Chapter 11. Motor Control and Plasticity
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By Dina Fine Maron All eyes were on Perry Cohen when he froze at the microphone. His voice failed him. He couldn’t read his notes. Eventually, the once-powerful Parkinson’s disease speaker had to be helped off the stage halfway through his speech. That was in February 2012, but the memory of that day is emblazoned in his mind. “It was the adrenaline and the pressure of speaking — it drained all the dopamine out,” Cohen says, referring to the brain chemical that is found lacking in the neurodegenerative disorder. “That’s why my symptoms got worse.” When Cohen learned he had Parkinson’s disease 17 years ago his symptoms were subtle. In the past couple years, however, the deterioration of his nervous system has become increasingly obvious, ultimately threatening to silence one of the most prominent voices in the Parkinson’s patient community. Cohen is now first in line to try a novel treatment he hopes will halt or even reverse the symptoms of his Parkinson’s disease. Two months ago he became the inaugural patient to undergo a gene therapy treatment led by the National Institutes of Health. The trial attempts to devise an intervention for Parkinson’s disease at the root of the problem: protecting dopamine in the brain. Researchers in this trial are attempting to surgically deliver a gene into the body that will make a natural protein to protect dopaminergic neurons, the brain cells attacked by the disease. To date no Parkinson’s treatment is geared toward reversing the progression of Parkinson’s disease. © 2013 Scientific American
Recycling is not only good for the environment, it’s good for the brain. A study using rat cells indicates that quickly clearing out defective proteins in the brain may prevent loss of brain cells. Results of a study in Nature Chemical Biology suggest that the speed at which damaged proteins are cleared from neurons may affect cell survival and may explain why some cells are targeted for death in neurodegenerative disorders. The research was supported by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health. One of the mysteries surrounding neurodegenerative diseases is why some nerve cells are marked for destruction whereas their neighbors are spared. It is especially puzzling because the protein thought to be responsible for cell death is found throughout the brain in many of these diseases, yet only certain brain areas or cell types are affected. In Huntington’s disease and many other neurodegenerative disorders, proteins that are misfolded (have abnormal shapes), accumulate inside and around neurons and are thought to damage and kill nearby brain cells. Normally, cells sense the presence of malformed proteins and clear them away before they do any damage. This is regulated by a process called proteostasis, which the cell uses to control protein levels and quality. In the study, Andrey S. Tsvetkov and his colleagues showed that differences in the rate of proteostasis may be the clue to understanding why certain nerve cells die in Huntington’s, a genetic brain disorder that leads to uncontrolled movements and death.
Link ID: 18403 - Posted: 07.23.2013
By Melinda Wenner Moyer Many studies over the past decade have pointed to pesticides as a potential cause of Parkinson's disease, a neurodegenerative condition that impairs motor function and afflicts a million Americans. Yet scientists have not had a good idea of how these chemicals harm the brain. A recent study suggests a possible answer: pesticides may inhibit a biochemical pathway that normally protects dopaminergic neurons, the brain cells selectively attacked by the disease. Preliminary research also indicates that this pathway plays a role in Parkinson's even when pesticides are not involved, providing an exciting new target for drug development. Past studies have shown that a pesticide called benomyl, which lingers in the environment despite having been banned in the U.S. in 2001 because of health concerns, inhibits the chemical activity of aldehyde dehydrogenase (ALDH) in the liver. Researchers at the University of California, Los Angeles, U.C. Berkeley, the California Institute of Technology and the Greater Los Angeles Veterans Affairs Medical Center wondered whether the pesticide might also affect levels of ALDH in the brain. ALDH's job is to break down DOPAL, a naturally forming toxic chemical, rendering it harmless. To find out, the researchers exposed different types of human brain cells—and, later, whole zebra fish—to benomyl. They found that it “killed almost half of the dopamine neurons while leaving all other neurons tested intact,” according to lead author and U.C.L.A. neurologist Jeff Bronstein. When they zeroed in on the affected cells, they confirmed that the benomyl was indeed inhibiting the activity of ALDH, which in turn spurred the toxic accumulation of DOPAL. Interestingly, when the scientists lowered DOPAL levels using a different technique, benomyl did not harm the dopamine neurons, a finding that suggests that the pesticide kills these neurons specifically because it allows DOPAL to build up. © 2013 Scientific American,
