Huntington's Disease Tests, Diagnosis Methods & Tools

A diagnosis of HD depends more on family history as compared to investigative procedures such as Computed Tomography (CT), Magnetic Resonance Imaging (MRI), or Positron Emission Tomography (PET) and is confirmed with genetic testing.

A full family history of a patient suffering from HD is studied carefully followed by other investigative procedures such as computed tomography (CT) or magnetic resonance imaging (MRI) in which the affected areas (caudate and striatum) of the brain shrink as the disease progresses.

“The distance between the two caudate nuclei on MRI brain scans may identify shrinkage of these structures, which is a typical finding in HD.” (12)

Positron Emission Tomography (PET) uses injected tracers like flumazenil or raclopride to test the reduction in dopamine D1 and D2 receptors in the brain regions called ‘basal ganglia’. PET is used only to support the diagnosis and research of HD, since these changes could occur in other brain diseases as well.

The diagnosis can be confirmed by genetic testing for the abnormal huntingtin gene (spelled correctly). However, this test cannot give reliable information on the timing of appearance of symptoms or the progression of the disease. Genetic testing is presently not offered to people below 18 years of age and is questionable since a positive result may prove to be distressing and present a psychological strain that could lead to possible life changing consequences (12).

"A positive result in a child has implications for parents who may not wish to know whether they have the disease" (12).

Conditions & Diseases: Brain & Nervous System

Huntington's Disease

Medical Tests, Diagnosis Methods & Tools