Chapter 11. Motor Control and Plasticity

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By Denise Grady Year after year for two decades, Nancy Wexler led medical teams into remote villages in Venezuela, where huge extended families lived in stilt houses on Lake Maracaibo and for generations, had suffered from a terrible hereditary disease that causes brain degeneration, disability and death. Neighbors shunned the sick, fearing they were contagious. “Doctors wouldn’t treat them,” Dr. Wexler said. “Priests wouldn’t touch them.” She began to think of the villagers as her family, and started a clinic to care for them. “They are so gracious, so kind, so loving,” she said. Over time, Dr. Wexler coaxed elite scientists to collaborate rather than compete to find the cause of the disorder, Huntington’s disease, and she raised millions of dollars for research. Her work led to the discovery in 1993 of the gene that causes Huntington’s, to the identification of other genes that may have moderating effects and, at long last, to experimental treatments that have begun to show promise. Now, at 74, Dr. Wexler is facing a painful and daunting task that she had long postponed. She has decided it’s time to acknowledge publicly that she has the disease she’s spent her life studying and that killed her mother, uncles and grandfather. “There is such stigma, and such ostracization,” Dr. Wexler, a professor of neuropsychology at the College of Physicians and Surgeons at Columbia University, said in a lengthy interview. “I think it’s important to destigmatize Huntington’s and make it not as scary. Of course it is scary. Having a fatal disease is scary and I don’t want to trivialize that. But if I can say, I’m not stopping my life, I’m going to work, we’re still trying to find a cure, that would help. If I can do anything to take the onus off having this thing, I want to do it.” Among her greatest concerns are the thousands of Venezuelans from the families full of the disease, whose willingness to donate blood and skin samples, and the brains of deceased relatives, made it possible to find the gene. But they live in an impoverished region, and, Dr. Wexler said, they are still outcasts. The clinic that she and her colleagues opened has been shut down by Venezuela’s government. © 2020 The New York Times Company

Keyword: Huntingtons; Genes & Behavior
Link ID: 27110 - Posted: 03.10.2020

By Karen Weintraub At age 16, German Aldana was riding in the back seat of a car driven by a friend when another car headed straight for them. To avoid a collision, his friend swerved and hit a concrete pole. The others weren’t seriously injured, but Aldana, unbuckled, was tossed around enough to snap his spine just below his neck. For the next five years, he could move only his neck, and his arms a little. Right after he turned 21 and met the criteria, Aldana signed up for a research project at the University of Miami Miller School of Medicine near his home. Researchers with the Miami Project to Cure Paralysis carefully opened Aldana's skull and, at the surface of the brain, implanted electrodes. Then, in the lab, they trained a computer to interpret the pattern of signals from those electrodes as he imagines opening and closing his hand. The computer then transfers the signal to a prosthetic on Aldana's forearm, which then stimulates the appropriate muscles to cause his hand to close. The entire process takes 400 milliseconds from thought to grasp. A year after his surgery, Aldana can grab simple objects, like a block. He can bring a spoon to his mouth, feeding himself for the first time in six years. He can grasp a pen and scratch out some legible letters. He has begun experimenting with a treadmill that moves his limbs, allowing him to take steps forward or stop as he thinks about clenching or unclenching the fingers of his right hand. But only in the lab. Researchers had permission to test it only in their facility, but they’re now applying for federal permission to extend their study. The hope is that by the end of this year, Aldana will be able to bring his device home — improving his ability to feed himself, open doors and restoring some measure of independence.