Here’s yet another reason to get off the couch: new research findings suggest that regularly breaking a sweat may lower the risk of having a stroke. A stroke can occur when a blood vessel in the brain gets blocked. As a result, nearby brain cells will die after not getting enough oxygen and other nutrients. A number of risk factors for stroke have been identified, including smoking, high blood pressure, diabetes and being inactive. For this study, published in the journal Stroke, Michelle N. McDonnell, Ph.D., from the University of South Australia, Adelaide and her colleagues obtained data from the Reasons for Geographic and Racial Differences in Stroke (REGARDS) study. REGARDS is a large, long-term study funded by the NIH National Institute of Neurological Disorders and Stroke (NINDS) to look at the reasons behind the higher rates of stroke mortality among African-Americans and other residents living in the Southeastern United States. “Epidemiological studies such as REGARDS provide an important opportunity to explore race, genetics, environmental, and lifestyle choices as stroke risk factors,” said Claudia Moy, Ph.D., program director at NINDS. Over 30,000 participants supplied their medical history over the phone. The researchers also visited them to obtain health measures such as body mass index and blood pressure. At the beginning of the study, the researchers asked participants how many times per week they exercised vigorously enough to work up a sweat. The researchers contacted participants every six months to see if they had experienced a stroke or a mini-stroke known as a transient ischemic attack (TIA). To confirm their responses, the researchers reviewed participants’ medical records.
Link ID: 18393 - Posted: 07.20.2013
By GRETCHEN REYNOLDS Two newly published studies investigate the enticing possibility that we might one day be able to gain the benefits of exercise by downing a pill, rather than by actually sweating. But while some of the research holds out promise for an effective workout pill, there remains the question of whether such a move is wise. The more encouraging of the new studies, which appears this week in Nature Medicine, expands on a major study published last year in Nature. In that study, researchers at the Scripps Research Institute in Jupiter, Fla., reported that a compound they had created and injected into obese mice increased activation of a protein called REV-ERB, which is known to partially control animals’ circadian rhythms and internal biological clocks. The injected animals lost weight, even on a high-fat diet, and improved their cholesterol profiles. Unexpectedly, the treated mice also began using more oxygen throughout the day and expending about 5 percent more energy than untreated mice, even though they were not moving about more than the other animals. In fact, in most cases, they were more physically lazy and inactive than they had been before the injections. The drug, it seemed, was providing them with a workout, minus the effort. Intrigued, the Scripps scientists, in conjunction with researchers from the Pasteur Institute in France and other institutions, set out to see what their compound might be doing inside muscles to provide this ersatz exercise. They knew that their drug increased the potency of the REV-ERB protein, but no one yet knew what REV-ERB actually does in muscles. So they began by developing a strain of mice that could not express very much of the protein in their muscle cells. Copyright 2013 The New York Times Company
Link ID: 18384 - Posted: 07.18.2013
It only takes one bad apple to spoil the bunch, and the same may be true of certain proteins in the brain. Studies have suggested that just one rogue protein (in this case, a protein that is misfolded or shaped the wrong way) can act as a seed, leading to the misfolding of nearby proteins. According to an NIH-funded study, various forms of these seeds — originating from the same protein — may lead to different patterns of misfolding that result in neurological disorders with unique sets of symptoms. “This study has important implications for Parkinson’s disease and other neurodegenerative disorders,” said National Institute of Neurological Disorders and Stroke (NINDS) Director Story Landis, Ph.D. “We know that among patients with Parkinson’s disease, there are variations in the way that the disorder affects the brains. This exciting new research provides a potential explanation for why those differences occur.” An example of such a protein is alpha-synuclein, which can accumulate in brain cells, causing synucleinopathies, multiple system atrophy, Parkinson’s disease, Parkinson’s disease with dementia (PDD), and dementia with Lewy bodies (DLB). In addition, misfolded proteins other than alpha-synuclein sometimes aggregate, or accumulate, in the same brains. For example, tau protein collects into aggregates called tangles, which are the hallmark of Alzheimer’s disease and are often found in PDD and DLB brains. Findings from this study raise the possibility that different structural shapes, or strains, of alpha-synuclein may contribute to the co-occurrence of synuclein and tau accumulations in PDD or DLB.
