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Article

The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review.

Journal of Huntington's disease - 1 Feb 2026

van Hofslot Anna, Oosterloo Mayke, de Jong Joost J A, Andriessen Ruben L, de Bot Susanne T, Linden David E J

Abstract excerpt

BackgroundHuntington's Disease (HD) is a hereditary neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) repeat expansion (CAG > 35) in the Huntingtin (HTT) gene. Intermediate alleles (IAs, CAG = 27-35) are generally not associated with HD. However, IA carriers with symptoms have been reported in literature.ObjectiveTo review the existing literature on IAs, in order to provide an overview of the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41406155
DOI: 10.1177/18796397251397683
PMCID: PMC12847463

Genes

HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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