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Article

Juvenile onset Huntington disease resulting from a very large maternal expansion.

American journal of medical genetics. Part A - 1 Sept 2005

Nahhas F A, Garbern J, Krajewski K M, Roa B B, Feldman G L

Abstract excerpt

We report a 5(1/2)-year-old girl with a maternal family history of Huntington disease (HD), who presented clinically with unbalanced gait, impaired speech, and increasing difficulty with fine motor control. Onset of symptoms began at the age of 3(1/2) years. The suspected diagnosis of juvenile HD, based upon her family history, was confirmed by DNA analysis. At age 7, the patient died secondary to complications...

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Identifiers

PMID: 16096998
DOI: 10.1002/ajmg.a.30891

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

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