Brendan Maher Hugh Rienhoff says that his nine-year-old daughter, Bea, is “a fire cracker”, “a tomboy” and “a very sassy, impudent girl”. But in a forthcoming research paper, he uses rather different terms, describing her hypertelorism (wide spacing between the eyes) and bifid uvula (a cleft in the tissue that hangs from the back of the palate). Both are probably features of a genetic syndrome that Rienhoff has obsessed over since soon after Bea’s birth in 2003. Unable to put on much muscle mass, Bea wears braces on her skinny legs to steady her on her curled feet. She is otherwise healthy, but Rienhoff has long worried that his daughter’s condition might come with serious heart problems. Rienhoff, a biotech entrepreneur in San Carlos, California, who had trained as a clinical geneticist in the 1980s, went from doctor to doctor looking for a diagnosis. He bought lab equipment so that he could study his daughter’s DNA himself — and in the process, he became a symbol for the do-it-yourself biology movement, and a trailblazer in using DNA technologies to diagnose a rare disease (see Nature 449, 773–776; 2007). “Talk about personal genomics,” says Gary Schroth, a research and development director at the genome-sequencing company Illumina in San Diego, California, who has helped Rienhoff in his search for clues. “It doesn’t get any more personal than trying to figure out what’s wrong with your own kid.” Now nearly a decade into his quest, Rienhoff has arrived at an answer. Through the partial-genome sequencing of his entire family, he and a group of collaborators have found a mutation in the gene that encodes transforming growth factor-β3 (TGF-β3). Genes in the TGF-β pathway control embryogenesis, cell differentiation and cell death, and mutations in several related genes have been associated with Marfan syndrome and Loeys–Dietz syndrome, both of which have symptomatic overlap with Bea’s condition. The mutation, which has not been connected to any disease before, seems to be responsible for Bea’s clinical features, according to a paper to be published in the American Journal of Medical Genetics. © 2013 Nature Publishing Group,
Sid Perkins Sporting feats such as baseball's 100-mile-per-hour fastball are made possible by a suite of anatomical features that appeared in our hominin ancestors about 2 million years ago, a video study of college athletes suggests. And this ability to throw projectiles may have been crucial for human hunting, which in turn may have had a vital role in our evolution. “Throwing projectiles probably enabled our ancestors to effectively and safely kill big game,” says Neil Roach, a biological anthropologist at George Washington University in Washington DC, who led the work. Eating more calorie-rich meat and fat would have helped early hominins' brains and bodies to grow, enabling our ancestors to expand into new regions of the world, he suggests. The study is published today in Nature1. Although some primates occasionally throw objects, and with a fair degree of accuracy, only humans can routinely hurl projectiles with both speed and accuracy, says Roach. Adult male chimpanzees can throw objects at speeds of around 30 kilometres per hour, but even a 12-year-old human can pitch a baseball three times faster than that, he notes. In fact, the quickest motion that the human body produces — rotation of the humerus, the long bone in the upper arm, at a rate that is briefly equivalent to 25 full rotations in a single second — occurs while a person is throwing a projectile. © 2013 Nature Publishing Group,
By Meghan Rosen Paralyzed rats can now decide for themselves when it’s time to take a leak. Animals in a new study regained bladder control thanks to a new treatment that coaxes severed nerves to grow. Instead of dribbling out urine, the rodents squeezed out shots of pee almost as well as healthy rats do, researchers report June 25 in the Journal of Neuroscience. The study is the first to regenerate nerves that restore bladder function in animals with severely injured spinal cords. “This is a very big deal,” says neurologist John McDonald of the Kennedy Krieger Institute in Baltimore, Md. If the treatment works in people with spinal cord injuries, he says, “it would change their lives.” Unlike paralyzed rats, severely paralyzed humans can’t leak urine to relieve a full bladder. Unless injured people are fitted with a catheter, urine backs up into the kidneys. “These people get kidney failure all the time,” says study leader Jerry Silver, a neuroscientist at Case Western Reserve University in Cleveland. “It’s a terrible problem. If they didn’t have the catheter, they would die.” Some of the worst spinal cord injuries sever the bundle of nerve cells that reach from a mammal’s brain down through the vertebrae. The neurons can’t just grow back. Instead, the cells’ stumps get stuck in a gummy thicket of scar tissue that forms around the wound. © Society for Science & the Public 2000 - 2013
