By Laura Sanders When a woman born without limbs watches someone else sew, copycat regions in her brain activate even though she can’t hold a needle herself. Additional brain regions also lend support, demonstrating how flexible the brain is when it comes to observing and understanding the actions of others. Scientists have known for over a decade about the mirror system, a network of brain regions usually activated by watching and performing an action. But just how the brain smoothly and quickly intuits what other people are doing, particularly when the action isn’t something the observer can do, has been unclear, says study coauthor Lisa Aziz-Zadeh of the University of Southern California in Los Angeles. In the study, a middle-aged, healthy woman born with no arms and legs underwent brain scans as she watched videos of people performing actions such as holding and eating an apple slice, sewing with a needle and tapping a finger. Actions that the woman was capable of performing herself activated the mirror system, including parts of the brain that control movement. Mirror areas kicked in even for tasks the woman accomplishes in a different way, such as picking up food using her mouth instead of hands. (The participant had prosthetics briefly as a teenager but hadn’t used them in the past 40 years.) When the woman witnessed actions that were impossible for her, such as using scissors, her brain’s mirror system still kicked in, but additional brain regions were recruited to help. These extra regions aren’t normally needed when people watch a task they’re able to perform, the researchers write in an upcoming Cerebral Cortex. These regions are thought to be involved in a process called “mentalizing,” in which a person tries to understand what someone else is thinking. © Society for Science & the Public 2000 - 2011

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 10: Vision: From Eye to Brain
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 7: Vision: From Eye to Brain
Link ID: 15564 - Posted: 07.16.2011

By LISA SANDERS, M.D. Symptoms A healthy 10-year-old girl told her mother that she was losing a lot of hair when she showered. Her mother didn’t give it much thought, until one morning when she saw for herself how much hair remained on her hands after making a ponytail for her daughter. Looking at her child’s head in the sunlight later that morning, the mother thought that maybe her hair was thinning. She took her to see Dr. Kathryn Italia, their pediatrician in Exton, a suburb of Philadelphia, that afternoon. The Exam Although the child seemed well, the doctor was concerned. The girl’s mother, who had two other children, was not a big worrier. There were no other symptoms, but the mother reported that her daughter might have been a little more tired lately. Italia examined the child but found nothing unusual. Possible Diagnoses Thyroid disease: Can cause hair loss and fatigue. Lupus and other immune-system diseases: Can also cause hair loss. Metabolic disease: Can disrupt any of the multiple processes the body uses to get energy from food. Testing of blood, kidneys and liver will often reveal its presence. Results All tests were unremarkable except for two enzymes (ALT and AST) that signal liver injury and were four times higher than normal. The Follow-Up Italia ordered an ultrasound of the liver and a repeat of the liver-function tests. (A mild viral infection can frequently cause a transient elevation in these enzymes.) Additional tests looked for other common infections and diseases that can cause abnormal liver enzymes in children: Epstein-Barr virus (the infectious cause of mononucleosis); viral hepatitis; celiac disease, a disorder in which the immune system attacks the small intestine in response to a food component known as gluten. Results The tests revealed that only the liver enzymes were abnormal. © 2011 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 15198 - Posted: 04.09.2011

By KAREN BARROW It is classified as a rare disease, but the chronic condition called Charcot-Marie-Tooth is one of the most common inherited nerve-related disorders, with an estimated 150,000 patients in the United States. It can be devastating to patients and their families, with crippling effects on balance and the ability to walk and grasp objects. Nor does it help that few people have heard of it, unless they are directly affected. “It’s like the hidden secret,” said Allison Moore, chief executive of the Hereditary Neuropathy Foundation, who has the disease. “And when you mention, ‘I have C.M.T.,’ people look at you like you have three heads.” The disease — named for Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth, the researchers who first described it in 1886 — is actually a group of neurodegenerative conditions that gradually degrade the nerves in the feet, legs, arms and hands, usually starting in childhood. There is no medical treatment, though orthopedic braces and corrective surgery can help. © 2011 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 15174 - Posted: 04.05.2011

