Restless legs syndrome brain stimulation study supports motor cortex ‘excitability’ as a cause

Press release:

Johns Hopkins Medicine researchers say new experiments using magnetic pulse brain stimulation on people with moderate to severe restless legs syndrome (RLS) have added to evidence that the condition is due to excitability and hyperarousal in the part of the brain’s motor cortex responsible for leg movement.

The researchers say their findings, published online in Sleep Medicine on May 31, may help devise safer, more effective ways to treat RLS and the chronic sleep deprivation it causes, using electrical or magnetic pulses to calm or interrupt the hyperarousal. Some 10 percent of adults in the U.S. experience RLS at one time or another, and about 1 in 500 report that the condition is severe and chronic enough to interfere with their quality of life, work productivity or mental health, according to the National Sleep Foundation.

People with severe RLS describe symptoms of the condition as an overwhelming urge to move their legs when they are at rest. They may feel pain, or the sensation of soda bubbles in their veins or worms crawling in their legs, with relief coming only when standing or deliberately moving their legs. Long-term effects include fatigue, anxiety and depression, much of it linked to repeated interruption of sound sleep. Standard treatments, which may carry significant side effects, include medications that behave like the neurotransmitter dopamine, opioids and anti-seizure drugs.

Although many conditions, such as kidney disease and diabetes, have been associated with RLS, the neurological roots of the condition have been subject to much debate.

The new study, the Johns Hopkins researchers say, supports the idea that the underlying mechanism for RLS rests in the brain’s “move my legs” center and makes even more sense of the relief those with RLS experience when they get up and move them.

“Essentially the brain sends the signal when it’s preparing to move a limb, even when you aren’t planning to move, so your body is ready and amped up,” says Richard Allen, Ph.D., professor of neurology at the Johns Hopkins University School of Medicine. “The only way to alleviate the feeling is to move.”

In the new study, the researchers identified 32 adults with a moderate to severe RLS diagnosis from patients and asked them to stop their treatments for 12 days. They recruited 31 adult matched controls with no history of RLS or other sleep disorders and healthy sleeping patterns as controls. Participants in both groups were an average age of 58, and 59 percent were women.

For the experiments, the researchers used transcranial magnetic stimulation (TMS) to apply safe pulses able to selectively stimulate various regions of the brain that control movement of the muscles in the hand or the leg. They then used electrodes attached to the hand or leg to measure muscle responses in that hand or leg during such stimulations in those with RLS and in the control group.

Pairing two pulses as a stimulus can either cause a reaction or suppress/inhibit a reaction in a muscle depending on the timing between the two pulses. The researchers looked at one type of excitatory paired pulses and two types of inhibitory pulses¾short- and long-interval ones.

For each analysis, the researchers took the ratio of the responses. The ratios were greater in the leg for those with RLS, at 0.36 compared with 0.07 for those people without RLS, when looking at the inhibitory long-interval pulses, but not with the short-interval pulses. They said they didn’t see a difference in excitatory pulses in the legs.

“This basically means that inhibition is reduced or weakened in people with restless legs syndrome compared to people without the condition,” says Rachel Salas, M.D., associate professor of neurology at Johns Hopkins. “The reduced response means that the region of the brain controlling the legs shows increased cortical excitability in the motor cortex.”

In a separate set of experiments measuring the effect of paired pulses given to the brain in the region that controls the hand, they found no real differences in the ratios of either of the inhibitory pulses¾short- or long-interval ones¾between people with RLS and those without the condition.

But the researchers say they did find that the ratios picked up from the hand muscles using excitatory pulses were lower, at 1.01 compared with controls with a ratio of 1.85.

“The measurements from the hand muscles show that the activity in the brain is reduced in the region that controls the hand in people with restless legs syndrome compared to controls,” says Salas.

Salas says that previous research shows that inhibitory pulses are associated with the action of the neurotransmitter GABA, a brain chemical typically known for tamping down activity in the brain’s neurons. The researchers say that since there is hyperactivity in the leg-controlling portion of the brain, it’s possible that cells and tissues there are lacking enough GABA to prevent hyperactivity.