by Mara Hvistendahl and Martin Enserink A mysterious group of viruses known for their circular genome has been detected in patients with severe disease on two continents. In papers published independently this week, researchers report the discovery of agents called cycloviruses in Vietnam and in Malawi. The studies suggest that the viruses—one of which also widely circulates in animals in Vietnam—could be involved in brain inflammation and paraplegia, but further studies are needed to confirm a causative link. The discovery in Vietnam grew out of a frustrating lack of information about the causes of some central nervous system (CNS) infections such as encephalitis and meningitis, which can be fatal or leave lasting damage. "There are a lot of severe cases in the hospitals here, and very often we can't come to a diagnosis," says H. Rogier van Doorn, a clinical virologist with the Oxford University Clinical Research Unit in the Hospital for Tropical Diseases, Ho Chi Minh City. Extensive diagnostic tests turn up pathogens in only about half of patients with such infections, he says. Van Doorn and colleagues in Vietnam and at the University of Amsterdam's Academic Medical Center hoped that they might uncover new pathogens using a powerful new technique called next-generation sequencing. The group sequenced all the genetic material in cerebrospinal fluid (CSF) samples taken from more than 100 patients with undiagnosed CNS infections. One sample batch returned a promising lead: a viral sequence belonging to the Circoviridae family. © 2010 American Association for the Advancement of Science
Keyword: Movement Disorders
Link ID: 18311 - Posted: 06.25.2013
The paralyzing syndrome Guillain-Barré syndrome isn't linked to receiving common vaccines, according to a U.S. study. Concerns about the association of Guillain-Barré syndrome with vaccines have "flourished" since there was a hint of an increased risk after the 1976 swine flu vaccine campaign. It hasn’t been clearly linked since then. The syndrome is an acute inflammatory disease that results in destruction of a nerve’s myelin sheath and some nerves, which in severe cases can progress to complete paralysis and even death. Researchers from the U.S. Centers for Disease Control and Prevention and Kaiser Permanente Vaccine Study Center in Oakland, Calif. looked back at cases of GBS over 13 years in the state that were confirmed by a neurologist who reviewed the medical records. In the 13-year study period 415 patients were confirmed with GBS only 25 had received a vaccine within six weeks before onset of the disease. "In summary, this study did not find any association between influenza vaccine or any other vaccine and development of GBS within six weeks following vaccination," Dr. Roger Baxter, co-director of the Kaiser Permanente Vaccine Study Center and his co-authors concluded in Monday's online issue of Clinical Infectious Diseases. © CBC 2013
By Amy Mathews Amos, My symptoms started in January 2008, with deep pain in my bladder and the sense that I had to urinate constantly. I was given a diagnosis of interstitial cystitis, a chronic bladder condition with no known cure. But in the following months, pain spread to my thighs, knees, hips, buttocks, abdomen and back. By the time my condition was properly diagnosed three years later, I had seen two urogynecologists, three orthopedists, six physical therapists, two manual therapists, a rheumatologist, a neurologist, a chiropractor and a homeopath. What was wrong? Something completely unexpected, given my symptoms: myofascial pain syndrome, a condition caused by muscle fibers that contract but don’t release. That constant contraction creates knots of taut muscle, or trigger points, that send pain throughout the body, even to parts that are perfectly healthy. Most doctors have never heard of myofascial pain syndrome and few know how to treat it. In my case, trigger points in my pelvic floor — the bowl of muscle on the bottom of the pelvis — referred pain to my bladder. Points along my thighs pulled on my knee joints, creating sharp pain when I walked. Points in my hips, buttocks and abdomen threw my pelvis and lower spine out of alignment, pushing even more pain up my back. The pain was so severe at times that I could sit for only brief periods. “Why didn’t anybody know this?” I asked my doctor, Timothy Taylor, soon after he correctly diagnosed the reason for my pain. “Because doctors don’t specialize in muscles,” he said. “It’s the forgotten organ.” © 1996-2013 The Washington Post
