: 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.
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
Federica Ruscitti;Paola Origone;Giulia Rosti;Lucia Trevisan;Roberta Marchese;Andrea Brugnolo;Federico Massa;Paola Castellini;Paola Mandich
2022-01-01
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.
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