A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.

ABSTRACT: Chorea, cognitive decline, and psychiatric symptoms are shared by Huntington's disease (HD) and similar conditions called HD phenocopies. We describe the first case reported in Italy of Huntington disease-like 2 (HDL2), clinically and radiologically indistinguishable from HD, showing the importance of considering African ancestry in the diagnostic process.

SUBMITTER: Ruscitti F 

PROVIDER: S-EPMC9536496 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature