HDSA Huntington’s Disease Center of Excellence at UF Health
About Huntington Disease
Huntington’s disease (HD) was first described by Dr. George Huntington in 1872 as a progressive neurological disorder that is characterized by the development of chorea, or involuntary “dance-like” movements, that are frequently associated with behavioral, psychiatric, and cognitive problems. The symptoms of HD are progressive, resulting in deterioration of both physical, emotional, and mental abilities, and is eventually fatal. Symptoms typically develop between the ages 30 and 50, but may occur later or even earlier in childhood (juvenile HD). They include personality changes such as mood swings, irritability, and depression; difficulty thinking, problem solving, and poor judgement; unsteady gait and involuntary movements (chorea and dystonia); and slurred speech and swallow difficulty resulting in weight loss. Juvenile onset HD may present differently than the adult form and include stiffness, slowed or awkward movements, clumsiness, falls, and speech issues. Thinking and emotional changes occur too and often lead to decline in school performance. Symptoms in juvenile HD tend to progress more quickly than in the adult-onset form.
HD is a rare autosomal dominantly inherited disorder, meaning that affected individuals have a 50/50 chance of passing on the disease to their offspring. In HD it takes only one copy of the altered gene to develop the disease. In 1983 the gene for HD was found and localized to chromosome 4, but it was not until 1993 that the HTT gene (also known as “interesting transcript 15” or IT15), which codes for the protein Huntingtin, and the specific causal mutation were identified. HD is caused by a mutation in the HTT gene characterized by a triplet DNA (deoxyribonucleic acid) nucleotide expansion, CAG, which encodes the amino acid glutamine. The result is a “polyglutamine” expansion in the Huntingtin protein that leads to abnormal protein deposition, dysfunction, and neuronal loss in the brain. Despite the fact the gene mutation and associated protein are known, we still do not know how mutant Huntingtin causes disease. To date there is no cure for HD, but research is ongoing and novel treatments are actively being developed.
Persons afflicted with HD have a 50% chance of passing on the affected gene to their children. If a child inherits the affected gene, he or she will develop the disease at some point in their life. If the affected gene is not inherited, then there is no risk for developing HD or passing on the gene to successive generations. The availability of a gene test for HD allows for physicians to tests subjects at risk, many years before they develop the disease. However, the fact that this is possible does not mean that everyone at risk should be tested. Choosing whether to have the gene test can be difficult and should be coordinated by a team specialized in HD care.
Huntington’s Disease Care at UF Health
The Huntington’s Disease Society of America (HDSA) has designated the UF Huntington’s Disease Clinic a Center of Excellence, one of 39 centers across the country. Our Center provides services to HD patients and families in Florida and surrounding regions. At the UF Health Center for Movement Disorders & Neurorestoration the HD Clinic includes a specialized, multidisciplinary team of medical professionals, under the direction of Dr. Nikolaus McFarland. Our HD team includes neurology, psychiatry, neuropsychology, neurogenetics counselor, physical and occupational therapy, speech and swallowing therapy, and social work, as well as multiple researchers committed to providing patients with Huntington’s disease the best interdisciplinary medical care and access to the latest clinical research and experimental therapeutics.
For an Appointment
Request an Appointment Online or call 352-294-5400 for more information.
Director: Nikolaus McFarland, MD, PhD
Clinic Coordinator: Melissa Himes
Therapy Services: Lisa Warren, MHS, OTR/L
Social Worker: Frances Rivera, MA
Links for more information
Huntington Disease Society of America – http://hdsa.org/
HDSA Educational Booklets – http://hdsa.org/shop/publications/
NINDS Information Page – http://www.ninds.nih.gov/disorders/huntington/huntington.htm