Keyword: Robotics
Link ID: 27107 - Posted: 03.09.2020

By Kelly Servick Building a beautiful robotic hand is one thing. Getting it to do your bidding is another. For all the hand-shaped prostheses designed to bend each intricate joint on cue, there’s still the problem of how to send that cue from the wearer’s brain. Now, by tapping into signals from nerves in the arm, researchers have enabled amputees to precisely control a robotic hand just by thinking about their intended finger movements. The interface, which relies on a set of tiny muscle grafts to amplify a user’s nerve signals, just passed its first test in people: It translated those signals into movements, and its accuracy stayed stable over time. “This is really quite a promising and lovely piece of work,” says Gregory Clark, a neural engineer at the University of Utah who was not involved in the research. It “opens up new opportunities for better control.” Most current robotic prostheses work by recording—from the surface of the skin—electrical signals from muscles left intact after an amputation. Some amputees can guide their artificial hand by contracting muscles remaining in the forearm that would have controlled their fingers. If those muscles are missing, people can learn to use less intuitive movements, such as flexing muscles in their upper arm. These setups can be finicky, however. The electrical signal changes when a person’s arm sweats, swells, or slips around in the socket of the prosthesis. As a result, the devices must be recalibrated over and over, and many people decide that wearing a heavy robotic arm all day just isn’t worth it, says Shriya Srinivasan, a biomedical engineer at the Massachusetts Institute of Technology. © 2020 American Association for the Advancement of Science

Keyword: Robotics
Link ID: 27095 - Posted: 03.05.2020

When the spinal cord is injured, the damaged nerve fibers — called axons — are normally incapable of regrowth, leading to permanent loss of function. Considerable research has been done to find ways to promote the regeneration of axons following injury. Results of a study performed in mice and published in Cell Metabolism suggests that increasing energy supply within these injured spinal cord nerves could help promote axon regrowth and restore some motor functions. The study was a collaboration between the National Institutes of Health and the Indiana University School of Medicine in Indianapolis. “We are the first to show that spinal cord injury results in an energy crisis that is intrinsically linked to the limited ability of damaged axons to regenerate,” said Zu-Hang Sheng, Ph.D., senior principal investigator at the NIH’s National Institute of Neurological Disorders and Stroke (NINDS) and a co-senior author of the study. Like gasoline for a car engine, the cells of the body use a chemical compound called adenosine triphosphate (ATP) for fuel. Much of this ATP is made by cellular power plants called mitochondria. In spinal cord nerves, mitochondria can be found along the axons. When axons are injured, the nearby mitochondria are often damaged as well, impairing ATP production in injured nerves. “Nerve repair requires a significant amount of energy,” said Dr. Sheng. “Our hypothesis is that damage to mitochondria following injury severely limits the available ATP, and this energy crisis is what prevents the regrowth and repair of injured axons.” Adding to the problem is the fact that, in adult nerves, mitochondria are anchored in place within axons. This forces damaged mitochondria to remain in place while making it difficult to replace them, thus accelerating a local energy crisis in injured axons.

Keyword: Regeneration
Link ID: 27091 - Posted: 03.04.2020

By Abdul-Kareem Ahmed “I use a spoon instead of a fork, so I spill less,” the patient said. “I eat sandwiches and hamburgers so I can use both hands to hold my food.” He was 73 and had suffered from essential tremor for the past decade. His hands would shake uncontrollably, more on the right than on the left, which would worsen if he tried using them. “I could still do crowns, but giving injections became impossible,” he said. His disease, gradual and grasping, had forced the Baltimore-area dentist into early retirement. The patient, who is not being named to protect his privacy, was going to undergo surgery to treat his tremor, which I was curious to observe. I headed to the MRI exam suite to meet him. Wearing a hospital gown, he sat at the edge of his bed, talking to the attending neurosurgeon. He was tall, and balder today than he usually was. As was required, he had shaved his head. Essential tremor is a neurological disease that can affect the torso, arms, neck, head or even voice. Medications are used to attenuate symptoms, but for many patients, these fail or are difficult to tolerate. “I don’t want to take medications forever,” he said. A particularity to this disease is social visibility. Like our patient, people with essential tremor tend to withdraw from society, feeling self-conscious about their inability to perform simple tasks. Dropping food, drinks or other objects is quickly noticed by others.

