Huntington disease

Huntington disease is a progressive neurodegenerative disorder characterized by uncontrolled movements, dystonia, incoordination, cognitive decline, and behavioral problems. Adult-onset Huntington disease, the most common form of this disorder, usually develops after the 3rd or 4th decade of life.

In rare cases symptoms of the disease appear in childhood or adolescence, this form of Huntington is known as the juvenile form. It also involves movement problems, mental and emotional changes, however the disease tends to progress more quickly than the adult-onset form.

The diagnosis is based in clinical symptoms and is confirmed by molecular analysis.

Huntington disease is caused by an expanded trinucleotide CAG repeat in  ΗΤΤ gene and is inherited in autosomal dominant pattern. More than 36 CAG repeats are pathogenic and are associated to the development of disease. A larger number of repeats is usually associated with an earlier onset of signs and symptoms.

The number of CAG trinucleotide repeats in HTT gene is analysed using PCR and subsequent fragment analysis in a Genetic Analyser.

Sample type: Peripheral blood in EDTA

Time to result: 2 weeks

Prenatal diagnosis for Huntington disease is possible, please contact us for more information.