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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.
Afiliação
  • Ruscitti F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.
  • Origone P; IRCCS Ospedale Policlinico San Martino, Medical Genetics Unit Genoa Italy.
  • Rosti G; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.
  • Trevisan L; IRCCS Ospedale Policlinico San Martino, Medical Genetics Unit Genoa Italy.
  • Marchese R; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.
  • Brugnolo A; IRCCS Ospedale Policlinico San Martino, Medical Genetics Unit Genoa Italy.
  • Massa F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.
  • Castellini P; IRCCS Ospedale Policlinico San Martino, Medical Genetics Unit Genoa Italy.
  • Mandich P; IRCCS Ospedale Policlinico San Martino, Neurological Unit Genoa Italy.
Clin Case Rep ; 10(10): e6308, 2022 Oct.
Article em En | MEDLINE | ID: mdl-36237940
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article