Keyword: Movement Disorders
Link ID: 27087 - Posted: 03.03.2020

Merrit Kennedy As doctors in London performed surgery on Dagmar Turner's brain, the sound of a violin filled the operating room. The music came from the patient on the operating table. In a video from the surgery, the violinist moves her bow up and down as surgeons behind a plastic sheet work to remove her brain tumor. The King's College Hospital surgeons woke her up in the middle of the operation in order to ensure they did not compromise parts of the brain necessary for playing the violin, such as parts that control precise hand movements and coordination. "We knew how important the violin is to Dagmar, so it was vital that we preserved function in the delicate areas of her brain that allowed her to play," Keyoumars Ashkan, a neurosurgeon at King's College Hospital, said in a press release. Turner, 53, learned that she had a slow-growing tumor in 2013. Late last year, doctors found that it had become more aggressive and the violinist decided to have surgery to remove it. In an interview with ITV News, Turner recalled doctors telling her, "Your tumor is on the right-hand side, so it will not affect your right-hand side, it will affect your left-hand side." "And I'm just like, 'Oh, hang on, this is my most important part. My job these days is playing the violin,' " she said, making a motion of pushing down violin strings with her left hand. Ashkan, an accomplished pianist, and his colleagues came up with a plan to keep the hand's functions intact. © 2020 npr

Keyword: Epilepsy; Movement Disorders
Link ID: 27054 - Posted: 02.20.2020

Scott Grafton When people ask me about the “mind-body connection,” I typically suggest walking on an icy sidewalk. Skip the yoga, mindfulness, or meditation, and head to the corner on a cold, windy, snowy day. Every winter, much of North America becomes exceedingly slippery with ice. Emergency rooms across the continent see a sharp uptick in fractured limbs and hips as people confidently trudge outside in such conditions, unveiling a profound disconnection between what people believe and what they can actually do with their bodies. One might think that a person could call on experience from years past to adjust their movement or provide a little insight or caution. But the truth is that the body forgets what it takes to stay upright in these perilous conditions. Why is there so much forgetting and relearning on an annual basis? We remember how to ride a bike. Why can’t we remember how to walk on ice? I attempt to answer this and other questions concerning the connection (or lack thereof) between motion in the mind and motion by the body in my new book, Physical Intelligence: The Science of How the Body and the Mind Guide Each Other Through Life. Pantheon, January 2020 Falling on ice reveals a delicate tradeoff that the brain must reconcile as it pilots the body. On the one hand, it needs to build refined motor programs to execute skills such as walking, running, and throwing. On the other hand, those programs can’t be too specific. There is a constant need to tweak motor plans to account for dynamic conditions. When I throw a backpack on, my legs don’t walk in the same way as they do without the pack: my stance widens, my stride shortens. Often, the tweaking needs to happen in moments. As I pick the pack up, I need to lean in or I could tip myself over. Just as importantly, as soon as I put it down, I need to forget I ever held it in the first place. © 1986–2020 The Scientist

Keyword: Learning & Memory
Link ID: 27001 - Posted: 01.28.2020

By Megan Schmidt Scientists say they’ve figured out what causes essential tremor, a common neurological disorder characterized by involuntary, rhythmic trembling that typically occurs in the hands. In a paper published in Science Translational Medicine this week, researchers at National Taiwan University and Columbia University Irving Medical Center discovered that people with essential tremor have abnormal connections among the neurons in their cerebellum, a region in the back of the brain that’s involved in the coordination of voluntary movement. Researchers say people with these abnormalities tend to generate overactive brain waves, or too much electrical activity, in this region of the brain, which is what fuels the tremors. In addition to pinpointing the roots of the disorder, the researchers say their work uncovered some new approaches that could potentially treat and diagnose essential tremor more effectively. Essential tremor is often mistaken for Parkinson’s disease, but there are some key distinctions that set these movement disorders apart. Parkinson’s, which is less common than essential tremor, is caused by the progressive loss of dopamine neurons in the midbrain, a small region of the brain that plays an important role in motor function. Essential tremor, as this new research reveals, is linked to abnormalities in the hindbrain — specifically, the cerebellum. © 2020 Kalmbach Media Co.

