Thirty-five years ago this month, legendary American folk singer Woody Guthrie died at age 55. Misdiagnosed for years, labeled an alcoholic and hospitalized in mental institutions, Guthrie actually suffered from Huntington's disease for 15 years prior to his death.
Although researchers identified in 1993 the gene that causes this devastating disorder, there is still no cure. There is hope, however, as genetic testing is available for family members of Huntington's patients, and a handful of specialized clinics in the U.S. offer treatment and research.
One of these is the UCSD Huntington's Disease Clinic, which was recently designated a Center of Excellence by the Huntington's Disease Society of America (HDSA). UCSD was one of the first centers west of the Mississippi to receive this designation for its treatment and research center.
A fatal, degenerative brain disorder that primarily strikes men and women between the ages of 30 and 45, Huntington's disease causes involuntary movements, severe emotional disturbance, and cognitive decline. As their bodies and minds deteriorate, affected individuals die from complications such as choking, infection, or heart failure.
"The personal stories of our patients and family members are so touching," said Jody Corey-Bloom, M.D., Ph.D., director of the HDSA Center of Excellence's UCSD Huntington's Disease Clinic and a UCSD professor of neurosciences. "People in the prime of their lives are disabled. And, because the disease causes mood disturbances, speech disorders and involuntary body movements, patients and family members are often afraid to go out in public."
Affecting as many people as hemophilia, cystic fibrosis or muscular dystrophy, Huntington's disease has been diagnosed in 30,000 Americans; with another 150,000 at risk because family members have a 50 percent chance of inheriting Huntington's from an affected parent. In San Diego, 278 individuals have been identified with Huntington's disease and 1,521 are considered at risk, said Corey-Bloom, adding that the UCSD Huntington's Disease Clinic has seen a significant number of San Diego's patients.
The Clinic offers genetic testing and counseling; diagnosis; medication for movement disorders; cognitive and psychiatric evaluation and treatment; physical, occupational and speech therapy; caregiver and social services; and nutritional counseling.
Although there is currently no treatment for Huntington's disease, Clinic physicians provide medication for the movement disorder and standard antidepressants for cognitive problems. Some patients take anti-oxidants such as Coenzyme Q but there is no data to support its use, Corey-Bloom said.
Members of the UCSD Huntington's Disease program also conduct research to better understand and find new treatments for Huntington's disease. For more than 15 years, UCSD has been one of the leading centers for research on the neuropsychology of the disease. Originally led by the late Nelson Butters, M.D., investigators at UCSD have contributed important findings on the effects of Huntington's disease on memory, language, learning, and attention.
"A specific interest of mine is developing a better understanding of how the cognitive and behavioral problems, such as impaired judgment and depression, impact patients," said Corey-Bloom.
UCSD studies of the cognitive deficits associated with Huntington's disease have, for the most part, taken a comparative approach in which the neuropsychological test performances of Huntington's patients are compared and contrasted with Alzheimer's patients. In addition to the insights provided for both conditions, the comparison studies have been clinically useful for differentiating between the two disorders in early diagnosis.
A study currently in progress at UCSD examines attention in both symptomatic and asymptomatic Huntington's disease gene-carriers. Researchers hope to identify the temporal sequence of cognitive and behavioral changes associated with specific anatomical brain structures.
"Our findings could have significant implications for treatment interventions and for understanding the interface between overt symptoms and neuropathological changes associated with Huntington's disease," Corey-Bloom noted.
UCSD's neuroimaging research on Huntington's disease has focused on both structural and functional MRI approaches. A current study uses functional MRI to investigate the structure and function of certain brain circuits in subjects who are asymptomatic but genetically at risk for Huntington's disease. Another study looks at complex motor function in conjunction with related behavioral reaction time in both healthy and Huntington disease subjects.
A UCSD autopsy program currently has 23 brains of Huntington's disease patients that are being analyzed for neuropathologic correlates of the disease, in hopes of contributing to an understanding the disease pathogenesis.
A member of the Huntington's Study Group (HSG), a non-profit group of physicians and researchers in the U.S., Canada, Europe and Australia, UCSD has participated in various HSG research studies over the years, including the current Prospective Huntington At Risk Observational Study (PHAROS).
"In PHAROS, we're looking at genetic correlates of the earliest clinical features of the disease," Corey-Bloom said. "We're asking such questions as: Do those at risk get the disease earlier than their parents did? Is it more severe? Is there any correlation between the number of CAG repeats and the subsequent development of various psychiatric or motor features?"
A current clinical trial at UCSD, headed by Guerry Peavy, M.D., investigates the use of a Chinese herb called huperzine A on cognitive function in Huntington's disease. Corey-Bloom noted that huperzine A is a cholinesterase inhibitor similar to Aracept, which is given to Alzheimer's patients.
For more information about the UCSD Huntington's Disease Clinic and/or clinical trials, call Shirley Fenner, R.N. at (858) 622-5800.