Article

Non-HD-Chorea: An Expanding Universe

2024-09-24

Abstract excerpt

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...

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Literature Corpus work: d5e7449d-aad9-5ce2-9e27-a843417a3ed6
DOI: 10.1590/scielopreprints.10079

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