The First Case of Huntington's Disease like 2 in Mali, West Africa.

ABSTRACT:

Background

Huntington's disease like 2 (HDL2) has been reported exclusively in patients with African ancestry, mostly originating from South Africa.

Case report

We report three patients in Mali including a proband and his two children who have been examined by neurologists and psychiatrists after giving consent. They were aged between 28 and 56 years old. Psychiatric symptoms were predominant in the two younger patients while the father presented mainly with motor symptoms. Genetic testing identified a heterozygous 40 CTG repeat expansion in the Junctophilin-3 (JPH3) gene in all three patients.

Discussion

This study supports the hypothesis that HDL2 may be widely spread across Africa.

Highlights

We report here the first case of HDL2 in West Africa, suggesting t

SUBMITTER: Bocoum A 

PROVIDER: S-EPMC11011944 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature