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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Ruscitti, Federica, Origone, Paola, Rosti, Giulia, Trevisan, Lucia, Marchese, Roberta, Brugnolo, Andrea, Massa, Federico, Castellini, Paola, Mandich, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536496/
https://www.ncbi.nlm.nih.gov/pubmed/36237940
http://dx.doi.org/10.1002/ccr3.6308
_version_ 1784802993683562496
author Ruscitti, Federica
Origone, Paola
Rosti, Giulia
Trevisan, Lucia
Marchese, Roberta
Brugnolo, Andrea
Massa, Federico
Castellini, Paola
Mandich, Paola
author_facet Ruscitti, Federica
Origone, Paola
Rosti, Giulia
Trevisan, Lucia
Marchese, Roberta
Brugnolo, Andrea
Massa, Federico
Castellini, Paola
Mandich, Paola
author_sort Ruscitti, Federica
collection PubMed
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.
format Online
Article
Text
id pubmed-9536496
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-95364962022-10-12 A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era Ruscitti, Federica Origone, Paola Rosti, Giulia Trevisan, Lucia Marchese, Roberta Brugnolo, Andrea Massa, Federico Castellini, Paola Mandich, Paola Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-10-06 /pmc/articles/PMC9536496/ /pubmed/36237940 http://dx.doi.org/10.1002/ccr3.6308 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ruscitti, Federica
Origone, Paola
Rosti, Giulia
Trevisan, Lucia
Marchese, Roberta
Brugnolo, Andrea
Massa, Federico
Castellini, Paola
Mandich, Paola
A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
title A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
title_full A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
title_fullStr A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
title_full_unstemmed A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
title_short A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
title_sort case of huntington disease‐like 2 in a patient of african ancestry: the everlasting support of clinical examination in the molecular era
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536496/
https://www.ncbi.nlm.nih.gov/pubmed/36237940
http://dx.doi.org/10.1002/ccr3.6308
work_keys_str_mv AT ruscittifederica acaseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT origonepaola acaseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT rostigiulia acaseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT trevisanlucia acaseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT marcheseroberta acaseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT brugnoloandrea acaseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT massafederico acaseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT castellinipaola acaseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT mandichpaola acaseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT ruscittifederica caseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT origonepaola caseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT rostigiulia caseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT trevisanlucia caseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT marcheseroberta caseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT brugnoloandrea caseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT massafederico caseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT castellinipaola caseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera
AT mandichpaola caseofhuntingtondiseaselike2inapatientofafricanancestrytheeverlastingsupportofclinicalexaminationinthemolecularera

Ejemplares similares