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

Creators: Federica Ruscitti; Paola Origone; Giulia Rosti; Lucia Trevisan; Roberta Marchese; Andrea Brugnolo; Federico Massa; Paola Castellini; Paola Mandich

Others:: Ruscitti, Federica; Origone, Paola; Rosti, Giulia; Trevisan, Lucia; Marchese, Roberta; Brugnolo, Andrea; Massa, Federico; Castellini, Paola; Mandich, Paola

Description

: 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

Description

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