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Tuesday, February 2, 2016

 

By MELISSA ARMSTRONG, MD, MSC

Losing weight, quitting smoking, exercising more—these are great New Year's resolutions to share with your doctor, especially if your doctor encourages and motivates you and holds you accountable. But, there are other goals, seemingly unrelated to health, that are also worth sharing with your physician.

When I know my patients' other goals, I can tailor their treatments for their particular situation, which results in more personalized care. Here are some examples from my movement disorders practice.

Goal: "I want to walk my daughter down the aisle for her wedding this summer."

One of my patients with Parkinson's disease told me one January that he wanted to walk his daughter down the aisle at her June wedding and share a father-daughter dance with her.

My Approach: As the date neared, we explored some new medications for improving a tremor (a symptom that didn't usually bother him, but something he didn't want to distract from the wedding) and planned physical therapy just prior to the wedding to make sure his walking (and dancing!) was optimized.

Goal: "I want to do well on my exams this semester."

I had a patient with dystonia last year who was enrolled in college. When she learned that one of the possible side effects of trihexyphenidyl (Artane), a common medication for dystonia, was mental slowing, she was concerned that it might affect her academic performance.

My Approach: We discussed the pros and cons of starting the medication in the context of her semester goals. She decided that she would not start treatment until after she completed college, since trihexyphenidyl is not meant to be started and stopped.

Goal: "I'd like to retire this year."

People with Parkinson's disease are often diagnosed in their early 60s (on average), a time when they are weighing the pros and cons of continuing to work or retire. A diagnosis can affect their retirement plans and force decisions regarding disability.

My Approach: When one of my patients wants to work as long as possible, we discuss medications that target symptoms that affect employment. For example, we might use levodopa to prevent slow and less accurate typing. For those planning to retire or apply for disability, I connect them with our social worker to make sure they and their families have planned appropriately and have the forms and medical coverage they need.

What goals will you share with your doctor at your next visit? Don't hesitate to discuss them with your neurologist.

Armstrong_Melissa (1).JPGDr. Armstrong is a movement disorders specialist at the University of Florida Health Center for Movement Disorders and Neurorestoration in Gainesville. She is also involved in the American Academy of Neurology's evidence-based guideline program.


Tuesday, December 15, 2015

BY REBECCA HISCOTT

 

 

A new genetic screening program called GeneMatch makes it easier for people genetically predisposed to Alzheimer’s disease to enroll in clinical trials designed to prevent or delay the onset of the disease.

 

The Banner Alzheimer’s Institute launched the genetic testing initiative to create a large nationwide database of volunteers who have been tested for specific genes associated with Alzheimer’s risk. 

 

GeneMatch will serve as a recruitment pool for other Alzheimer’s studies, including those that look at genetic risk factors, said Eric Reiman, MD, executive director of the Banner Alzheimer’s Institute and co-director of the Alzheimer’s Prevention Initiative (API), during an online seminar and panel discussion with reporters.

 

APOE4: A Known Genetic Risk Factor

The apolipoprotein (APOE) 4 gene is known to increase the risk of developing Alzheimer’s, Dr. Reiman explained. People can inherit, no, one, or two copies of the gene from their parents. “Each additional copy of this gene is associated with a higher risk of developing Alzheimer’s,” he said.

 

Several trials already underway will use data from GeneMatch volunteers. For example, the API APOE4 study will look at whether two treatments can prevent or delay the onset of Alzheimer’s disease in cognitively normal people with two copies of the APOE 4 gene, which puts them at the highest genetic risk for developing Alzheimer’s disease later in life, Dr. Reiman said.

 

“We hope this shared resource will help researchers continue to clarify the earliest brain changes associated with Alzheimer’s [and] identify some of the factors that protect some APOE 4 carriers from developing Alzhiemer’s at older ages. More importantly, we hope that it will contribute to a growing number of prevention trials…within the next 10 years,” he said.

 

Eligibility Requirements

You can enroll in GeneMatch if you’re between 55 and 75 years old, live in the United States, and do not have a diagnosis of dementia or another form of cognitive impairment, said Jessica Langbaum, PhD, principal scientist at the Banner Alzheimer’s Institute, director of the API, and principal investigator for GeneMatch.

 

To volunteer, visit the GeneMatch website, review information about the registry, and give consent to have your genetic information tested, Dr. Langbaum said. You will then be sent a cheek swab kit, which is sent back for testing. The results will be entered into the GeneMatch database, and you will be informed of any research studies for which you might be eligible.

 

“GeneMatch does not disclose [genetic] information to its program participants,” Dr. Langbaum said. “However, studies that use GeneMatch for their recruitment may require volunteers to learn their APOE 4 results. Individuals who join GeneMatch are never under any obligation to participate in studies or learn their APOE results.”