Keyword: Movement Disorders
Link ID: 26994 - Posted: 01.25.2020

Abby Olena Understanding the array of neural signals that occur as an organism makes a decision is a challenge. To tackle it, the authors of a study published last week (January 16) in Cell imaged large swaths of the larval zebrafish brain as the animals decided which way to move their tails to avoid an undesirable situation. Finding patterns in the data, they were then able to use imaging to predict—10 seconds in advance—the timing and direction of the fish’s movement. “In a lot of other model systems it’s really difficult to actually . . . record something that’s happening throughout the whole brain with a high level of precision,” says Kristen Severi, a biologist at the New Jersey Institute of Technology who was not involved in the study. “When you have something like a larval zebrafish where you have access to the entire brain with single-cell resolution in a transparent vertebrate, it’s a great place to start to try to look for activity patterns that might be distributed and might be hard to connect.” Even if an animal has learned to do something, it doesn’t execute the exact same motor responses every time, says biophysicist Alipasha Vaziri of the Rockefeller University. He adds that common approaches to studying the neural basis of decision-making may not tell the whole story. For instance, monitoring a handful of neurons and then extrapolating from their activity what’s happening brain-wide means that researchers might miss the big picture. Likewise, recording across the whole brain and then averaging results across trials risks losing details essential to understanding how the brain encodes this behavior. © 1986–2020 The Scientist

Keyword: Brain imaging
Link ID: 26990 - Posted: 01.24.2020

By Karen Weintraub A small injury to a nerve outside the brain and spinal cord is relatively easy to repair just by stretching it, but a major gap in such a peripheral nerve poses problems. Usually, another nerve is taken from elsewhere in the body, and it causes an extra injury and returns only limited movement. Now researchers at the University of Pittsburgh have found an effective way to bridge such a gap—at least in mice and monkeys—by inserting a biodegradable tube that releases a protein called a growth factor for several months. In a study published Wednesday in Science Translational Medicine, the team showed that the tube works as a guide for the nerve to grow along the proper path, and the naturally occurring protein induces the nerve to grow faster. Kacey Marra, a professor at the university’s departments of plastic surgery and bioengineering, says she’s been working for a dozen years on the device, which she particularly hopes will help soldiers injured in combat. More than half of injured soldiers suffer nerve injuries, she says. And as the daughter and granddaughter of military men, she considers it her mission to help their successors. Combat gear does a good job of protecting a soldier’s chest and head, but arms and legs are often exposed, which is why peripheral nerve injuries are so common, Marra says. Car crashes and accidents involving machinery such as snowblowers can also damage nerves involved in hand, arm, leg and foot control. In the U.S., there are about 600,000 nerve injuries every year, she says, though she is unsure how many are severe enough to require the relocation of a second nerve because that information is not tracked yet. When the injuries are severe, the only current treatment is to take a nerve from somewhere else on the body, Marra says. But patients recover just about 50 to 60 percent of function in the damaged nerve. © 2020 Scientific American,