Alison Abbott There is no cure for the group of hereditary muscle-wasting diseases known as muscular dystrophy. That is particularly alarming because one of its commonest forms — type 1 myotonic dystrophy — becomes more serious as it passes down the generations, manifesting earlier and acquiring pernicious extra symptoms, such as delays to mental development. A group of French scientists have now unravelled molecular pathways that may be responsible for some symptoms of type 1 myotonic dystrophy. They used a controversial source of material: disease-specific human embryonic stem (hES) cell lines. They hope that their results, published online today in Cell Stem Cell1, will influence a French political debate that threatens to restrict such work. The French Senate will vote on the issue on 5 April, in the first reading of new legislation to update the country's bioethics law (see France mulls embryo research reform). Type 1 myotonic dystrophy results from a defect in just one gene — dystrophia myotonica-protein kinase (DMPK) — but that damage affects the expression of other healthy genes. The team of researchers, led by Cécile Martinat, a geneticist at the Institute for Stem Cell Therapy in Evry, identified two such genes that are suppressed in the disease. They showed that the suppression prevented neurons from efficiently building connections with muscle cells. Unlike in most genetic diseases, the damaged DMPK gene is not mutated. Instead, its code is interrupted by a long and unstable string of 'triplet repeats', in which three of the four nucleotides that make up DNA repeat themselves more than fifty times. The string of repeats tends to get longer with each generation. © 2011 Nature Publishing Group

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 4: Development of the Brain
Link ID: 15163 - Posted: 04.02.2011

by Helen Thomson Too much of it will make you go blind – or so you might have been told. But for some, masturbation might have a real clinical benefit: it can ease restless leg syndrome (RLS). The insight could provide sweet relief for the 7 to 10 per cent of people in the US and Europe who suffer from the condition. RLS is a distressing neurologic disorder characterised by an urge to move the legs. It is usually associated with unpleasant sensations in the lower limbs such as tingling, aching and itching. The exact causes of RSL have yet to be pinpointed, but brain autopsies and imaging studies suggest one contributing factor is an imbalance of dopamine – a hormonal messenger that, among other things, activates the areas of the brain responsible for pleasure. It is suspected that dopamine imbalance is responsible for some of the symptoms of Parkinson's disease. Drugs that increase dopamine have been shown to reduce symptoms of RLS when taken at bedtime and are considered the initial treatment of choice. Although such drugs provided significant improvement of symptoms for a 41-year-old man with RLS, he found an even better treatment – complete relief after masturbation or sex. Luis Marin and colleagues at the Federal University of São Paulo, Brazil, who report on the novel treatment this month in Sleep Science, speculate that the release of orgasm-related dopamine might play a role in the alleviation of symptoms. © Copyright Reed Business Information Ltd.

Related chapters from BN: Chapter 14: Biological Rhythms, Sleep, and Dreaming; Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 10: Biological Rhythms and Sleep; Chapter 5: The Sensorimotor System
Link ID: 15162 - Posted: 04.02.2011

Scientists are closer to understanding what triggers muscle damage in one of the most common forms of muscular dystrophy, called facioscapulohumeral muscular dystrophy (FSHD). FSHD affects about 1 in 20,000 people, and is named for progressive weakness and wasting of muscles in the face, shoulders and upper arms. Although not life-threatening, the disease is disabling. The facial weakness in FSHD, for example, often leads to problems with chewing and speaking. The new research was funded in part by the National Institutes of Health and appears in the journal Science. Until now, there were few clues to the mechanism of FSHD and essentially no leads for potential therapies, beyond symptomatic treatments, said John Porter, Ph.D., a program director at NIH's National Institute of Neurological Disorders and Stroke (NINDS). "This study presents a model of the disease that ties together many complex findings, and will allow researchers to test new theories and potential new treatments," Dr. Porter said. In the early 1990s, researchers found that FSHD is associated with a shortened DNA sequence located on chromosome 4. Experts predicted that discovery of one or more FSHD genes was imminent, but while a handful of candidate genes gradually emerged, none of them were found to have a key role in the disease. The mysteries surrounding FSHD deepened in 2002 when researchers, led by Silvere van der Maarel, Ph.D., at Leiden University in the Netherlands, found that the shortened DNA sequence on chromosome 4 is not enough to cause FSHD. They discovered that the disease occurs only among people who have the shortened DNA sequence plus other sequence variations on chromosome 4. That work was funded in part by NIH, the FSH Society and the Muscular Dystrophy Association.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 14375 - Posted: 08.20.2010