 

To learn more about GeneMatch, visit endALZnow.org/GeneMatch.

 

To learn more about Alzheimer’s disease, read Alzheimer’s Disease: The Basics. For articles about Alzheimer’s, treatment options, and ongoing studies, browse our archives.


Thursday, November 19, 2015

BY REBECCA HISCOTT

 

In 1983, the life expectancy for a person with Down syndrome—a genetic disorder that causes low muscle tone, small stature, and an upward slant to the eyes, as well as developmental or cognitive delays—was age 25. Today, thanks to advances in medical technology, people with Down syndrome are living longer, with 80 percent living to age 60. But this as people with Down syndrome live longer, so too do they face an increased risk for Alzheimer's.

 

New Research Projects

The National Institutes of Health (NIH) announced Wednesday that it’s supporting two large-scale research projects to study the progression of Alzheimer’s disease in people with Down syndrome and identify biological markers (or biomarkers) in the blood and cerebrospinal fluid that may signal the risk, onset, and progression of Alzheimer’s. The Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute on Aging at the NIH will provide an estimated $37 million over five years to support the projects.

 

People with Down syndrome are born with an extra copy of chromosome 21, which contains the amyloid precursor protein (APP) gene, according to the NIH. This gene is linked to the production of beta-amyloid protein; when too much of this protein accumulates in the brain, it can form the sticky plaques that accumulate in nerve cells in Alzheimer’s disease. Having three copies of the APP gene is a known risk factor for developing early-onset Alzheimer’s.

 

By age 40, most people with Down syndrome have these plaques in their brains, the NIH says, along with twisted tangles of tau protein, another hallmark of Alzheimer’s disease. Not all of those with plaques and tangles in the brain will go on to develop Alzheimer’s, but the NIH estimates that at least half of people with Down syndrome will develop dementia due to Alzheimer’s disease as they age into their 70s. Many begin to show symptoms in their 50s and 60s. Given the presence of amyloid and tau in autopsied brain tissue, scientists want to find out why some, but not all, people with Down syndrome develop Alzheimer's.

 

The Hunt for Biomarkers

The new studies, which will involve researchers from all over the country, will use positron emission tomography (PET) and magnetic resonance imaging (MRI) scans to track levels of the amyloid and tau proteins in the blood and cerebrospinal fluid of participants and measure brain volume and function. The researchers will also administer blood tests to look for genetic factors involved in Alzheimer’s risk and identify blood-based markers of the disease, as well as a battery of cognitive and memory tests to measure changes in behavior and cognitive function.

 

Ambitious Aims

“These are the first large-scale efforts to identify the progression of clinical, cognitive, imaging, genetic, and biochemical biomarkers of Alzheimer’s disease in Down syndrome,” Laurie Ryan, PhD, chief of the Dementias of Aging Branch in the NIA’s Division of Neuroscience, told Neurology Now in an email.

 

The hope is that researchers will one day be able to use these biomarkers to evaluate the effectiveness of new treatments, she said.

 

For more information about Down syndrome and Alzheimer’s disease, visit the NIH’s resource page. To learn more about Down syndrome, go to the National Down Syndrome Society website. For articles about Alzheimer’s disease and dementia, browse our archives here.

 

Image by Vanellus Foto (Own work) [GFDL or CC BY-SA 3.0], via Wikimedia Commons.


Monday, November 2, 2015

BY RAGHAV GOVINDARAJAN, MD

 

Lisa was a vivacious 40-year-old when she was diagnosed with amyotrophic lateral sclerosis (ALS). Over the next two years, she went from managing a cosmetics store to being completely wheelchair-bound. During every visit, her husband asked me if there was a cure, and every time my answer was the same: “No.”

 

Despite many advances in medicine, treatment for ALS remains elusive—and several factors complicate the search for a cure. I’ll try to provide clarity on some of those factors.

 

Genetic Complications

ALS is rarely inherited. Only 5 to 10 percent of cases are passed down from families. The other 90 to 95 percent are sporadic, meaning people get the disease randomly. Some genes have been found that are linked to the disease, including the SOD1 and C9ORF72 genes. Researchers have learned that different genes cause different manifestations of the disease, which may require different treatments. This adds a whole new layer of complexity to finding a cure.

Unreliable Lab Rats

Before drugs are tested in humans, they are often tested in rats or mice in the hopes that the results will translate to humans. Typically, researchers first inject mice with disease-causing genes. Then, they inject various drug molecules to see if those molecules stop the disease or slow its progression. Unfortunately, many drugs that have worked in mice fail to produce the same results in human trials.

