Huntington's Disease

Huntington’s disease is a inherited progressive brain disorder caused by a single defective gene on chromosome 4, one of the 23 human chromosomes that carry a person’s entire genetic code.

This defect is “dominant“ meaning that anyone who inherits it from a parent with Huntington’s will eventually develop the disease. The disorder is named after George Huntington, the physician who first described it in the late 1800s.

The defective gene codes the blueprint for a protein called huntingtin. This protein’s normal function isn’t yet known, but it’s called “huntingtin“ because scientists identified its defective form as the cause of Huntington’s disease.

Defective huntingtin protein leads to brain changes that cause abnormal involuntary movements, a severe decline in thinking and reasoning skills, and irritability, depression and other mood changes.