A Look Inside Huntington’s Disease | Bay Alarm Medical Mondays
May 18, 2015
As you may know, Bay Alarm Medical is working closely with Huntington’s Disease Society of America (HDSA) to spread awareness. Our team connected with Dr. Alexandra Nelson of University of California, San Francisco, for a deeper understanding of the fatal disease and how the community can get involved.
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Kayla: Hi, my name is Kayla with Bay Alarm Medical and I’m here with Dr. Alexandra Nelson at UCSF. Can you tell us a little about yourself and what you do here?
Dr. Nelson: Yeah, sure. I’m a junior faculty member at UCSF and I split my time between studying diseases, like Huntington’s disease (HD) in the laboratory and caring for patients who have HD and their families in the clinic.
I understand you want to learn more about Huntington’s disease (HD).
Dr. Nelson: So, HD is a neurodegenerative condition that unfortunately runs in the family, it is inherited. It’s called an autosomal dominant disorder because a patient only needs to inherit one bad copy of the gene that causes HD. So, that means if a parent has HD, there is a 50 percent chance that they will pass that gene on to every child they have.
HD is unfortunately disease that occurs in mid-life. It can happen in childhood and later in life, but most common in the prime of life. It’s a neurodegenerative condition which means it effects areas of the brain and causes a gradual loss of cells in that area of the brain. Patients develop symptoms which causes difficulty with controlling movement, thinking, memory and controlling emotions and behaviors.
You can imagine with these kinds of symptoms that it causes a lot of pain and suffering for patients and their families.
Kayla: If someone does have HD, would you recommend other family members to be tested for the gene?
Dr. Nelson: It’s an individual decision to be tested if you don’t have symptoms. When people start noticing symptoms, I absolutely recommend people get tested so that one can confirm that it is HD that they are suffering from to help develop the right kind of therapeutic therapy.
Kayla: You mentioned that patients can get HD earlier in life, is there a difference in the symptoms if they were to get it as a child versus later in life?
Dr. Nelson: It varies from person to person and from family to family when the disease begins. Sometimes there might be two siblings with HD but they have different symptoms. One family member might have predominantly movement symptoms and another family member might have psychiatrics symptoms like depression or anxiety or irritability.
Eventually, most people develop all these symptoms but the particular mixture varies from person to person.
Kayla: Okay. So I see you have a model of the brain, can you show us?
Dr. Nelson: If you think about HD. It strikes a particular part of the brain. Two main regions. This outer part is called the cortex and if you look inside, deep in the middle is called the basal ganglia. One of these areas, the Striatum is where HD begins.
Note: visual demonstration – video time at 3:30
Kayla: So speaking of the control of movement, someone that doesn’t know anything about the disease, what symptoms would they notice in a person with HD?
Dr. Nelson: So, the classic symptoms of HD are called Chorea, which are random, involuntary movements that can occur all over the body.
Kayla: Like twitching or shaking?
Dr. Nelson: It’s not so much jolt like, but it’s a random flowing movement, almost dance-like. This is a classic abnormality in patients with HD and actually the most treatable aspect of HD.
The thing that is more difficult are cognitive and psychological symptoms. They’re not happening on the outside but on the inside. Things like crankiness, depression, anxiety, anger, impulsivity and these can be difficult because the patients themselves may not realize where these symptoms are coming from.
Kayla: Well, sure, that’s like everyone in the world that gets cranky.
Dr. Nelson: Absolutely. These things are hard to tell from the beginning and it’s sometimes not until after having HD for years when people realize these are in fact symptoms of HD.
Family members often tell me their partner was never like this before and they were always easy-going but their personality has changed. These symptoms are troublesome but with therapy and the right medication it can be managed.
Kayla: Can someone develop HD without having inherited the disease?
Dr. Nelson: There are cases where a person is the first person in their family to develop HD. It’s an estimated of 5-10% of all patients we see with HD are the first in their family and there is no family history of the disease. There are a variety of explanations for that, but in many cases, there is a new mutation that causes them to develop the disease.
Kayla: I read somewhere that there are clinical studies, can you tell us about that?
Dr. Nelson: Yes, there are a number of different clinical trials for new medications for HD. Some are aimed at reducing the symptom and others involve targeting the protein that is believed to be abnormal in HD and to reduce the level of that protein to either prevent or delay the onset.
Kayla: Am I correct that the disease can be compared to a mixture of ALS, Parkinson’s and Alzheimer’s?
Dr. Nelson: That is a great analogy. Like Alzheimer’s, Parkinson’s, and ALD—Huntington’s disease is a neurodegenerative disease. And like those diseases, it has a combination of effects like the control of the body, like ALS and the control of the mind, like Alzheimer’s. HD unfortunately does both. HD has a lot of similarities to Parkinson’s because it effects movement, balance, speech and swallowing.
Kayla: That’s so terrible. Tell me about HDSA and what they hope to achieve by raising awareness of HD.
Dr. Nelson: The Huntington’s Disease Society of America, or HDSA, is actually the biggest patient and physician advocacy group for HD. It’s a means where we can raise awareness about the disease and the help we are able to provide to families with HD and actually get more people in the fold in regards to the knowledge we can provide about the disease.
The HDSA website is a great resource for patients, families, and interested community members to get involved. The website has information about support groups, clinical research that’s going but also fundraising events, like walks, that are going on in individual communities all across the country.
Kayla: Great. I want to thank you for your time today. It’s been a pleasure.
Dr. Nelson: Thank you.
For more information on Huntington’s Disease, please visit the HDSA website.
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