 

Inadequate Blinding

The gold standard for human trials is the double-blind study, which is designed so that neither the patient nor the doctor knows who is taking the drug and who is getting the placebo. This ensures that conclusions drawn from the study are valid and free from bias. Many trials using lab animals are done without adequate blinding, potentially exaggerating the results. In some cases, when adequate blinding was applied to animal studies, the results weren’t as dramatic as initially claimed, or the drug molecules actually worsened the disease.

 

Insensitive Biomarkers

Biomarkers are signals in the blood or body that indicate disease activity. So, for instance, high cholesterol is considered a biomarker for stroke or heart disease. In ALS, doctors look for biomarkers using the ALS Functional Rating Scale, which measures changes in physical functioning due to the disease. They also measure muscle strength and breathing capacity using various devices. These biomarkers aren’t sensitive enough to measure disease activity during a clinical trial, however. By the time researchers see changes in these measurements, the disease may be too advanced; if the drug hasn’t worked, much time and effort will have been wasted. So far, no clinical trial for ALS has been able to determine whether the drug reached its intended target (whether the target is a cell, a protein, or a specific gene), if the drug levels in the blood were adequate, or if the drug did what it was supposed to do.

 

Poor Trial Design

In the race to find a cure, many doctors and researchers have tested various types of drugs on ALS patients. Many of these trials are small and poorly designed, and only add muddled data. Equally concerning are disreputable quacks offering snake oil in the form of unproven stem cell therapy, fleecing patients of their life savings.

 

Delayed Diagnoses

Another challenge is delayed diagnosis. Patients often see several doctors before getting an official diagnosis, in part because there is no simple diagnostic test for ALS. By the time patients enter a clinical trial, their disease may be too advanced for the drug to work.

 

As scientists continue to look for a cure for ALS, I encourage people like Lisa to seek multidisciplinary care from a team of compassionate physicians who can improve their quality of life. And despite some of the challenges in ALS clinical trials, I still urge people with ALS to consider enrolling to get the best possible care and to propel research forward.

 

Check back soon for an article where I’ll share the top advances in ALS research, which might one day lead to a cure for this devastating disease.

 

Ask Dr. G: If you have a question for Dr. Govindarajan, a neurologist at the University of Missouri in Columbia, MO, please click here.


Wednesday, October 21, 2015

BY REBECCA HISCOTT

 

 

People with multiple sclerosis (MS) who soaked up sun in their teenage years and stayed trim in their 20s developed the disease later than people who were overweight in their 20s or spent less time outdoors in their teens, researchers reported in a new study in Neurology.

 

The study adds to past research showing that exposure to sunshine and high levels of vitamin D (which people get mainly from the sun) can affect MS symptoms and onset, they said.

 

Researchers in Denmark evaluated 1,161 Danish people with MS between 2009 and 2012. The participants, who were all enrolled in a national registry for MS, completed questionnaires asking about a number of factors early in life, including how much time they spent in the sun during their teenage years and how much they weighed at age 20. (The researchers excluded study participants who had been diagnosed with MS before age 20.)

 

More Sun, Less Weight Linked to MS Delay

People who said they spent time in the sun every day as teenagers developed MS an average of 1.9 years later (around age 32.9) than those who had spent less time in the sun, who were diagnosed around age 31.

 

The researchers also found that people who were overweight at age 20 (defined as a body mass index [BMI] over 25) developed the disease 1.6 years earlier than those who were of a normal weight (a BMI of 18.5 to 24.9) and 3.1 years earlier than those who were underweight (a BMI of less than 18.5).

 

Vitamin D and MS

Sunlight is one of the main sources of vitamin D, and higher levels of vitamin D have been shown to protect against MS symptoms and even lower the risk of developing the condition, the researchers noted. But it’s also possible that sunshine delays MS independently of its effect on vitamin D, they said.

 

“The factors that lead to developing MS are complex and we are still working to understand them all. This study suggests that sun exposure during the teenage years may even affect the age of onset of the disease, but it’s possible that other outdoor factors play a role, and these still have to be identified,” said study author Julie Hejgaard Laursen, MD, PhD, a researcher at Copenhagen University Hospital, in a news release.

 

The relationship between weight and MS also might be explained by a vitamin D deficiency, Dr. Laursen added. People who are obese tend to have lower levels of vitamin D, the researchers noted in their study. “But there’s not enough direct evidence to establish this yet,” Dr. Laursen said.

 

Study Caveats

The study only included Danish participants, so results may not translate to people living in other parts of the world or of other ethnicities, the researchers warned.

 

Recall bias could be another problem. Study participants were asked to report on early-life factors many years and even decades later, and it’s possible that they misremembered certain facts, the researchers cautioned. These are all factors that need to be tackled in future research.

 

To learn more about MS, read The Basics. For more articles about MS, browse our archives.

 

Image via John Morgan on Flickr.