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Clinical and Genetic Aspects of Huntington’s Disease in the Malian Population

Authors :
Abdoulaye, Bocoum
Toumany, Coulibaly
Madani, Ouologuem
Lassana, Cissé
Seybou H, Diallo
Boubacar B, Maiga
Kékouta, Dembélé
Salimata, Diallo
Souleymane Dit Papa, Coulibaly
Fousseyni, Kané
Thomas, Coulibaly
Dramane, Coulibaly
Abdoulaye, Taméga
Abdoulaye, Yalcouyé
Salimata, Diarra
Mohamed E, Dembélé
Alassane B, Maiga
Cheick A K, Cissé
Oumou, Traoré
Kenneth H, Fischbeck
Cheick O, Guinto
Youssoufa, Maiga
Guida, Landouré
Source :
Journal of Huntington's Disease. 11:195-201
Publication Year :
2022
Publisher :
IOS Press, 2022.

Abstract

Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the HTT 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. Objective: To describe the clinical and genetic aspects of HD in the Malian population. Methods: 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’s 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 HTT sequencing. Results: 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 HTT CAG repeat was 43.6±11.5 (39–56) CAGs. The mean age at onset was 43.1±9.7years. Choreic movements were the predominant symptoms (100% of the cases) with an average TMS of 49.4±30.8, followed by cognitive impairment (average MMSE score: 23.0±12.0) and psychiatric symptoms with 22.2% and 44.4%, respectively. Conclusion: 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.

Details

ISSN :
18796400 and 18796397
Volume :
11
Database :
OpenAIRE
Journal :
Journal of Huntington's Disease
Accession number :
edsair.doi.dedup.....25a93946c0da89ba8ee564abeb982a89
Full Text :
https://doi.org/10.3233/jhd-220529