by Dolly J. Krishnaswamy Seven months ago, a 51-year-old woman known only to the public as patient LI1 suffered a severe stroke and lost her ability to communicate with the outside world. She couldn't even blink her eyes. But now, thanks to a new technology, the woman can write long, emotional e-mails to her loved ones just by sniffing. Like many quadriplegics, patient LI1's stroke damaged a region high up on her spinal column, paralyzing her from the neck down. But LI1's injury was so extensive that she also lost the ability to speak. Such patients are referred to as "locked-in" because they can't communicate with the outside world, even though their brain functions normally. Some can blink to answer simple yes or no questions or even string words together by picking out letters as someone recites them (as in the case of Jean-Dominique Bauby, author of The Diving Bell and the Butterfly). But this isn't an option for Patient LI1. So neurobiologist Noam Sobel of the Weizmann Institute of Science in Rehovot, Israel, turned to sniffing. He and colleagues had been studying the human sense of smell and had developed a device, which looks like the oxygen tubes patients wear in the hospital, that releases an odor when a subject sniffs forcefully. Sobel's team soon realized that the device could be configured to respond to various types of sniffing, such as sniffing harder or softer. And that meant it could have applications for locked-in patients. "We thought you could use this sniff to control anything, " Sobel says. "You could even fly a plane." © 2010 American Association for the Advancement of Science.

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 9: Hearing, Balance, Taste, and Smell
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 6: Hearing, Balance, Taste, and Smell
Link ID: 14291 - Posted: 07.27.2010

In humans, throwing a ball, typing on a keyboard, or engaging in most other physical activities involves the coordination of numerous discrete movements that are organized as action sequences. Scientists at the National Institutes of Health and the Gulbenkian Institute in Portugal have identified brain activity in mice that can signal the initiation and termination of newly learned action sequences. The findings appear online today in the current issue of Nature. “This interesting report should advance our understanding of the neurobiology of movement disorders, and open new avenues of research for their treatment and prevention,” says Kenneth R. Warren, Ph.D., acting director of the National Institute on Alcohol Abuse and Alcoholism (NIAAA), part of the NIH. The study was conducted by Xin Jin, Ph.D. an investigator in the NIAAA Laboratory for Integrative Neuroscience, and Rui M. Costa, D.V.M, Ph.D., principal investigator of the Champalimaud Neuroscience Program at the Gulbenkian Institute. The researchers trained mice to press a lever exactly eight times to receive a sugar-water reward. As the mice learned this task, the researchers monitored brain cell activity in the animals' basal ganglia, deep brain structures that are known to help start and control movement. “We recorded activity in the dorsal striatum and substantia nigra during the learning of novel action sequences,” explained Dr. Jin. “Although previous studies have reported changes in neural activity in these areas during movement, their role in the initiation and termination of newly learned action sequences has not been explored.”

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 14280 - Posted: 07.24.2010

By JANE E. BRODY As Sandy Kamen Wisniewski remembers, her hands always shook. She hid them in long sleeves and pockets and wrote only in block letters in school because at least that was readable. The tremor became much worse as she entered her teenage years, and if she was upset or under stress, it grew so bad she cringed with embarrassment and decided that it must all be psychological. Ms. Wisniewski, now 40, was 14 when she learned that she had not an emotional disorder, but a neurological condition called essential tremor — “essential” not because she needed it, but because no underlying factor caused it. It was not a prelude to Parkinson’s disease, nor was it caused by a hormonal problem, a drug reaction or nervousness. (Many people thought that Katharine Hepburn had Parkinson’s disease, when in fact she shook because she had essential tremor, as does Terry Link, a state senator in Illinois, and Gov. Jim Gibbons of Nevada.) This disorder, which in most cases is inherited, is so misunderstood and so often misdiagnosed that Ms. Wisniewski, who lives in Libertyville, Ill., decided to write a book about it. Called “I Can’t Stop Shaking,” the book was self-published last year through Dog Ear Publishing in Indianapolis. Her intent is to help the estimated 10 million people who suffer with essential tremor, often for decades without knowing what is wrong. Copyright 2007 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 10347 - Posted: 06.24.2010

