Brain Diseases
Huntington’s Disease
Back to Brain DiseasesWhat Is Huntington’s Disease?
Huntington’s disease is a progressive neurodegenerative disorder that changes brain functioning over time. It is an inherited brain disorder caused by a defective gene on a section of chromosome 4, which results in the breakdown of nerve cells in the brain. Huntington’s disease impacts movement, emotional regulation, and thinking skills.
Huntington’s disease (HD) is also sometimes called Huntington’s chorea. Chorea is a medical term for the involuntary movements that are a main symptom of this disease. This rare disorder’s symptoms typically first appear when a person is 30 to 50 years of age. Huntington’s disease is progressive, meaning its symptoms worsen over time, and it is ultimately fatal.
50%
chance of a parent passing the affected gene onto their children
1 in 10,000
estimated prevalence of Huntington’s disease in the United States
30-50 years old
typical age range during which noticeable symptoms begin
Risk Factors
Huntington’s disease can affect people without a family history of the disease, but as it has a strong genetic component, this is rare. Parents with the disease have a 1 in 2 chance of passing it on to their children.
Huntington’s disease involves a mutation of the HTT gene. This gene is tasked with producing a protein called huntingtin. The exact function of this protein is not yet known, but researchers believe it plays a role in supporting the function of nerve cells in the brain.
This mutation causes DNA building blocks to be repeated in a segment of the affected gene. These repetitions create an elongated version of the huntingtin protein, fragments of which accumulate in brain cells and impair their ability to function.
Genetic testing can confirm the presence of Huntington’s disease and is typically performed after noticeable symptoms are already present.
Huntington’s Disease Signs and Symptoms
Huntington’s Disease Diagnosis
Huntington’s Disease Treatment Options
Huntington’s Disease Research Efforts
Huntington’s Disease Resources
Mayo Clinic: Huntington’s Disease
NINDS: Huntington’s Disease Fact Sheet
New Huntington’s Disease Research
Neuroinflammation: What Many Brain Diseases Have in Common
How Gene Therapy and Research Is Helping Us Treat Brain Disease
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News and Articles
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