:12Z","timestamp":1742804592092,"version":"3.37.3"},"reference-count":15,"publisher":"FapUNIFESP (SciELO)","issue":"2","license":[{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"abstract":"<jats:p>ABSTRACT Background: Huntington\u2019s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino acids levels behave as potential biomarkers in HD. Methods: Symptomatic and asymptomatic HD carriers and controls were recruited. Age, sex, body mass index (BMI), age of onset, disease duration, UHDRS scores, and expanded CAG tract were obtained; valine, leucine, isoleucine, and free carnitine were measured. Baseline and longitudinal analysis were performed. Results: Seventy-four symptomatic carriers, 20 asymptomatic carriers, and 22 non-carriers were included. At baseline, valine levels were reduced in symptomatic and asymptomatic HD carriers when compared to non-carriers. No difference in free carnitine or isoleucine+leucine levels were observed between groups. BMI of symptomatic individuals was lower than those of non-carriers. Valine levels correlated with BMI. Follow-up evaluation was performed in 43 symptomatic individuals. UHDRS total motor score increased 4.8 points\/year on average. No significant reductions in BMI or valine were observed, whereas free carnitine and isoleucine+leucine levels increased. Conclusions: Although valine levels were lower in HD carriers and were related to BMI losses observed in pre-symptomatic individuals, none of these metabolites seem to be biomarkers for HD.<\/jats:p>","DOI":"10.1590\/0004-282x20190152","type":"journal-article","created":{"date-parts":[[2020,3,9]],"date-time":"2020-03-09T12:53:48Z","timestamp":1583758428000},"page":"81-87","source":"Crossref","is-referenced-by-count":2,"title":["Free carnitine and branched chain amino acids are not good biomarkers in Huntington\u2019s disease"],"prefix":"10.1590","volume":"78","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1905-2084","authenticated-orcid":false,"given":"Raphael Machado","family":"CASTILHOS","sequence":"first","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil; Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina Coutinho","family":"AUGUSTIN","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Augusto dos","family":"SANTOS","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1672-8894","authenticated-orcid":false,"given":"Jos\u00e9 Luiz","family":"PEDROSO","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0107-0831","authenticated-orcid":false,"given":"Orlando","family":"BARSOTTINI","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6556-8145","authenticated-orcid":false,"given":"Roberta","family":"SABA","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3821-1407","authenticated-orcid":false,"given":"Henrique Ballalai","family":"FERRAZ","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando Regla","family":"VARGAS","sequence":"additional","affiliation":[{"name":"Universidade Federal do Estado do Rio de Janeiro,  Brazil; Funda\u00e7\u00e3o Oswaldo Cruz,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7063-4987","authenticated-orcid":false,"given":"Gabriel Vasata","family":"FURTADO","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcia","family":"Polese-BONATTO","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiza Paulsen","family":"RODRIGUES","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucas Schenatto","family":"SENA","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen Regla","family":"VARGAS","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil; Universidade Federal do Rio Grande do Sul,  Brazil; Universidade Federal do Rio Grande do Sul,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3905-9563","authenticated-orcid":false,"given":"Maria Luiza","family":"SARAIVA-PEREIRA","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil; Universidade Federal do Rio Grande do Sul,  Brazil; Universidade Federal do Rio Grande do Sul,  Brazil; Universidade Federal do Rio Grande do Sul,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6907-5068","authenticated-orcid":false,"given":"Laura Bannach","family":"JARDIM","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul,  Brazil; Universidade Federal do Rio Grande do Sul,  Brazil; Universidade Federal do Rio Grande do Sul,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil; Hospital de Cl\u00ednicas de Porto Alegre,  Brazil; Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rede","family":"NEUROGEN\u00c9TICA","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","published-online":{"date-parts":[[2020,2]]},"reference":[{"issue":"6","key":"ref1","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"The Huntington\u2019s Disease Collaborative Research Group. 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