Keyword: Regeneration
Link ID: 26985 - Posted: 01.23.2020

By Sharon Jayson AUSTIN, Texas — Retired state employees Vickey Benford, 63, and Joan Caldwell, 61, are Golden Rollers, a group of the over-50 set that gets out on assorted bikes — including trikes for adults they call “three wheels of awesome” — for an hour of trail riding and camaraderie. “I love to exercise, and I like to stay fit,” said Caldwell, who tried out a recumbent bike, a low-impact option that can be easier on the back. “It keeps me young.” Benford encouraged Caldwell to join the organized rides, which have attracted more than 225 riders at city rec centers and senior activity centers. The cyclists can choose from a small, donated fleet of recumbent bikes, tandem recumbents and tricycles. “With seniors, it’s less about transportation and more about access to the outdoors, social engagement and quality of life,” said Christopher Stanton, whose idea for Golden Rollers grew out of the Ghisallo Cycling Initiative, a youth biking nonprofit he founded in 2011. But that’s not all, according to brain scientists. They point to another important benefit: Exercising both body and brain can help people stay healthier longer. The new thinking about aging considers not just how long one lives, but how vibrant one stays later in life. “If you’re living, you want to be living well,” said Tim Peterson, an assistant professor of internal medicine at the Washington University School of Medicine in St. Louis. “Most people who were interested in life span and were studying genes — which control life span — switched to ‘healthspan.’” “Healthspan,” a coinage now gaining traction, refers to the years that a person can expect to live in generally good health — free of chronic illnesses and cognitive decline that can emerge near life’s end. Although there’s only so much a person can do to delay the onset of disease, there’s plenty that scientists are learning to improve your chances of a better healthspan. © 2020 Kaiser Family Foundation

Keyword: Development of the Brain
Link ID: 26932 - Posted: 01.04.2020

By Gretchen Reynolds What’s good for your muscles can also be good for your mind. A Single Workout Can Alter the Brain A single, moderate workout may immediately change how our brains function and how well we recognize common names and similar information, according to a promising new study of exercise, memory and aging. The study adds to growing evidence that exercise can have rapid effects on brain function and also that these effects could accumulate and lead to long-term improvements in how our brains operate and we remember. Until recently, scientists thought that by adulthood, human brains were relatively fixed in their structure and function, especially compared to malleable tissues, like muscle, that continually grow and shrivel in direct response to how we live our lives. But multiple, newer experiments have shown that adult brains, in fact, can be quite plastic, rewiring and reshaping themselves in various ways, depending on our lifestyles. A hormone that is released during exercise may improve brain health and lessen the damage and memory loss that occur during dementia, a new study finds. The study, which was published this month in Nature Medicine, involved mice, but its findings could help to explain how, at a molecular level, exercise protects our brains and possibly preserves memory and thinking skills, even in people whose pasts are fading. Considerable scientific evidence already demonstrates that exercise remodels brains and affects thinking. Researchers have shown in rats and mice that running ramps up the creation of new brain cells in the hippocampus, a portion of the brain devoted to memory formation and storage. Exercise also can improve the health and function of the synapses between neurons there, allowing brain cells to better communicate. © 2019 The New York Times Company

Keyword: Alzheimers
Link ID: 26925 - Posted: 12.30.2019

Scientists say they have discovered a possible underlying cause of the neurological disorder, motor neurone disease (MND). The University of Exeter team says it has found evidence that MND is linked to an imbalance of cholesterol and other fats in cells. It says the research could lead to more accurate diagnosis and new treatments. MND affects around 5,000 people in the UK and causes more than 2,000 deaths a year. What is MND? Motor neurone disease is a group of diseases that affect the nerve cells in the brain and spinal cord that tell your muscles what to do. Also known as ALS, it causes muscle weakness and stiffness. Eventually people with the disease are unable to move, talk, swallow and finally, breathe. There is no cure and the exact causes are unclear - it's been variously linked to genes, exposure to heavy metals and agricultural pollution. What did the researchers find? Scientists at the University of Exeter say they had a "eureka moment" when they realised that 13 genes - which, if altered, can cause the condition - were directly involved in processing cholesterol. They say their theory could help predict the course and severity of the disease in patients and monitor the effect of potential new drugs. The theory is outlined in a paper, published in Brain: A Journal of Neurology. Lead author Prof Andrew Crosby said: "For years, we have known that a large number of genes are involved in motor neurone disease, but so far it hasn't been clear if there's a common underlying pathway that connects them." The finding particularly relates to what is known as the "spastic paraplegias", where the malfunction is in the upper part of the spinal cord. Dr Emma Baple, also from the University of Exeter Medical School, said: "Currently, there are no treatments available that can reverse or prevent progression of this group of disorders. Patients who are at high risk of motor neurone disease really want to know how their disease may progress and the age at which symptoms may develop, but that's very difficult to predict." © 2019 BBC