By E. Paul Zehr As an infant, the Man Of Steel escaped Krypton’s red sun in a rocket lovingly prepared for him by his parents. Kal-L (but more commonly known as Kal-El) arrived under our yellow sun in Smallville to eventually become Clark Kent. Since his debut in Action Comics #1 in June of 1938, Superman has accumulated a pretty long list of “super abilities”. For me, though, I really like the list of his abilities that come from the 1940s radio serials. This was back when Superman was described as “faster than a speeding bullet, more powerful than a locomotive, and able to leap tall buildings in a single bound”. These descriptions all have to do with super-strength when you get right down to it. And with this summer’s “Man of Steel” Superman re-boot, super-strength is the focus of this post. I have to admit I’ve always found the explanation for Superman’s powers to be, well, a bit dubious. He has his powers because of our yellow sun. That is, because he was from a red sun planet (Krypton) somehow the yellow sun of Earth unleashes some inner super power mechanism that gives Superman all his…super-ness. Of course it’s a bit pure escapist fun. But what if there actually was something to that, though? I don’t mean something to the “yellow sun / red sun” stuff. You can just check in with our “friendly neighborhood physics” professor Jim Kakalios and his bok “Physics of Superheroes” for the real deal on that one. I mean rather the unleashing of some inner mechanism bit. What if something inside the human body could be unleashed—like removing the shackles from Hercules—and allow for dramatically increased strength? © 2013 Scientific American
by Trisha Gura A rare genetic disease may be going to the dogs. About six in 100,000 babies are born with centronuclear myopathy, which weakens skeletal muscles so severely that children have trouble eating and breathing and often die before age 18. Now, by discovering a very similar condition in canines, researchers have a means to diagnose the disease, unravel its molecular intricacies, and target new therapies. The story began when Jocelyn Laporte, a geneticist at the Institute of Genetics and Molecular and Cellular Biology in Strasbourg, France, uncovered the genetic roots of an odd form of centronuclear myopathy that showed up in a Turkish family. Three children, two of them fraternal twins, were born normal. Then, at the age of 3-and-a-half, they grew progressively and rapidly ill. (Most forms of the illness do not come on so suddenly.) The twins died by the age of 9. Their younger brother recently reached the same age but is very ill. Investigators traced the problem to a mutation in a gene called BIN1, which makes a protein that helps shape the muscle so that it can respond to nerve signals that initiate muscle contraction. To find out how mutations in this gene could lead to such dire consequences, other researchers tried to genetically engineer mice models. But deleting the BIN1 gene failed to recreate the disease in mice, so the researchers had to look elsewhere. Laporte's team joined with geneticist and veterinarian Laurent Tiret, at the Alfort School of Veterinary Medicine in Paris, to tap a network of vets in the United States, United Kingdom, Canada, Australia, and France. The idea was to track down and analyze dogs that had spontaneously acquired a similar condition. Because of their longer lifespans and larger size, the canines could model how the disease progresses and might respond to new therapies. © 2010 American Association for the Advancement of Science
