Huntington's disease - MedPix® Medical Image Database and Teaching Files

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Disease Topic 1496
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Contributor: Val M. Runge, MD

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Huntington's disease
Factoid 1496 - Created: 2001-03-26 13:33:24-05 - Modified: 2004-04-25 00:17:28-04

ACR Codes: 1.1
Huntington's disease is a progressive neurodegenerative disorder. There is an autosomal dominant mode of inheritance with complete penetrance. Patients usually exhibit clinical manifestations of the disease in the fourth through sixth decades of life. Clinically, the disease is characterized by a movement disorder and progressive dementia. The disease is depicted radiographically by atrophy of the caudate and putamen followed later by cortical atrophy. There is loss of cholinergic and GABA-nergic neurons in the neostriatum. The cortical atrophy is initially noted in the frontal lobes with progressive involvement more posteriorly as the disease advances. The functional and cognitive impairments are related to the degree of cortical atrophy.

While imaging studies are insensitive for detecting the early stages of the disease, metabolic studies with PET have described hypometabolic regions in the caudate preceding any radiographically detectable changes. In general, MR more readily defines the caudate and putamen atrophy than CT. The additional imaging planes available with MR facilitate a better appreciation of the volume loss in the nuclei.

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Location: Brain and Neuro	Sublocation: Basal Ganglia	Category: Congenital, genetic
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Written by: Val M. Runge, MD
Prepared by: Neuroradiology Learning File - © ACR
Affiliation: ACR Learning File® - || -
Approved by: James G. Smirniotopoulos, M.D.
Affiliation: Uniformed Services University - || -

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