Links for Keyword: Movement Disorders

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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

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26816 - Posted: 11.14.2019

Anna Azvolinsky Nearly 30 years ago, Kamran Khodakhah, now a neuroscientist at Albert Einstein College of Medicine, signed up for a TV repair course that met several times a week at night at a local community college in London. While many of the other students were attending with the obvious goal of repairing TVs and other appliances, Khodakhah had a different aim. He reasoned that if he could understand how a television worked, he could design new tools to study the rat brain slices he had collected. Khodakhah was working as a PhD student in the lab of neuroscientist David Ogden at the National Institute for Medical Research, trying to determine whether a particular signaling pathway—the inositol trisphosphate (InsP3)/calcium signaling pathway—could be activated in nerve cells called Purkinje neurons. They are found in the cerebellum and have a high density of InsP3 receptors. By taking the TV repair class, Khodakhah wanted to learn to build an electronic circuit to enhance his camera images in order to better visualize the Purkinje cells within slices of the cerebellum and to study the InsP3/calcium ion signaling pathway. He used the new imaging setup, combined with existing lab tools such as flash photolysis, to introduce inert precursor molecules of InsP3—called caged InsP3—into Purkinje neurons in cerebellar slices prepared from rat brains. When stimulated with light, a caged InsP3 molecule is rapidly converted into an active form that binds to InsP3 receptors. Khodakhah then used a fluorescent calcium indicator and recorded the calcium channel activity to see if the binding of InsP3 receptors caused release of calcium from internal stores. At the time, researchers knew that in liver and other non-neuronal cells, InsP3 molecules act as messengers, stimulating the release of calcium ions, which then activates internal cellular pathways. Whether something similar happened in Purkinje neurons wasn’t clear, but if it did, the process might reveal something about how the cerebellum coordinates movement, Khodakhah thought. © 1986–2019 The Scientist.

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26736 - Posted: 10.23.2019

By Pam Belluck About 10 days after what seemed like a garden-variety cold, Luca Waugh, a healthy 4-year-old, developed troubling symptoms. Suddenly, his neck became so weak that he fell backward. Then his right arm couldn’t move. Within days, recalled his mother, Dr. Riley Bove, he developed “head-to-toe paralysis, where he could kind of move his eyes a little bit and one side of his face.” Doctors diagnosed Luca with acute flaccid myelitis or A.F.M., a mysterious neurological condition that can cause limb weakness and polio-like paralysis, mostly in young children. A.F.M. is rare, but in 2014, when Luca became afflicted, health authorities identified a burst of 120 cases. Since then, A.F.M. has made headlines as cases have spiked every two years, and nearly 600 have been confirmed across the country since 2014. What exactly causes A.F.M. has eluded experts, frustrating attempts to prevent or treat it. Now, a study by a team that includes Luca’s mother, Dr. Bove, who happens to be a neurologist, provides strong evidence of a likely cause. It involved dozens of children with A.F.M., including Luca, whose paralysis improved after weeks of hospitalization but who remains disabled five years later. The research, published Monday in the journal Nature Medicine, points to a long-suspected culprit: enteroviruses, a group of common viruses that usually produce mild effects, but can sometimes cause neurological symptoms. Using sophisticated laboratory techniques, researchers found antibodies to enteroviruses in the cerebrospinal fluid of nearly 70 percent of the children with A.F.M., a sign their bodies had mobilized to defend against enterovirus infection. © 2019 The New York Times Company

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26734 - Posted: 10.22.2019

Allison Aubrey The condition strikes young children. It can start with run-of-the-mill virus symptoms, like fever or sniffles. But, then the kids lose control of their limbs, may have trouble swallowing or breathing, or even end up paralyzed. This terrifying experience happened to more than 570 families since 2014, whose children were struck with an illness called acute flaccid myelitis, or AFM. "It was really scary," says Susan Coyne, the mother of a son, Evan Mazanec, who developed AFM back in 2014 when he was 7 years old. "When this first started, no one really knew what it was," she says. It came on quickly, starting with a fever and an ear infection. Coyne says the limb weakness and paralysis began several days later — just as Evan was getting over the fever. He lost control of his arms and legs. "He couldn't move them, he couldn't lift them, he couldn't walk," Coyne says. He spent a year and a half in intensive rehab. He had to learn to walk and move his arms again. "It set him back years," Coyne says. Scientists have struggled to understand what causes this rare childhood disease. Now, one theory is gaining ground. A paper published Monday in the journal Pediatrics finds the condition may be triggered by a virus. The disease follows a pattern: Scientists have documented outbreaks every other year, beginning in 2014, and again in 2016 and 2018. Last year, there were 233 cases in the U.S. It strikes young kids, average age of 6. And, it can lead to long-term paralysis. © 2019 npr

