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Article

Somatic expansion of the (CAG)n repeat in Huntington disease brains.

Human genetics - 1 Mar 1995

De Rooij K E, De Koning Gans P A, Roos R A, Van Ommen G J, Den Dunnen J T

Abstract excerpt

The mutation causing Huntington disease (HD) has been identified as an expansion of a polymorphic (CAG)n repeat in the 5' part of the huntingtin gene. The specific neuropathology of HD, viz. selective neuronal loss in the caudate nucleus and putamen, cannot be explained by the widespread expression of the gene. Since somatic expansion is observed in affected tissue in myotonic dystrophy, we have studied the...

Topics

Aged
Aged, 80 and over
Brain
Brain Chemistry
DNA
Female
Humans
Huntington Disease
Male
Middle Aged
Nerve Degeneration
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 7868117
DOI: 10.1007/BF00225192

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7868117-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Somatic expansion of the (CAG)n repeat in Huntington disease brains.PMID 7868117Read ↗

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