Fast Five Quiz: Huntington Disease

Shaheen E. Lakhan, MD, PhD, MS, MEd


May 27, 2020

While no single imaging technique is necessary or sufficient for diagnosis of Huntington disease, measurement of the bicaudate diameter (ie, the distance between the heads of the two caudate nuclei) by CT scan or MRI is a reliable marker of the disease.

Genetic testing is now commercially available for Huntington disease, but it may not be necessary in a patient with a typical clinical picture and a genetically proven family history of the disease. Persons at risk for the disease who request presymptomatic testing should undergo extensive genetic counseling and neurologic and psychiatric evaluation, considering the significant clinical implications of a positive result.

Brain abnormalities seen on PET scanning and proton MR spectroscopy have been reported, but the use of these techniques in clinical practice is limited.

In the absence of a family history, patients with a suggestive clinical presentation should undergo genetic testing to confirm or exclude Huntington disease.

Learn more about Huntington disease workup.


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