Related chapters from BN8e: 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 13: Memory, Learning, and Development
Link ID: 26684 - Posted: 10.09.2019

By Jason Gutierrez MANILA — President Rodrigo Duterte of the Philippines has revealed that he has a neuromuscular disease that has led to a slew of medical problems, including making his eye droop. Mr. Duterte, who was in Russia for a state visit, told the Filipino community there on Saturday night that he has myasthenia gravis, a chronic autoimmune disease that leads to skeletal muscle weakness. He said the disease ran in his family. The revelation came amid continued public speculation about his health. There have been periods when the famously bombastic president has been out of the public eye for days, prompting headlines guessing about his whereabouts, and even rumors of his death. But his communications officers have said that Mr. Duterte, 74, like any other older person, needs his own personal time. The president revealed the ailment after he apparently made a joke about not being able to look straight at a woman with whom he had danced a duet during the event in Moscow. “I have a talent,” Mr. Duterte said, according to official transcripts provided by his office afterward. “When I look at you, my other eye droops. Do you see? The other eye is smaller. It goes where it wants.” He added: “Actually, that’s myasthenia gravis. It’s a nerve malfunction.” Mr. Duterte said his grandfather had also had the disease, adding, “So I believe, really, in genetics.” The disease often affects the muscles that control the eyes, facial expression, speaking and swallowing, according to the Philippine Medical Association. Mr. Duterte came to power in 2016 vowing to rid the country of drug dealers and to wipe out other crimes. Since then, the Philippines’ war on drugs has led to thousands of killings allegedly by the police and vigilantes, which rights groups have denounced as an atrocity. © 2019 The New York Times Company

Related chapters from BN8e: 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: 26676 - Posted: 10.07.2019

By Joanna Broder It had been two agonizing years of not knowing what was wrong with their baby who, since birth, had frequent spells of eye flickering, uncontrollable muscle contractions, pain and temporary paralysis. Simon and Nina Frost had spared no expense, taking Annabel to all the best neurologists around the country. Finally a potential diagnosis emerged: alternating hemiplegia of childhood, an ultrarare genetic disorder. The Frosts’ initial excitement at having answers quickly waned, however. They learned that, for many of the 900 or so children in the world affected by AHC, mutations in one of the genes that code for a subunit of the body’s critical sodium potassium pump interferes with the body’s ability to repeatedly fire nerve cells. In addition to Annabel’s other symptoms, difficulty breathing, choking and falling are common. They also learned that there is no effective treatment or cure, that any one of Annabel’s episodes has the potential to lead to permanent brain damage or death, and that it is hard to get information about the disease. Foundations dedicated to AHC informally recommend only four physicians in the United States as knowledgeable enough about the disorder to see patients. Of those who are closest to the Frosts, who live in Northwest D.C., one was too busy to see Annabel. There was a two-month wait to see the other one. The foundations themselves didn’t have many answers to the Frosts’ initial questions about life expectancy or what course Annabel’s disease might take. The Frosts discovered that relatively few scientists and clinicians study AHC, and their focus seemed to be basic research and not developing a therapy. © 1996-2019 The Washington Post

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity; Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 3: Neurophysiology: The Generation, Transmission, and Integration of Neural Signals
Link ID: 26565 - Posted: 09.03.2019

A new study analyzing samples from patients with and without acute flaccid myelitis (AFM) provides additional evidence for an association between the rare but often serious condition that causes muscle weakness and paralysis, and infection with non-polio enteroviruses. The National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, funded the research, which was conducted by investigators at Columbia University’s Center for Infection and Immunity and investigators from the Centers for Disease Control and Prevention. The findings are reported in the online journal mBio. There have been 570 confirmed cases since CDC began tracking AFM in August 2014. AFM outbreaks were reported to the CDC in 2014, 2016 and 2018. AFM affects the spinal cord and is characterized by the sudden onset of muscle weakness in one or more limbs. Spikes in AFM cases, primarily in children, have coincided in time and location with outbreaks of EV-D68 and a related enterovirus, EV-A71. Both of these viruses typically cause mild respiratory illness from which most people recover fully. Despite the epidemiological link between enterovirus circulation and AFM cases, evidence of direct causality has not been found. The researchers first looked for direct evidence of enterovirus infection in the cerebrospinal fluid (CSF) of 13 children and one adult diagnosed with AFM in 2018. They also examined five CSF samples taken from people with other central nervous system diseases. The team used a new tool they developed called VirCapSeq-VERT, which can detect any viral genetic material that is at least 60% like that of any known vertebrate virus. They found enteroviral genetic material (EV-A71) in only the one adult AFM case and genetic material from another enterovirus (echovirus 25) in one of the non-AFM cases.

