Open AccessA 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.