by Alyssa Danigelis Next time you happen across an enormous cockroach, check to see whether it’s got a backpack on. Then look for the person controlling its movements with a phone. The RoboRoach has arrived. The RoboRoach is a system created by University of Michigan grads who have backgrounds in neuroscience, Greg Gage and Tim Marzullo. They came up with the cyborg roach idea as part of an effort to show students what real brain spiking activity looks like using off-the-shelf electronics. Essentially the RoboRoach involves taking a real live cockroach, putting it under anesthesia and placing wires in its antenna. Then the cockroach is outfitted with a special lightweight little backpack Gage and Marzullo developed that sends pulses to the antenna, causing the neurons to fire and the roach to think there’s a wall on one side. So it turns. The backpack connects to a phone via Bluetooth, enabling a human user to steer the cockroach through an app. Why? Why would anyone do this? ”We want to create neural interfaces that the general public can use,” the scientists say in a video. “Typically, to understand how these hardware devices and biological interfaces work, you’d have to go to graduate school in a neuro-engineering lab.” They added that the product is a learning tool, not a toy, and through it they hope to start a neuro-revolution. Currently the duo’s Backyard Brains startup is raising money through a Kickstarter campaign to develop more fine-tuned prototypes, make them more affordable, and extend battery life. The startup says it will make the RoboRoach hardware by hand in an Ann Arbor hacker space. © 2013 Discovery Communications, LLC
Link ID: 18264 - Posted: 06.12.2013
By Melissa Hogenboom Science reporter, BBC News Activity observed in the brain when using a "mind machine" is similar to how the brain learns new motor skills, scientists have found. Participants' neural activity was recorded by using sensors implanted in their brain, which were linked to a computer that translated electrical impulses into actions. The researchers believe people will be able to perform increasingly complex tasks just by thinking them. The study is published in PNAS journal. The subjects in the study moved from thinking about a task to automatically processing a task, in a similar way to how other motor movements are learnt - like playing the piano or learning to ride a bicycle. This was shown by the areas of neurons that were active in the brain, which changed as subjects became more adept at a mental task. Scientists analysed the results of a mind control task on a brain-computer interface (BCI) of seven participants with epilepsy. They were asked to play a computer game where they had to manipulate a ball to move across a screen - using only their mind. Recent studies using BCIs have shown that our minds can control various objects, like a robotic arm, "but there is still a lot of mystery in the way we learn to control them", said Jeremiah Wander from the University of Washington in Seattle, US, who led the study. BBC © 2013
Link ID: 18255 - Posted: 06.11.2013
Devin Powell A model helicopter can now be steered through an obstacle course by thought alone, researchers report today in the Journal of Neural Engineering. The aircraft's pilot operates it remotely using a cap of electrodes to detect brainwaves that are translated into commands.1 Ultimately, the developers of the mind-controlled copter hope to adapt their technology for directing artificial robotic limbs and other medical devices. Today's best neural prosthetics require electrodes to be implanted in the body and are thus reserved for quadriplegics and others with disabilities severe enough justify invasive surgery. "We want to develop something non-invasive that can benefit lots of people, not just a limited number of patients," says Bin He, a biomedical engineer at the University of Minnesota in Minneapolis, whose new results build on his previous work with a virtual thought-controlled helicopter.2 But He's mechanical whirlybird isn't the first vehicle to be flown by the brain. In 2010 a team at the University of Illinois at Urbana-Champaign reported an unmanned aircraft that flies a fixed altitude but adjusts its heading to the left or right in response to a user's thoughts.3 The new chopper goes a step further. It can be guided up and down, as well as left or right, and it offers more precise control. To move it in a particular direction, a user imagines clenching his or her hands — the left one to go left, for instance, or both to go up. That mental image alters brain activity in the motor cortex. Changes in the strength and frequency of signals recorded by electrodes on the scalp using electroencephalography (EEG), and deciphered by a computer program, reveal the pilot's intent. © 2013 Nature Publishing Group
Link ID: 18231 - Posted: 06.05.2013