By Judy Foreman The symptoms of restless legs syndrome sound so bizarre — creepy-crawly feelings and an uncontrollable urge to move the legs, especially at bedtime — that until recently, many people who experienced it simply weren’t believed when they described it to others. Betsy Dunn, an 85-year-old Cambridge businesswoman who has had restless legs for nearly 30 years, remembers a doctor saying she must be depressed. “I walked out and never went back,’’ she says. “All I needed him to say was, ‘I don’t know what this is, but together we will find out.’ ’’ In severe cases, like that of Donald Loveland, 75, a retired Duke University computer scientist now living in Dennis, the urge to move the legs overwhelms everything else, including pain. Right after back surgery, he recalls, “it was actually painful to be up but I had to get up anyway.’’ Ron Blum, 38, a Jamaica Plain e-mail marketer who first noticed his symptoms as a 7-year-old, recalls that the minute he lay down and tried to sleep, “my left leg felt like it had to go for a walk.’’ Though he never told his parents, he’d get up and walk for hours in circles. It wasn’t until years later that a friend heard about RLS. “He called me up and said, ‘Ron, I know what you have. It has a name.’ ’’ It also has growing recognition. RLS may affect some 12 million Americans, according to the National Institute of Neurological Disorders and Stroke, as reported on the National Institutes of Health website (www.ninds.nih.gov/disorders). The NIH supports research into the condition at major medical institutions across the country, as well as within its own labs. © 2010 NY Times Co.

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 14: Biological Rhythms, Sleep, and Dreaming
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 10: Biological Rhythms and Sleep
Link ID: 14078 - Posted: 06.24.2010

by Linda Geddes "Moonwalking" mice may provide insights into the genetic causes of a rare debilitating condition called cerebellar ataxia. The illness affects the cerebellum – the part of the brain that controls movement and balance. The mice, which are engineered to express a mutated protein that causes neurons in the cerebellum to die, move backwards when they try to walk forwards on a smooth surface. The same neurons are destroyed in cerebellar ataxia, which causes unsteadiness and loss of co-ordination. Moonwalking – made famous by Michael Jackson – is a dance move where someone appears to walk forwards but actually slides backwards. The mice seem to do it because they place their feet further apart than normal as they walk, in order to maintain their balance. Humans with cerebellar ataxia have trouble coordinating their movements, although "I don't think there are any human patients out there who walk backwards," says Esther Becker of the University of Oxford, who led the study. "The million dollar question is whether mutations of this gene also occur in humans with cerebellar ataxia," says Becker, who is currently screening patients with genetic forms of the condition to find out. If they do, it could pave the way towards new treatments. © Copyright Reed Business Information Ltd.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 12704 - Posted: 06.24.2010

EAST LANSING, Mich. — A mouse created by Michigan State University scientists studying a disease thought to be a neurological disorder that weakens men has exposed two surprises: Testosterone appears to be the culprit and it’s attacking muscles, not nerves. The muscles of male mice genetically engineered in the laboratory of Cynthia Jordan, professor of neuroscience and psychology, have extra receptors that latch onto testosterone – a trick that left researchers anticipating mouse versions of bulked up body builders. Instead, these mice developed into shrunken weaklings. More significantly, their condition precisely imitated a rare human condition called Kennedy’s Disease. The results, reported in the Oct. 29 online issue of the Proceedings of the National Academy of Sciences, not only directly contradict conventional wisdom about the root of Kennedy’s Disease, but also offer significant hope. Researchers say these new results make a strong case that Kennedy’s Disease is a muscular disease rather than a neurological disease, and put testosterone in the category of cause, not cure. “When we started studying this little wimp mouse, we were surprised to find that we inadvertently created a model for Kennedy’s Disease,” Jordan said. “Our story provides some hope, because it’s an easier problem to target muscles therapeutically than the motor neurons in the spinal cord. Our sick mice get well when we take testosterone away from them.”

