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

doi:10.1002/ajmg.a.30891

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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...

Topics

Alleles
Blotting, Southern
Child
Female
Humans
Huntingtin Protein
Huntington Disease
Male
Mothers
Nerve Tissue Proteins
Nuclear Proteins
Pedigree
Trinucleotide Repeat Expansion
Trinucleotide Repeats

Source

Open in PubMed

Identifiers

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

Provenance

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