by Helen Thomson TWO years ago, Antonio Melillo was in a car crash that completely severed his spinal cord. He has not been able to move or feel his legs since. And yet here I am, in a lab at the Santa Lucia Foundation hospital in Rome, Italy, watching him walk. Melillo is one of the first people with lower limb paralysis to try out MindWalker – the world's first exoskeleton that aims to enable paralysed and locked-in people to walk using only their mind. Five people have been involved in the clinical trial of MindWalker over the past eight weeks. The trial culminates this week with a review by the European Commission, which funded the work. It's the end of a three-year development period for the project, which has three main elements. There is the exoskeleton itself, a contraption that holds a person's body weight and moves their legs when instructed. People learn how to use it in the second element: a virtual-reality environment. And then there's the mind-reading component. Over in the corner of the lab, Thomas Hoellinger of the Free University of Brussels (ULB) in Belgium is wearing an EEG cap, which measures electrical activity at various points across his scalp. There are several ways he can use it to control the exoskeleton through thought alone – at the moment, the most promising involves wearing a pair of glasses with flickering diodes attached to each lens. © Copyright Reed Business Information Ltd.
Link ID: 18227 - Posted: 06.04.2013
Linda Carroll TODAY contributor Each day brings Jenn McNary another dose of hope and heartache as she watches one son get healthier while the other becomes sicker. Both of McNary's sons were born with Duchene muscular dystrophy. Max, 11, is receiving an experimental therapy that appears to be making him better, while 14-year-old Austin is slowly dying. Austin was too sick to be included in the clinical trials for a promising new drug called Eteplirsen. “He can’t get into a chair, out of his wheelchair, into his bed and onto the toilet,” McNary told NBC’s Janet Shamlian. Max, however, was exactly what researchers were looking for. He was put on Eteplirsen, and now he's back to running around, climbing stairs and even playing soccer. “It’s a miracle,” McNary said. “It really is a miracle drug. This is something that nobody ever expected and he looks like an almost normal 11-year-old.” Eteplirsen is designed to partially repair one of the common genetic mutations that causes DMD. Even a partial repair may enough to improve life for boys struck by the condition, which results from a defect in the dystrophin gene. That gene resides on the X chromosome, which is why only boys end up with DMD. Boys get one X and one Y chromosome. Girls get two copies of the X chromosome — one from their mother and one from their father — so even if they inherit a defective copy from their mom, they get a healthy one from their dad. Although they won’t suffer symptoms, girls wind up with a 50 percent chance of being carriers for DMD.
By ALLISON HERSH LONDON I’M in line at the supermarket holding three items close to my chest. But I might as well be juggling my Kleenex box, toothpaste tube and an orange. Because — as you’d surely notice if you were behind me in line — I‘m bent forward at a sharp angle, which makes holding things difficult. I know you don’t want to stare, but you do. Maybe you think you’re being considerate when you say, apropos of nothing, “You look like you’re in pain.” Well, thanks, I am — but I’ll resist replying the way I want (“You look like you’re having a bad hair day”). I’m sorry. I know you mean well. Anyway it’s my turn at the register which means I’m closer to being at home where I can lie down and wait for the spasms to subside. Besides, if I told you what my issue was, you would probably shrug and reply that you’d never heard of it. There aren’t any public service announcements about it or telethons. No Angelina Jolies to bravely inform the world. Just people like me, in supermarket checkout lines. And this, I realize, is at the core of a problem that extends beyond me and my condition and that affects the way all of us respond to illnesses, some of which are the subject of public attention — and resources — and some of which are not. I have dystonia, a neurological disorder. Some years ago, for reasons no one knows, the muscles in my back and neck began to spasm involuntarily; the spasms multiply quickly, fatigue the muscles and force the body into repetitive movements and awkward postures like mine. There is no cure, only treatment options like deep brain stimulation, which requires a surgery I underwent last year as a last resort. © 2013 The New York Times Company