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 5: Hormones and the Brain
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 8: Hormones and Sex
Link ID: 10924 - Posted: 06.24.2010

ST. PAUL, MN – Treating Guillain-Barr� syndrome early may speed up the recovery time, according to a guideline developed by the American Academy of Neurology. The guideline is published in the September 23 issue of Neurology, the scientific journal of the American Academy of Neurology. Treatment should begin within two to four weeks after the first symptoms appear. Guillain-Barr� syndrome (GBS) causes rapid onset of weakness and often paralysis of the legs, arms, face and breathing muscles. It is the most common cause of rapidly acquired paralysis in the United States, affecting between one and four people in every 100,000 each year. Guillain-Barr� is an autoimmune disease in which the body’s immune system attacks the nervous system. The human body produces proteins called antibodies to fight off infections. In GBS, the body produces extra antibodies that become misdirected and attack and damage the nerves.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 4320 - Posted: 06.24.2010

St. Paul, MN – As the nation gears up for another season of West Nile virus, a new study extends the understanding of the clinical spectrum of West Nile symptoms, and points to extreme muscle weakness or paralysis as a significant cause of complications in affected patients. The study appears in the July 8 issue of Neurology, the scientific journal of the American Academy of Neurology. Detailed examination of 23 patients at the Cleveland Clinic revealed that among the earliest symptoms in 26 percent was a rash, which helped distinguish the disease from another rapid-onset paralytic disorder, Guillain-Barre syndrome. Misdiagnosis is still very common for West Nile virus, according to lead study author Lara Jeha, MD. Other early symptoms include low back pain, limb pain, and gastrointestinal complaints, typical of many viral illnesses. All patients developed fever at some point in their illness. Half the patients developed muscle weakness, which developed rapidly, over the course of three to eight days. For many patients, this progressed to involve all four limbs. In one patient, weakness remained the primary symptom even in advanced disease. Nine patients required mechanical ventilation due to weakness of the breathing muscles. Previous studies had described flaccid paralysis with West Nile virus infection, but details about the various aspects of this weakness were very limited.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 4032 - Posted: 06.24.2010

DALLAS – – Researchers from UT Southwestern Medical Center at Dallas and the Mayo Clinic have discovered a novel genetic mutation that leads to a debilitating muscle condition known as myasthenia. Myasthenia, a severe form of muscle weakness, usually results from an autoimmune attack against the nerve-muscle junction in which the nerve's communication to the muscle is broken down. In a study appearing this week in the online early edition of Proceedings of the National Academy of Sciences, researchers unveil a new cause discovered in a single patient: a genetic mutation leading to a shutdown in muscle responsiveness to the nerve's electrical impulses. "This was a surprise in that it's a totally different mechanism for a well-researched disease," said Dr. Stephen Cannon, chairman of neurology at UT Southwestern, who studied the consequences of the genetic mutation. "Until this study, every single case of myasthenia ever examined had been attributed to a reduction in what's called the safety factor of neurotransmission – or how reliably the nerve talks to the muscle."

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 3821 - Posted: 06.24.2010

An altered mouse model of Duchenne muscular dystrophy, developed to have high levels of insulin-like growth factor I (IGF-I), has shown increases in muscle mass of at least 40 percent and other changes that could herald a possible treatment for secondary symptoms of the disease in humans. The new mouse, developed with support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the Muscular Dystrophy Association, has also resulted in reduced amounts of muscle-replacing fibrous tissue and enhanced biological pathways associated with muscle regeneration. Duchenne muscular dystrophy, a genetic muscle-wasting disease caused by mutations in the gene for the protein dystrophin, results in repeated cycles of muscle damage and insufficient muscle regeneration, leading to gradual replacement of muscle by fibrous tissue. Since IGF-I is known to help regenerate muscle and enhance biological pathways for making proteins, the University of Pennsylvania's H. Lee Sweeney, M.D., and his colleagues tested its effects by creating a new mouse model – a cross between a strain with muscular dystrophy symptoms and another with high levels of IGF-I. The hybrid mouse showed not only increases in muscle mass and muscle force generation, but also reduced muscle cell death, a combination that could have significant treatment implications.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 2119 - Posted: 06.24.2010

