{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T21:23:33Z","timestamp":1773782613774,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:00:00Z","timestamp":1760140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:00:00Z","timestamp":1760140800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Huntington's Disease\u2010like 2 (HDL2), caused by a CAG repeat expansion in\n                      <jats:italic>JPH3<\/jats:italic>\n                      , closely resembles HD. All reported HDL2 patients to date have some African ancestry. While both disorders exist in the Caribbean, their relative frequency and clinical characteristics remain largely unknown.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To characterize HD and HDL2 patients in Martinique.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively analyzed all HD and HDL2 patients evaluated over 20\u2009years at a single neurology center in Martinique, collecting longitudinal clinical features, UHDRS scores, and repeat lengths.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In Martinique, combined HD and HDL2 minimum prevalence was 7.77\/100,000. We ascertained 24 HD individuals, from 16 pedigrees, and 18 HDL2 individuals, from two pedigrees, one being the most extensive HDL2 pedigree yet reported. Because most HDL2 patients belong to a single large pedigree, the data must be interpreted with caution as familial clustering may introduce bias. HDL2 cases were predominantly male (83% vs. 45% in HD). Motor symptoms were the most frequent initial manifestation in both. Repeat length negatively correlated with estimated onset age in both diseases. Longitudinal motor (UHDRS\u2010TMS) and functional capacity (UHDRS\u2010TFC) scores in HDL2 revealed progressive worsening similar to HD. Inter\u2010 and intra\u2010familial clinical and genetic heterogeneity was obvious in both diseases. Anticipation was not exclusively reserved to paternal transmissions in HDL2.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>HDL2 is nearly as prevalent as HD in Martinique. The study reinforces the similarities between HD and HDL2 in genotype\u2013phenotype correlation and disease course, while highlighting heterogeneity and germline instability in HDL2. Interpretation is limited by the small number of HDL2 families.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70379","type":"journal-article","created":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:56:23Z","timestamp":1760176583000},"page":"673-682","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Huntington's Disease and Huntington's Disease\u2010like 2 (\n                    <scp>HDL2<\/scp>\n                    ) in Martinique"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-7458-5900","authenticated-orcid":false,"given":"Ignacio","family":"Antolin\u2010Sanfeliz","sequence":"first","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Carib\u00e9en des Maladies Neuromusculaires Rares, CHU de Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2260-2021","authenticated-orcid":false,"given":"Anna\u2010Gaelle","family":"Giguet\u2010Valard","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Carib\u00e9en des Maladies Neuromusculaires Rares, CHU de Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Duclos","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Carib\u00e9en des Maladies Neuromusculaires Rares, CHU de Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5195-9348","authenticated-orcid":false,"given":"C\u00e9cile","family":"Cazeneuve","sequence":"additional","affiliation":[{"name":"UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pitaux Universitaires Piti\u00e9\u2010Salp\u00eatri\u00e8re, Assistance Publique\u2014H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5825-5319","authenticated-orcid":false,"given":"Chlo\u00e9","family":"Angelini","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares \u201cMaladie De Huntington Et Autres Chor\u00e9es\u201d and Centre de r\u00e9f\u00e9rence maladies rares \u201cNeurog\u00e9n\u00e9tique\u201d, Service de G\u00e9n\u00e9tique M\u00e9dicale, Bordeaux University Hospital (CHU Bordeaux) and Univ. Bordeaux, CNRS, INCIA, UMR 5287, EPHE  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7857-386X","authenticated-orcid":false,"given":"A\u00efssatou","family":"Signat\u00e9","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Carib\u00e9en des Maladies Neuromusculaires Rares, CHU de Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3024-8595","authenticated-orcid":false,"given":"Russell L.","family":"Margolis","sequence":"additional","affiliation":[{"name":"Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, and Department of Neurology John Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1913-889X","authenticated-orcid":false,"given":"Cyril","family":"Goizet","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares \u201cMaladie De Huntington Et Autres Chor\u00e9es\u201d and Centre de r\u00e9f\u00e9rence maladies rares \u201cNeurog\u00e9n\u00e9tique\u201d, Service de G\u00e9n\u00e9tique M\u00e9dicale, Bordeaux University Hospital (CHU Bordeaux) and Univ. Bordeaux, CNRS, INCIA, UMR 5287, EPHE  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6093-0838","authenticated-orcid":false,"given":"R\u00e9mi","family":"Bellance","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Carib\u00e9en des Maladies Neuromusculaires Rares, CHU de Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13413"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.5"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3282f12074"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1124"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng760"},{"key":"e_1_2_10_8_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Anderson DG","year":"2019"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-023-00906-y"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12742"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3233\/JHD-200422"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e31816b4aee"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jproteome.6b00448"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1051\/medsci\/201531s313"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg155"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870110204"},{"key":"e_1_2_10_17_1","article-title":"En 2022, la Martinique devient la r\u00e9gion la plus \u00e2g\u00e9e de France","volume":"189","author":"Taupe G","year":"2023","journal-title":"Insee Flash Martinique"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000444020"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29228"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000526260"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22223"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12283"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.111"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.3233\/JHD-160232"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32332"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2018.05.021"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10587"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.01.008"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.3988\/jcn.2022.18.1.87"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2016.11.050"},{"key":"e_1_2_10_31_1","doi-asserted-by":"crossref","unstructured":"BoaretoM YamamotoY LongJD SampaioC McColganP DiackC et al.Modeling disease progression and placebo response in Huntington's disease: insights from Enroll\u2010HD and GENERATION HD1 cohorts. medRxiv; 2024 2024.02.15.24302445.","DOI":"10.1101\/2024.02.15.24302445"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13178"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2012.09.012"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30992"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318249f683"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21417"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70379","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.70379","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70379","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T17:52:10Z","timestamp":1773769930000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,11]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1002\/mdc3.70379"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70379","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,11]]},"assertion":[{"value":"2025-03-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}