Keyword: ALS-Lou Gehrig's Disease
Link ID: 26902 - Posted: 12.18.2019

By Gretchen Reynolds Top athletes’ brains are not as noisy as yours and mine, according to a fascinating new study of elite competitors and how they process sound. The study finds that the brains of fit, young athletes dial down extraneous noise and attend to important sounds better than those of other young people, suggesting that playing sports may change brains in ways that alter how well people sense and respond to the world around them. For most of us with normal hearing, of course, listening to and processing sounds are such automatic mental activities that we take them for granted. But “making sense of sound is actually one of the most complex jobs we ask of our brains,” says Nina Kraus, a professor and director of the Auditory Neuroscience Laboratory at Northwestern University in Evanston, Ill., who oversaw the new study. Sound processing also can be a reflection of broader brain health, she says, since it involves so many interconnected areas of the brain that must coordinate to decide whether any given sound is familiar, what it means, if the body should respond and how a particular sound fits into the broader orchestration of other noises that constantly bombard us. For some time, Dr. Kraus and her collaborators have been studying whether some people’s brains perform this intricate task more effectively than others. By attaching electrodes to people’s scalps and then playing a simple sound, usually the spoken syllable “da,” at irregular intervals, they have measured and graphed electrical brain wave activity in people’s sound-processing centers. © 2019 The New York Times Company

Keyword: Attention
Link ID: 26901 - Posted: 12.18.2019

By Tina Hesman Saey WASHINGTON — Clumps of misfolded proteins cause traffic jams in brain cells. Those jams may have deadly consequences in neurodegenerative diseases. Clusters of prions block passage of crucial cargo along intracellular roadways in brain cells, cell biologist Tai Chaiamarit of the Scripps Research Institute in La Jolla, Calif., reported December 10 at the joint annual meeting of the American Society for Cell Biology and the European Molecular Biology Organization. Prions, misshaped versions of a normal brain protein, clump together in large aggregates that are hallmarks of degenerative brain diseases, such as mad cow disease in cattle, chronic wasting disease in deer and Creutzfeldt-Jakob disease in people. It’s unclear why those clumpy proteins are so deadly to nerve cells called neurons, but the new study may provide clues about what goes wrong in these diseases. Axons, the long stringlike projections of nerve cells that carry electrical signals to other nerves, are the sites of prion traffic jams, Chaiamarit and colleagues found. As more prions clump together, they cause swollen bulges that make the axon look like a snake that has just swallowed a big meal. Through a microscope, Chaiamarit and colleagues saw mitochondria being transported toward the cell’s furthest reaches derailed at the bulges. Mitochondria, cells’ energy-generating organelles, are carried outbound from the main body of the cell by a motor protein called kinesin-1. The protein motors along molecular rails called microtubules. A different motor protein, dynein, transports mitochondria back toward the cell body along those same rails. © Society for Science & the Public 2000–2019

