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Corea no asociada a la enfermedad de Huntington: un universo en expansión con causas adquiridas

Francisco Cardoso¹, Débora Maia¹, Ricardo Maciel¹

¹Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais, Belo Horizonte 30130-100, Brazil.

Brain : a journal of neurology

|January 30, 2026

Abstract:

Huntington disease (HD) phenocopies are conditions characterized by a phenotype similar to HD but without a pathogenic repeat expansion in the HTT gene. The percentage of patients who have an HD phenotype but subsequently are shown not to carry a repeat expansion ranges from 2% to 40%, depending on the ethnicity and the geographic location of the population studied, as well as the resources available for investigation of the underlying causes. In descending order of frequency, genetic causes are Huntington Disease-like 2/JHP3, spinocerebellar ataxia genes (SCA17/TBP, SCA12/PPP2R2B and SCA3/ATXN3, CACNA1A), and frontotemporal dementia genes (C9orf72, and VCP). In addition, it has been established that a growing list of acquired causes may also mimic HD, including autoimmune illnesses such as primary antiphospholipid syndrome, paraneoplastic chorea, and anti-IGLON5. Here we aim to review the epidemiology, aetiology, clinical and laboratory findings of the wide range of conditions associated with HD phenocopies, and proceed to suggest a practical diagnostic approach to the investigation of HD phenocopies taking into account the age at onset, ethnicity, and geographic location of individuals.

Palabras clave:

enfermedad de Huntington similar a Huntington corea autoinmune corea corea genética fenocopias de la enfermedad de Huntington

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