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Article

Genetically confirmed clinical Huntington's disease with no observable cell loss.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2003

Caramins M, Halliday G, McCusker E, Trent R J

Abstract excerpt

Huntington's disease (HD) results from neurodegeneration of the neostriatum. The mutation on chromosome 4 is an expansion in a triplet repeat (CAG)(n) located within the IT15 gene. Only six patients have been reported with clinical features of HD in association with limited neuropathology. Of these, only one has had the diagnosis confirmed by genetic (DNA) testing. We describe a patient with the clinical...

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Identifiers

PMID: 12810795
DOI: 10.1136/jnnp.74.7.968
PMCID: PMC1738566

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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