Related chapters from BN8e: 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: 26493 - Posted: 08.13.2019

By Pam Belluck Last year, health officials confronted a record number of cases of a rare, mysterious neurological condition that caused limb weakness and paralysis in more than 200 children across the country. Officials with the Centers for Disease Control and Prevention said on Tuesday that they were still trying to understand the condition, called acute flaccid myelitis, or A.F.M. And though there have been very few cases so far this year, they urged doctors to be on the lookout because the illness has tended to emerge in late summer and early fall. A.F.M. often involves sudden muscle weakness in the legs or arms and can also include stiffness in the neck, drooping eyelids or face muscles, problems swallowing and slurred speech. The paralysis can appear similar to polio. There have been 570 recorded cases since 2014, when the C.D.C. began tracking the condition, and it appears to peak every two years from August through October. In 2018, there were 233 cases in 41 states, the largest reported outbreak so far, the agency reported Tuesday. In alternate years, there have been small numbers of cases and 2019, with 11 confirmed cases so far, is looking like other off years, C.D.C. officials said. Still, Dr. Anne Schuchat, the agency’s principal deputy director, cautioned parents and clinicians to be aware of possible symptoms and report suspected cases quickly. “We don’t right now have an explanation for the every-other-year pattern,” she said, “and we really need to be ready to rapidly detect, report and investigate each case this year and be ready for possibly a bad year this year.” © 2019 The New York Times Company

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26404 - Posted: 07.10.2019

Ashley Yeager The US Food and Drug Administration has approved a new treatment for a rare childhood disorder that costs $2.125 million for single dose—the most expensive medicine on the market. The medicine is designed to treat spinal muscular atrophy (SMA), a condition driven by defects in the SMN1 gene, which causes afflicted babies to lose muscle control. The illness affects about 400 babies in the US each year and kills those with the most common form of the disease in just a few years. The new treatment is a gene therapy that uses genetically modified viruses to deliver healthy copies of the SMN1 gene to patients’ cells so they can generate a protein that helps the babies develop normally. In tests of the treatment, babies who received it by 6 months of age didn’t have as severe muscle problems as those who didn’t get the drug. Infants getting the drug after six months also didn’t lose muscle control, but they suffered irreversible damage. Babies who got the treatment the earliest were the healthiest, according to the Associated Press. “We saw just remarkable results for these kids,” David Lennon tells NPR. Lennon is the president of AveXis, the company, owned by Novartis that developed the drug, called Zolgensma. It is only the second FDA-approved gene therapy designed to treat a genetic disorder. While the success of the treatment is being celebrated, the price tag is taking heat. “It's absolutely stunning,” Peter Bach, who studies health policy at Memorial Sloan Kettering Cancer Center in New York, tells NPR. The drug’s price tag, he says, drains resources from society, and it’s not alone. © 1986–2019 The Scientist

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26274 - Posted: 05.29.2019

Sarah Boseley Health editor A drug that could prolong the lives of children with a rare muscle-wasting disease has been approved by the NHS in England after lengthy negotiations with the manufacturer over the high price. Spinraza could help between 600 and 1,200 children and adults in England and Wales who have the genetic condition spinal muscular atrophy (SMA). It affects the nerves in the spinal cord, making muscles weaker and causing problems with movement, breathing and swallowing. It can shorten the life expectancy of babies and toddlers. The drug can slow the progress of the disease but the company making the drug, Biogen, was asking for a high price, that effectively amounted to more than £400,000 for a year of good quality life, according to the National Institute for Health and Care Excellence (Nice), which assesses value for money. Nice said there was limited data on its long-term effectiveness and turned it down last August, to the distress of affected families. Simon Stevens, the NHS England chief executive, said agreement had been reached and children would shortly get Spinraza, the market name of the drug nusinursen. “This promising treatment has the potential to be life changing for children and their families,” said Stevens. “The NHS has now reached one of the most comprehensive deals in the world, which allows us to assess real-world evidence of its long-term benefits. © 2019 Guardian News & Media Limited

