Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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December 23, 2013
Huntington Disease
- Autosomal dominant neurodegenerative disease due to loss of GABAergic neurons of basal ganglia. It is caused by a mutation of the huntington gene, which is located on chromosome 4p16.3.
- Presents with dementia, chorea and psychosis
- Key Diagnostic Features: Huntington disease is characterized by striking atrophy of the neostriatum. CT and MR images demonstrate obvious volume loss of the caudate nucleus and putamen. The volume loss involving the caudate nucleus can be much more easily appreciated than the putamen volume loss, likely due to the easily identified dilatation of the adjacent frontal horns. The neuronal loss progresses in a caudal to rostral direction in both the caudate and putamen, dorsomedially to ventrolaterally in the caudate nucleus, and dorsally to ventrally in the putamen.
- DDx: Wilson disease, Leigh disease
- Rx: None. Medications are prescribed for movement disorders and psychotic symptoms. Supportive therapy.
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