preprint
The main aim of this article is to provide a practical diagnostic approach to phenocopies of Huntington disease (HD). These are defined as conditions characterized by a phenotype similar to HD but with no pathogenic repeat expansion in the HTT gene. Their frequency ranges from 2% to 40% depending on ethnicity and geographic location. The most frequent genetic causes are Huntington Disease-like 2/JHP3, followed by spinocerebellar ataxia genes (SCA17/TBP, SCA12/PPP2R2B and SCA3/ATXN3, CACNA1A), and frontotemporal dementia genes (C9orf72, and VCP). There is current recognition that a growing number of acquired causes can mimic HD. Autoimmune causes such as primary antiphospholipid syndrome, paraneoplastic chorea, and anti-IGLON5 antibodies, as well as stroke, and diabetes mellitus type 2 complications are the leading acquired causes of HD phenocopies. Finally, we provide practical recommendations on how to approach HD phenocopies considering age at onset, ethnicity, and geographic location of individuals.
This page summarises published work. The authoritative version sits with the publisher.
DOI: 10.1590/scielopreprints.10079
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