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

doi:10.1002/ccr3.6308

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

Clin Case Rep. 2022 Oct 6;10(10):e6308. doi: 10.1002/ccr3.6308. eCollection 2022 Oct.

Authors

Federica Ruscitti^{1

2}, Paola Origone^{1

2}, Giulia Rosti^{1

2}, Lucia Trevisan^{1

2}, Roberta Marchese³, Andrea Brugnolo^{1

4}, Federico Massa¹, Paola Castellini⁵, Paola Mandich^{1

2}

Affiliations

¹ Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.
² IRCCS Ospedale Policlinico San Martino, Medical Genetics Unit Genoa Italy.
³ IRCCS Ospedale Policlinico San Martino, Neurological Unit Genoa Italy.
⁴ IRCCS Ospedale Policlinico San Martino, Clinical Psychology Unit Genoa Italy.
⁵ IRCCS Ospedale Policlinico San Martino, Phoniatric Unit Genoa Italy.

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.

Keywords: JPH3; brazilian ancestry; chorea; huntington disease‐like 2.

Publication types

Case Reports