By JANE E. BRODY “Essential” usually means vital, necessary, indispensable. But in medicine, the word can assume a different cast, meaning inherent or intrinsic, not symptomatic of anything else, lacking a known cause. Since the mid-19th century, “essential tremor” has been the diagnosis for a disorder of uncontrollable shaking — usually of the hands but sometimes of the head and other body parts, or the voice — that is not due to some other condition. And without knowing what causes it, doctors have been slow to come up with treatments to subdue it. As a result, millions of individuals suffer to varying degrees with embarrassment and humiliation, social isolation and difficulties holding down a job or performing the tasks of daily life. When you cannot drink a glass of water or eat soup without spilling it because your hand shakes violently, you are unlikely to join others for a dinner out. When you have to depend on someone else to button your shirt or zip your jacket, you may not go out at all. Wherever those with essential tremor go, people are likely to stare at them and assume they have a drug or alcohol problem, said Catherine Rice, executive director of the International Essential Tremor Foundation in Lenexa, Kan. (Call it at 888-387-3667 or visit its Web site: www.essentialtremor.org.) Now, thanks to the devoted efforts of a few researchers here and abroad, all this may change. Recent studies have begun to unravel the mysteries of essential tremor, and “essential” may someday be dropped from its name. Copyright 2009 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 13544 - Posted: 06.24.2010

By RONI CARYN RABIN It may be hard to fathom, but in the haystack of government health statistics that track cancer, car accidents, twin births to women over 40, fat teenagers and people who quit smoking, there has been no reliable estimate of the number of Americans affected by paralysis. Until now. A study to be released on Tuesday by the Christopher and Dana Reeve Foundation reports that far more Americans than previously estimated are paralyzed to some degree: 5.6 million people, representing 1.9 percent of the population, or roughly 1 in 50 Americans. Previous estimates — or “guesstimates,” as some have called them — hovered around 4 million at most, and some were as low as 1.4 million. “Nobody had any idea what the numbers were, because no one ever tried to find out,” said Joseph Canose, vice president for quality of life at the Reeve Foundation’s Paralysis Resource Center, who led the study. “There were many different ways of counting it, and there was no common definition, and the numbers were all over the place.” But the figures, which could have enormous implications for public policy, research financing and health care, are already causing controversy, because the estimates for paralysis caused by certain diseases and conditions differ drastically from long-accepted numbers. Copyright 2009 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 12783 - Posted: 06.24.2010

by Joyce Gramza It’s been 20 years since the discovery of the gene that causes the most common type of Muscular Dystrophy — Duchenne MD — and patients are still waiting for a cure. "The mutation causes muscle fibers to pull away from each other and with progressive use of your muscles in these patients it eventually leads to muscle damage, severe muscle damage," explains Dean Burkin, assistant professor of pharmacology at the University of Nevada, Reno School of Medicine. Gene therapy to replace the faulty dystrophin gene might be a solution, but Burkin and his colleagues are excited about a simpler and potentially safer approach based on work they are publishing in this week’s Proceedings of the National Academy of Sciences. "This could be an IV drug for the patients if the work in the mouse models that we’ve been using translates to human studies," Burkin says. "That would allow a fair ease of treatment for the patients�. We’ve obviously got to do some safety tests and there’s still a few studies that we need to do. But in the field there are a number of drugs including ours that are being developed. "These patients, especially, have been waiting a long time for new therapies to come about and I think we’re at the cusp now." ©2009 ScienCentral

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 12779 - Posted: 06.24.2010

By DIANA MICH�LE YAP In my dreams, I can walk. Awake, I lie in bed because I have to — on my back, or on my side. I shift positions. I’ve learned I’m lucky I can do that. Sometimes I’m so tired that simply lying in bed is not restful enough. Can I be any more horizontal? Can my atrophied limbs sink any lower into the sheets, the mattress that molds to my form? I imagine falling through the mattress, but realize it would probably hurt when I hit the floor. I never get bored, lying there. Just sad. Last year I lost my ability to walk. By the time I finally learned I had osteosclerotic myeloma, part of POEMS syndrome (a rare blood disorder whose initials stand for five of its features, including polyneuropathy, or nerve damage), I was weaker than I’d ever been. I was nearly unable even to use my hands. None of it registered as suffering, until this past spring, as I began to write these words. Perhaps I’ve been in shock. I recognize that I don’t live in a war zone, that there are more aggressive cancers. I’m told about others locked in their disabled bodies who produce great work, and even play sports. But I am not extraordinary; I’m no hero. The horror of my situation is the opposite of the happy ending I wished for in high school, half a lifetime ago. At 35, I’m mostly confined to the bed and the wheelchair. Twice a week I go to physical therapy. Copyright 2008 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 15: Emotions, Aggression, and Stress
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 11: Emotions, Aggression, and Stress
Link ID: 12394 - Posted: 06.24.2010