“Other studies with TMS have been done on people with RLS, but they didn’t look at people with severe forms of the condition or at the long-interval paired pulses in the leg,” says Salas. “We are fortunate to have access to such individuals because the Johns Hopkins Sleep Center attracts people worldwide and many who have exhausted treatment options available elsewhere,” she adds.

Salas notes that medications that act like the neurotransmitter dopamine, such as ropinirole or pramipexole, work in the short term but can exacerbate the condition over time. Opioids are effective, but not ideal due to their risk for dependency. With the results of this new study, the researchers are hoping to use electrical stimulation to suppress the brain’s activity, and planning of these studies is in the works.

High levels of rare gut bacteria may be linked to restless legs syndrome

Press release:

SAN ANTONIO – Small intestine bacterial overgrowth (SIBO) may be more prevalent among patients with restless legs syndrome (RLS), according to preliminary findings from a small, new study.

Results show that SIBO was found in all seven participants who have RLS. In contrast, the prevalence of SIBO in the general population is estimated to be no more than 15%.

“We’ve observed extremely high rates of small intestinal bacterial overgrowth in the RLS group,” said lead author Daniel Jin Blum, Ph.D., D.B.S.M., an adjunct clinical instructor at Stanford Center for Sleep Sciences and Medicine in Redwood City, California. “Exploring the relationship between RLS and gut microbial health has the potential to open novel avenues for possible detection, prevention and treatment for RLS and other sleep disorders.”

SIBO is a condition in which rare gut-residing bacteria are over-represented in the gut. RLS is a sensorimotor disorder characterized by a complaint of a strong, nearly irresistible urge to move the limbs that is often accompanied by other uncomfortable sensations. These symptoms begin or worsen during periods of rest or inactivity such as lying down or sitting, are partially or totally relieved by movement such as walking or stretching, and occur exclusively or predominantly in the evening or at night.

Low iron in the brain is a key risk factor for RLS. According to the authors, this brain iron deficiency may be secondary to dietary iron deficiency or, potentially, gut inflammation.

Study participants completed questionnaires concerning sleep and SIBO symptoms and took home a fecal collection kit and a SIBO breath test kit. Fecal samples were examined by the University of Minnesota Genomics Center, and SIBO breath samples were evaluated by Aerodiagnostics for hydrogen and methane abnormalities.

Additional study participants continue to be recruited at the Stanford Sleep Center. Further analyses will examine fecal microbial composition, subtypes of RLS iron deficiency, and comparisons with insomnia.

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The research abstract was published recently in an online supplement of the journal Sleep and will be presented Sunday, June 9, in San Antonio at SLEEP 2019, the 33rd annual meeting of the Associated Professional Sleep Societies LLC (APSS), which is a joint venture of the American Academy of Sleep Medicine and the Sleep Research Society.

This study was funded by a Pau Innovation Gift Fund Seed Grant.

Abstract Title: Restless Leg Syndrome: Does It Start With A Gut Feeling?

Brain structure linked to symptoms of restless legs syndrome

Press release:

MINNEAPOLIS – People with restless legs syndrome may have changes in a portion of the brain that processes sensory information, according to a study published in the April 25, 2018, online issue of Neurology®, the medical journal of the American Academy of Neurology.

Restless legs syndrome is a disorder that causes uncomfortable sensations in the legs, accompanied by an irresistible urge to move them. It often occurs in the evening and at night, sometimes affecting a person’s ability to sleep. In some cases, exercise may reduce symptoms. Iron supplements may also be prescribed if there is an iron deficiency. For more serious cases, there are also medications, but many have serious side effects if taken too long.

“Our study, which we believe is the first to show changes in the sensory system with restless legs syndrome, found evidence of structural changes in the brain’s somatosensory cortex, the area where sensations are processed,” said study author Byeong-Yeul Lee, PhD, of the University of Minnesota in Minneapolis. “It is likely that symptoms may be related to the pathological changes in this area of the brain.”