Keyword: Prions
Link ID: 26895 - Posted: 12.13.2019

By Sharon Begley, STAT Even allowing for the fact that these were lilliputian brains, they were not behaving at all according to plan. From the first days of the tiny lab-grown organs’ development, primitive “progenitor cells” romped out of their birthplaces in the deep interior and quickly turned into neurons and glia, specialized cells that do the brain’s heavy lifting, from thinking and feeling and moving to boring old neurological housekeeping. But the cells were jumping the gun. In healthy developing human brains, progenitor cells spend a good chunk of prenatal existence simply reproducing, vastly increasing their numbers and postponing becoming other brain cells. The impatient progenitor cells, however, were in cerebral organoids—minuscule 3-D versions of the brain—created from the cells of people with Huntington’s disease in hopes of mimicking the patients’ actual brain development decades earlier. It was new evidence that, in their understanding of this devastating genetic illness, scientists know only half the story: In addition to being a neurodegenerative disease, it is also neurodevelopmental, starting in the womb. These recent findings and other research are spurring a radical rethinking of Huntington’s, with implications for the age when any potential cure is likely to be most effective. “It’s not conclusive, but there is suggestive evidence that neurodevelopment is altered in Huntington’s disease,” said neurobiologist Mahmoud Pouladi of the National University of Singapore, who led the organoid work. If so, then if scientists discover a way to repair the mutant gene or remove the aberrant molecules it makes, “the earlier you intervene the better it should be.” In contrast, today’s most-watched clinical trials in Huntington’s include only adults, often middle-aged ones, reflecting the belief that most mutation carriers can reach their 30s or beyond cerebrally unscathed. In fact, doctors and advocacy groups strongly discourage genetic testing for Huntington’s in anyone under 18, presuming there’s nothing to be gained. According to the genetic-testing guidelines from the Huntington’s Disease Society of America, “Predictive testing of minors currently has no medical benefits and the possibility for psychosocial harm and lowered self-esteem is high.” © 2019 Scientific American

Keyword: Huntingtons
Link ID: 26889 - Posted: 12.11.2019

By Jonah Engel Bromwich Pete Frates, a former college baseball player whose participation in the social media phenomenon known as the Ice Bucket Challenge helped raise more than $100 million toward fighting amyotrophic lateral sclerosis, commonly known as A.L.S. or Lou Gehrig’s disease, died on Monday at his home in Beverly, Mass. He was 34. His death was announced in a statement by Boston College, his alma mater. Quoting his family, it said he died “after a heroic battle with A.L.S.” Mr. Frates learned he had the disease in 2012. A.L.S. attacks the body’s nerve cells and leads to full paralysis. Patients are typically expected to live for two to five years from the time of diagnosis. Mr. Frates did not create the Ice Bucket Challenge, in which participants dumped buckets of ice water over their heads while pledging to donate money to fight A.L.S. But a Facebook video in July 2014 showing him doing his version of the challenge — in which he bobbed his head to Vanilla Ice’s song “Ice Ice Baby” — prompted a surge in participation that summer, to where it became a viral sensation. LeBron James, Bill Gates, Oprah Winfrey and other celebrities stepped forward to be drenched, and millions of others followed suit. Mr. Frates became one of the most visible supporters of the effort, and in August 2014 he completed the challenge again (this time with ice water) at Fenway Park, along with members of the Boston Red Sox organization. The videos were inescapable for anyone on Facebook, and the A.L.S. Association, a Washington-based nonprofit that works to fight the disease, received more than $115 million. In 2015 the organization released an infographic showing how those funds were being spent. About $77 million, or 67 percent, of the money was used for research that ultimately identified the NEK1 gene, which contributes to the disease. The finding gave scientists guidance in developing treatment drugs. © 2019 The New York Times Company

Keyword: ALS-Lou Gehrig's Disease
Link ID: 26885 - Posted: 12.10.2019

By Denise Grady A lifelong swimmer leapt into deep water near his lakeside home, and was horrified to find himself completely unable to swim. Had his wife not rescued him, he might have drowned. He had recently received an electronic brain implant to control tremors and other symptoms of Parkinson’s disease, and somehow the signals from the device had knocked out his ability to coordinate his arms and legs for swimming. He was one of nine patients, all good swimmers despite having Parkinson’s, who had the same strange, dangerous side effect from deep brain stimulators. Three of them tried turning off the stimulators, and immediately could swim again, according to an article in the journal Neurology by a medical team from the University of Zurich. At first, doctors thought the case of the man in the lake was an isolated event, Dr. Christian R. Baumann, an author of the paper, said in an interview. But when the same thing happened to another patient, one who had been a competitive swimmer, Dr. Baumann and his colleagues began to ask other patients about swimming. They found seven more cases among about 250 patients. About 150,000 people worldwide have brain implants made by Medtronic, the leading manufacturer, the company said. Most had the implants for relief of Parkinson’s symptoms. The swimming problem is not that common Dr. Baumann said, adding: “I think it’s a minority of patients. We find many who are still wonderfully able to swim and we don’t know why. We have no clue. They are treated in the same region of the brain. But this is life-threatening, and we need to pay more attention in the future.” Now, Dr. Baumann warns all patients with stimulators never to go into deep water alone. © 2019 The New York Times Company

