Huntington's Disease

A 48 year-old man presented with progressive psychiatric impairment over several years followed by dementia. Prominent chorea was present on examination. His father had a similar disorder, as did many paternal relatives.


Show the Caudate Nucleus in a Patient with Huntington's                                                   Show the Caudate Nucleus in a Normal Patient

Huntington's Disease (HD): T1-weighted coronal MRI scans - (Left) patient; (Right) normal scan. Note the prominent atrophy of the cortex and caudate nuclei of the patient compared to the normal scan.

HD is a classic neurodegenerative disease with dominant inheritance. It manifests as prominent degeneration of the striatum (caudate and putamen) in addition to involvement of the cortex, brainstem and cerebellum. The genetic basis of HD is a tri-nucleotide repeat (CAG) in the huntington protein. The number of triplet repeats influences the age of onset (the more repeats, the earlier age of onset) and the severity of the disorder. Patients with HD develop movement disorders (most often chorea early in the course), dementia and psychiatric disorders (most often mood disorders).


Revised 11/29/06
Copyrighted 2006. David C Preston