Huntington disease without CAG expansion: phenocopies or errors in assignment?

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Article

Huntington disease without CAG expansion: phenocopies or errors in assignment?

American journal of human genetics - 1 May 1994

Andrew S E, Goldberg Y P, Kremer B, Squitieri F, Theilmann J, Zeisler J, Telenius H, Adam S, Almquist E, Anvret M

Abstract excerpt

Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 (IT15). A total of 30 of 1,022 affected persons (2.9% of our cohort) did not have an expanded CAG in the disease range. The reasons for not observing expansion in affected individuals are important for determining the sensitivity of using repeat length both for diagnosis of affected patients and for...

Topics

Adult
Aged
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 4
Cohort Studies
DNA
Diagnostic Errors
Family
Female
Humans
Huntington Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leukocytes

Male

Middle Aged

Mutation

Pedigree

Phenotype

Source

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Identifiers

PMID: 8178825
PMCID: PMC1918249

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8178825-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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