Huntington’s disease is unlike any other neurodegenerative disorder. While more common diseases such as Parkinson’s and Alzheimer’s typically manifest when patients are in their 60s and 70s, Huntington’s strikes patients in their 30s and 40s. It progresses faster and has more symptoms, including involuntary dance-like movements called chorea, mood swings and dementia. It’s also hereditary. Parents with the disease have a 50 percent chance of passing it on to their children. There is no cure.
“To effectively manage Huntington’s disease you really need a neurologist, psychiatrist, social worker and geneticist. You can imagine that it’s not easy to get all of that in a one-stop shop,” says Danny Bega, MD, ’14 GME, director of Northwestern Medicine’s new Huntington’s disease clinic.
The multidisciplinary clinic, part of the Parkinson’s Disease and Movement Disorders Center at Feinberg, launched this spring to be that one-stop shop, a place where patients can receive comprehensive care to manage their symptoms and improve their quality of life.
“Symptom onset begins at that peak time when people are starting their family, hitting their stride at work,” says Bega, who is a movement disorders neurologist and an assistant professor in the Ken and Ruth Davee Department of Neurology. “It’s not easy for patients—or their families—to deal with.”
There are an estimated 30,000 patients with Huntington’s disease in the United States. Statistically, that works out to nearly 1,000 patients in the Chicagoland area alone. Though Dr. Bega and his colleagues don’t have a cure for the disease yet, they can help patients from across the country by treating their symptoms.
“Thanks to our multidisciplinary approach, we are better at making the short time that people with this disease have—whether it’s 10 years or 15 years—higher quality,” Dr. Bega says.
To holistically improve life for these patients, coordination is critical. For example, Dr. Bega and the other neurologists at the clinic don’t just treat a patient’s movement symptoms, they work with a psychiatrist to make sure his therapies don’t inadvertently worsen other facets of the disease. They also refer patients and their families to the clinic’s genetic counselor, Lisa Kinsley, ’09 MS, CGC.
“Genetic counseling can help provide family members with accurate risk information, implications of presymptomatic testing and options for family planning,” says Kinsley, who is an alumna of the Northwestern University Graduate Program in Genetic Counseling. “I help make sure the patient and family feel informed and supported throughout this difficult diagnostic and testing process.”
If a patient with Huntington’s disease wants to have children, Kinsley can walk them through family planning options such as in vitro fertilization with preimplantation testing that checks for the mutated gene that causes the disease. Children of patients can be tested once they are 18, when they can legally give consent.
“If they do have the disease, there’s nothing we can do to prevent it. Sometimes people decide not to find out,” explains Dr. Bega. “There are a lot of ethical and social issues that need to be taken into account with this disease.”
To Find a Cure
Because Huntington’s disease isn’t as prevalent as other neurodegenerative disorders, scientists typically receive less funding to study it. But that doesn’t mean a cure isn’t within reach. While diseases such as Parkinson’s are caused by a combination of factors, including multiple genes and environmental exposures, every Huntington’s patient has essentially the same genetic mutation.
“We know the gene, we know what it does, we know what’s causing the problem,” Dr. Bega says. “If we’re ever going to solve a neurodegenerative disease, this would be the one.”
With a team of basic science researchers at the forefront of Huntington’s disease discovery,
Northwestern is equipped to contribute to a solution.
Dimitri Krainc, MD, PhD, Aaron Montgomery Ward Professor, chair of the Department of Neurology, and a leading scientist in the field, previously discovered how a mutation in the HTT gene, which makes a protein called huntingtin, leads to the dysfunction of brain cells early in the disease, possibly even before symptoms appear. His research identified the underpinnings that serve as the foundation for the development of new treatments.
“This abnormal protein accumulates within the brain, destroying brain cells,” Dr. Krainc explains. “Developing therapeutic agents for all neurodegenerative diseases requires an in-depth understanding of the mechanisms that link the underlying biology and the resulting neuronal dysfunction.”
The new clinic will partner with basic science researchers on both Northwestern University campuses to help translate the new discoveries to patients.
“The clinic will build on the tremendous strength of Northwestern scientists conducting preclinical Huntington’s disease research,” says Tanya Simuni, MD, Arthur C. Nielsen Professor of Neurology and director of the Parkinson’s Disease and Movement Disorders Center, which houses the clinic. “It will be the mechanism for translating their discoveries into clinical research, leading to better therapies and, ultimately, to cures for the thousands of patients and families living with the disease.”
In the more immediate future, the clinic is going to participate in a worldwide prospective observational study called Enroll-HD, which aims to include at least a third of the world’s population of Huntington’s patients. Sponsored by the CHDI Foundation, a not-for-profit biomedical research organization devoted to Huntington’s disease, the study has no planned end date. Investigators hope to learn a lot by following how the disease appears and changes over time in different people, and to use that information to design future studies.
Improving Life for Patients and their Families
Patient-family education is another goal of the clinic. On Sept. 26, the clinic will hold its first symposium for patients with Huntington’s disease and their loved ones. Drs. Krainc and Bega, along with other staff from the clinic, will discuss new research, how the brain changes in the disease, and best practices for disease management. There will also be breakout sessions for attendees to ask questions about the neurologic, genetic, psychiatric, social and rehabilitation sides of the disease.
“The field of movement disorders, Huntington’s disease especially, is about building relationships with patients that are long term. In many cases, we see them every three months or so for the rest of their lives,” Bega explains. “It’s an honor to be involved in the day-to-day aspects that make the lives of patients and their families better.”