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

Clinical Case Reports (Oct 2022)

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

Affiliations

Federica Ruscitti: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy
Paola Origone: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy
Giulia Rosti: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy
Lucia Trevisan: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy
Roberta Marchese: IRCCS Ospedale Policlinico San Martino, Neurological Unit Genoa Italy
Andrea Brugnolo: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy
Federico Massa: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy
Paola Castellini: IRCCS Ospedale Policlinico San Martino, Phoniatric Unit Genoa Italy
Paola Mandich: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy

DOI: https://doi.org/10.1002/ccr3.6308
Journal volume & issue: Vol. 10, no. 10
pp. n/a – n/a

Abstract

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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.

Published in Clinical Case Reports

ISSN: 2050-0904 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: https://onlinelibrary.wiley.com/journal/20500904

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Abstract

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