Huntington's disease

Also called Huntington Chorea, affects men and women. 4 to 10 cases in 100,000 people (frequency between 0.004% and 0.01%) .

Chorea is defined as brief, irregular, unpredictable, purposeless movements that flow from one body part to another without a rhythmic pattern.

HD is a Hyperkinetic Disorder. The symptoms in HD are characterized by

Excessive motor activity

Involuntary movements (dyskinesias)

Decreased muscle tone

Behavioral and emotional alteration and cognitive decline, which may precede motor abnormalities. Importance of cognitive and neuropsychological test to identify the pre-symptomatic carriers of the disease.

HD is a dominant autosomal inherited disease characterized by the expansion of a triplet repeat CAG, that encodes for Glutamine, in the N-terminal domain of the protein

Specific localization of Basal Ganglia in a coronal section

• caudate nucleus

• putamen

• globus pallidus

• substantia nigra

• subthalamic nucleus

Volumetric analysis in Huntington disease (HD)

• HD is caused by selective degeneration of the GABAergic neurons in the striatum, in particular in the caudate

Who is affected by HD?

• > 30,000 symptomatic people with HD in the U.S. with even more at risk for inheriting the disease

• HD affects both men and women equally

• average age of motor symptom onset is between 30 - 50 years old, which correlates with one’s CAG repeat length