Keyword: Parkinsons
Link ID: 26860 - Posted: 11.29.2019

Catherine Offord A clinical trial of a gene therapy for Duchenne muscular dystrophy has been halted after a patient suffered serious side effects following treatment, Reuters reports today (November 12). After receiving Solid Biosciences’s experimental therapy, SGT-001, the patient experienced kidney injury and drops in red blood cell count, leading the US Food and Drug Administration (FDA) to place the study on hold. “We are encouraged that this patient is recovering,” Ilan Ganot, Solid Biosciences’s CEO, president, and cofounder, says in a statement. “In the coming weeks, we anticipate that we will have a better understanding of the biological activity and potential benefit of SGT-001. We look forward to sharing this additional data and working with the FDA to resolve the clinical hold and determining next steps for the program.” SGT-001 has been administered to six people so far, and involves the transfer of an engineered version of the dystrophin gene DMD, which is dysfunctional in people with Duchenne muscular dystrophy, using an adeno-associated virus (AAV) as a vector. Sarepta Therapeutics, Pfizer, and other biopharmaceutical companies are investigating similar approaches to treat the condition, although the choice of AAV varies. See “Positive Trial Results for Experimental DMD Gene Therapy” This isn’t the first time Solid Biosciences’s trial of SGT-001 has been put on hold. Early last year, the FDA halted the same study after a patient receiving a low dose of the therapy experienced a drop in red blood cell count and had to be hospitalized. The company was allowed to resume the trial last June after making changes to the study design. © 1986–2019 The Scientist

Keyword: Movement Disorders; Muscles
Link ID: 26816 - Posted: 11.14.2019

Nicole Ireland · Recent video from Thailand showing paralyzed Humboldt Broncos hockey player Ryan Straschnitzki moving his legs after an electrical stimulation device was surgically implanted in his spine has sparked excitement — as well as questions — about therapies available to Canadians with spinal injuries. The procedure Straschnitzki, 20, had is called epidural stimulation, and although promising, it's still highly experimental, experts in both Canada and the U.S. say. It's in early stages of clinical trials in the U.S. and Europe to evaluate the safety and effectiveness of restoring physical abilities — from bowel and bladder function to moving arms and legs — to people who desperately want to get some normalcy back after spinal injury. Barry Munro understands all too well why people's immediate reaction is to ask why they can't try the procedure here in Canada. He's been hoping for — and working toward — finding a cure for spinal cord injury ever since he dove into a lake in his 20s and was left quadriplegic. Now 55, Munro is chief development officer for the Canadian Spinal Research Organization and works with the North American Spinal Injury Consortium. For more than 30 years, he's seen the headlines come and go, inciting hope that a cure is on the horizon. "I've been down this road before," Munro told CBC News. "I really, really believe in finding a cure and believe it will happen and I have that hope. But — there's a big but — we have to be careful." Milos Popovich, director of the KITE Research Institute at the University Health Network's Toronto Rehabilitation Institute, echoes that need to proceed with caution. He said that epidural stimulation must proceed through many more stages of scientifically sound clinical trials to prove it works before it could be made available as a therapy in Canada. ©2019 CBC/Radio-Canada.

Keyword: Regeneration; Movement Disorders
Link ID: 26810 - Posted: 11.11.2019