{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:41:46Z","timestamp":1790779306493,"version":"4.1.0"},"reference-count":24,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T00:00:00Z","timestamp":1647302400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Huntington's Disease"],"published-print":{"date-parts":[[2022,4,18]]},"abstract":"<jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Huntington\u2019s disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the\n                      <jats:italic toggle=\"yes\">HTT<\/jats:italic>\n                      gene and characterized by involuntary movements as well as cognitive and behavioral impairment. Since its first description 150 years ago, studies have been reported worldwide. However, genetically confirmed cases have been scarce in Africa.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To describe the clinical and genetic aspects of HD in the Malian population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      Patients with HD phenotype and their relatives were enrolled after obtaining consent. Symptoms were assessed using the Total Motor Scale (TMS) of the United Huntington\u2019s Disease Rating Scale (UHDRS) and the Mini-Mental State Examination (MMSE). Brain imaging and blood tests were performed to exclude other causes. DNA was extracted for\n                      <jats:italic toggle=\"yes\">HTT<\/jats:italic>\n                      sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Eighteen patients (13 families) with a HD phenotype were evaluated. A familial history of the disease was found in 84.6% with 55.5% of maternal transmission. The average length of the\n                      <jats:italic toggle=\"yes\">HTT<\/jats:italic>\n                      CAG repeat was 43.6\u00b111.5 (39\u201356) CAGs. The mean age at onset was 43.1\u00b19.7years. Choreic movements were the predominant symptoms (100% of the cases) with an average TMS of 49.4\u00b130.8, followed by cognitive impairment (average MMSE score: 23.0\u00b112.0) and psychiatric symptoms with 22.2% and 44.4%, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>This is one of the largest HD cohorts reported in Africa. Increasing access to genetic testing could uncover many other HD cases and disease-modifying genetic variants. Future haplotype and psychosocial studies may inform the origin of the Malian mutation and the impact of the disease on patients and their relatives.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jhd-220529","type":"journal-article","created":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T12:16:54Z","timestamp":1647346614000},"page":"195-201","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Clinical and Genetic Aspects of Huntington\u2019s Disease in the Malian Population"],"prefix":"10.1177","volume":"11","author":[{"given":"Abdoulaye","family":"Bocoum","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB, Bamako, Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toumany","family":"Coulibaly","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHU du Point \u201cG\u201d, Bamako, Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madani","family":"Ouologuem","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine, H\u00f4pital du Mali, Bamako, Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lassana","family":"Ciss\u00e9","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHU du Point \u201cG\u201d, Bamako, Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seybou H.","family":"Diallo","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB, Bamako, Mali"},{"name":"Service de Neurologie, CHU de Gabriel Tour\u00e9, Bamako, Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boubacar B.","family":"Maiga","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHU du Point \u201cG\u201d, Bamako, Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e9kouta","family":"Demb\u00e9l\u00e9","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHU du Point \u201cG\u201d, Bamako, Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salimata","family":"Diallo","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHU de Gabriel Tour\u00e9, Bamako, Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Souleymane dit Papa","family":"Coulibaly","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB, Bamako, Mali"},{"name":"Service de Psychiatrie, CHU du Point \u201cG\u201d, Bamako, Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fousseyni","family":"Kan\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB, Bamako, 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