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

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

Open Access

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

Author(s) -

Ruscitti Federica,

Origone Paola,

Rosti Giulia,

Trevisan Lucia,

Marchese Roberta,

Brugnolo Andrea,

Massa Federico,

Castellini Paola,

Mandich Paola

Publication year - 2022

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.6308

Subject(s) - phenocopy , chorea , medicine , disease , huntington's disease , psychiatry , cognitive decline , cognition , pediatrics , dementia , pathology , genetics , biology , gene , mutant

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research