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26235 - Posted: 05.15.2019

By Jocelyn Kaiser WASHINGTON, D.C.—A new gene therapy treatment has had striking results in nine boys born with myotubular myopathy (MTM), a rare disease that causes extreme muscle weakness often from birth. All of the boys have better neuromuscular function, most can sit on their own, and four are now breathing without ventilators. As videos of their improvements were shown here on 1 May at the annual meeting of the American Society of Gene & Cell Therapy (ASGCT), the audience broke out in applause. The results, the first of their kind for this rare disease, cap a year of early signs of success in using gene therapy for inherited muscle diseases. As far as muscle function is concerned, the boys “have gone from nothing to something,” says principal investigator Perry Shieh, a neurologist at the University of California, Los Angeles. “Time will tell how much that something will be.” The patients in the new study have X-linked MTM, caused by a defect in a gene called MTM1 that encodes an enzyme, myotubularin. Skeletal muscles need the enzyme to develop and function. Boys with the disease have low muscle tone and, in many cases, can barely breathe or move on their own; most require a ventilator and feeding tube. Half of patients die by 18 months, and few live past age 10. In the trial, sponsored by Audentes Therapeutics, a gene therapy company in San Francisco, California, nine boys between 8 months and 6 years old with X-linked MTM received an intravenous (IV) infusion of many trillions of particles of a harmless virus, called an adeno-associated virus. The viruses were designed to carry a good copy of the MTM1 gene into the boys’ muscle cells. The gene, a free-floating piece of DNA, could then trigger the cell’s proteinmaking machinery to produce myotubularin. Three patients had serious side effects that may have been related to the therapy, such as heart inflammation, but all were treatable. © 2019 American Association for the Advancement of Science

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26204 - Posted: 05.03.2019

By Gina Kolata Lucas was 5 before his parents, Bill and Marci Barton of Grand Haven, Mich., finally got an explanation for his difficulties standing up or climbing stairs. The diagnosis: muscular dystrophy. Mr. Barton turned to Google. “The first thing I read was, ‘no cure, in a wheelchair in their teens, pass in their 20s,” Mr. Barton said. “I stopped. I couldn’t read any more. I couldn’t handle it.” Then he found a reason to hope. For the first time ever, there are clinical trials — nearly two dozen — testing treatments that might actually stop the disease. The problem, as Mr. Barton soon discovered, is that the enrollment criteria are so restrictive that very few children qualify. As a result, families like the Bartons often are turned away. “There is so much hope, but it’s not for them,” said Kristin Stephenson, vice president of policy and advocacy at the Muscular Dystrophy Association in Chicago. Even for the parents whose lucky child qualifies, good news may be followed by agonizing, life-or-death choices. What treatments seem most promising? Should he be enrolled in a trial with a placebo arm? Should he be placed in a less risky study that aims to slow the progress of the disease but will not stop it? Should the parents take their chances with a trial now — or wait a year or two, as their child’s condition worsens, until something better comes along? Often there is no easy way to decide. “We talk to families every day,” said Debra Miller who founded the advocacy group, Cure Duchenne, after her son was diagnosed with the disease. “So many times they are looking at us and saying, ‘What do I do?’” © 2019 The New York Times Company

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity; Chapter 12: Sex: Evolutionary, Hormonal, and Neural Bases
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 8: Hormones and Sex
Link ID: 26076 - Posted: 03.25.2019

By: Kelly Howell, Ph.D., Rebecca Gibbs, and Lee L. Rubin, Ph.D. Editor’s Note: Spinal muscular atrophy is the number one genetic cause of infant death. Until recently, half the babies born with it would die before their second birthdays, their hearts and lungs becoming too weak to continue. Medical care improved the odds somewhat, but new discoveries and therapeutic developments have improved survival rates significantly—and more good news may be on the horizon. In 2016, Bloomberg published an article that described Lauren Gibbs, who was born with spinal muscular atrophy (SMA) and enrolled in a clinical trial for a drug called nusinersen. The story reported that Gibbs enjoyed wheelchair basketball but was known primarily for her defense because she didn’t have enough strength to heave the ball high enough to reach the rim. “After the second time I got the drug, I hit probably 50 baskets in a row,” said Gibbs, who later attended Baylor University. Later that year, nusinersen became the first SMA treatment to be approved by the Federal Drug Administration (FDA). It is one of many promising developments in the past decade in understanding and treating SMA, a genetic neuromuscular disorder first described in the 1890s by Austrian physicians Guido Werdnig and Johann Hoffman. The pair observed infants with flaccid limb and trunk muscles, accompanied by the degeneration of motor neurons in the spinal cord.1 They learned that the loss of these neurons—specialized nerve cells responsible for stimulating skeletal muscle contraction—results in muscle atrophy and weakness, the hallmarks of SMA. Over the next century, further studies revealed highly variable disease severity and age of onset, making it unclear if SMA was one disease with a broad array of symptoms in different patients, or a number of distinct diseases. © 2019 The Dana Foundation.