The brain’s somatosensory cortex is part of the body’s somatosensory system, which is made up of nerves and pathways that react to changes either inside or outside the body. This system helps a person perceive touch, temperature, pain, movement and position.

The study involved 28 people with severe restless legs symptoms who had the disorder for an average of 13 years. They were compared to 51 people of the same age without the disorder. Each participant had a brain scan with magnetic resonance imaging (MRI).

Researchers found that people with restless legs syndrome had a 7.5 percent decrease in the average thickness of brain tissue in the area of the brain that processes sensations compared to the healthy participants. They also found a substantial decrease in the area of the brain where nerve fibers connect one side of the brain to the other.

Lee said, “These structural changes make it even more convincing that RLS symptoms are stemming from unique changes in the brain and provide a new area of focus to understand the syndrome and possibly develop new therapies.”

He said while the study shows a possible link between symptoms and the areas of the brain that process sensory information, it is possible that symptoms may instead be linked to impaired function in other parts of the sensory system.

Restless legs syndrome study identifies 13 new genetic risk variants

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A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, while helping inform potential new treatment options for the condition.

As many as one in ten people of European ancestry is affected by restless legs syndrome, in which sufferers feel an overwhelming urge to move, often in conjunction with unpleasant sensations, usually in the legs. Rest and inactivity provoke the symptoms, whereas movement can lead to temporary relief. The condition is chronic and can get progressively worse, with long-lasting effects on patients’ mental and physical health. People with restless legs syndrome have substantially impaired sleep, reduced overall quality of life, and increased risk of depression, anxiety disorders, hypertension, and, possibly, cardiovascular disease.

For around one in 50 people, the condition can be severe enough to require chronic medication, which may in turn have potentially serious side effects.

Studies of families and twins have shown that there is a strong genetic component to the disorder and led to the discovery of six genetic variants that increased the risk of developing the condition.

“We have studied the genetics of restless legs syndrome for more than 10 years and the current study is the largest conducted so far,” says Dr Barbara Schormair from the Institute of Neurogenomics at the Helmholtz Zentrum München, first author of the study. “We are convinced that the newly discovered risk loci will contribute substantially to our understanding of the causal biology of the disease.”

Now, an international team of researchers has compared the genetic data from over 15,000 patients with more than 95,000 controls, and identified a further 13 genetic risk variants. The findings were then replicated in a sample of 31,000 patients and 287,000 controls. The results are published in Lancet Neurology.

“Restless legs syndrome is surprisingly common, but despite this, we know little about what causes it – and hence how to treat it,” says Dr Steven Bell from the Department of Public Health and Primary Care at the University of Cambridge, also one of the first authors on the study. “We already know that it has a strong genetic link, and this was something we wanted to explore in more detail.”

Several of the genetic variants have previously been linked to the growth and development of nerve cells – a process known as neurogenesis – and to changes in the formation of neuronal circuits. These findings strengthen the case for restless legs syndrome being a neurodevelopmental disorder whose origins may go back to development in the womb as well as impaired nerve cell growth in later life.

“The genetic risk variants that we’ve discovered add more weight to the idea that this condition is related to the development of our nervous system,” says Dr Emanuele Di Angelantonio, also from the Department of Public Health and Primary Care. “It also gives us some clues to how we may treat patients affected by the condition.”

Prof Juliane Winkelmann, who heads the Institute of Neurogenomics at the Helmholtz Zentrum as well as a restless legs syndrome outpatient clinic at the Klinikum Rechts der Isar in Munich, adds: “Our genetic findings are an important step towards developing new and improved treatment options for our patients.”

One particular biological pathway implicated by the findings is known to be a target for the drug thalidomide. While the drug has a controversial reputation due to its previous use when treating pregnant women that led to serious birth defects in their offspring, it is now used to treat some cancers. The researchers suggest that thalidomide or similar drugs may offer potential treatment options for male patients with restless leg syndrome and female patients beyond reproductive age, but they stress the necessity of rigorous clinical testing for efficacy and side-effects before any such use.