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26049 - Posted: 03.19.2019

Sara Reardon Infectious-disease researchers hunting for the cause of a mysterious illness that is paralysing children are combining machine learning with a new gene-sequencing technique to pin down the culprit. The disease, called acute flaccid myelitis (AFM), causes limb weakness and paralysis that resembles the symptoms of polio. The US Centers for Disease Control and Prevention (CDC) in Atlanta, Georgia, has confirmed 134 cases of AFM in the United States so far this year. Many of those who develop the illness never recover. Most of the evidence suggests that an enterovirus called EV-D681 is causing the illness, but researchers haven’t been able to find the pathogen in the spinal fluid of sick children. Scientists are trying to identify the culprit by using a combination of host-response diagnostics — which look at how the immune system responds to pathogens — and machine-learning analysis. The approach could lead to better diagnostics and provide hints about new treatments. Host-response diagnostic tests haven’t been used in the clinic yet. But researchers are developing similar tests to help pinpoint other conditions that can be tricky to diagnose, including tuberculosis and bacterial meningitis. This year’s AFM outbreak started in October, and is the third in a series of outbreaks in the United States that began in 2014. They have occurred every other year since, though researchers have yet to find a definitive explanation for the pattern. It is also taking scientists an unusually long time to determine the cause of the illness, says William Weldon, a microbiologist at the CDC. © 2018 Springer Nature Publishing AG

Related chapters from BN8e: 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: 25758 - Posted: 12.07.2018

Anna Azvolinsky In 1976, Huda Zoghbi (then Huda El-Hibri) was an eager first-year medical student at the American University of Beirut, Lebanon, her hometown. Halfway through that year, a civil war broke out. “Bombs were falling all around the medical campus,” the neuroscientist recalls. “I couldn’t commute 500 feet, let alone the two miles it took me to get home every day.” She and the other 62 students in her class decided that they, along with their professors, would live on campus—mostly underground, in double-walled rooms—to finish the school year. Although the medical school was considered a safe zone, as both warring factions would send their wounded there for care, an occasional bullet or piece of shrapnel still pierced the campus. One afternoon, Huda had ventured out for a walk on campus with her boyfriend, William Zoghbi, a fellow medical student. They were holding hands and for no particular reason let go. In those few seconds, a bullet flew between them. Neither was hurt, but the young couple realized in an instant how close and serious the war really was. Later, shrapnel wounded Huda’s younger brother while he was walking home from high school, so their parents decided to send them and another sibling to Texas, where their oldest sister was a professor of philosophy. The move was supposed to be temporary. But when the 1977 school year was to start in Lebanon, the civil war was still raging, and neither Huda nor her siblings could return home. © 1986 - 2018 The Scientist

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 25684 - Posted: 11.15.2018

By Meredith Wadman A treatment for Niemann-Pick type C (NPC), an extremely rare and ultimately fatal neurodegenerative disease, performed no differently than placebo in a pivotal trial in 56 children and youths, its corporate sponsor announced on Tuesday. Perplexingly, though, the disease did not progress in either the treatment or placebo groups during the 1-year study, the company said. Normally, the condition, a result of impaired cholesterol metabolism, inexorably worsens, causing loss of balance, difficulty swallowing, seizures, and cognitive disabilities. The drug, VTS-270, a doughnut-shaped sugar molecule called a cyclodextrin, “did not show a statistically significant separation from placebo,” Steven Romano, Mallinckrodt Pharmaceuticals’s executive vice present and chief scientific officer told investors on a conference call on Tuesday. “But importantly, neither did [patients in the active or placebo arms of the trial] show disease progression as would have been anticipated in the neurodegenerative condition over 52 weeks of observation.” The drug was given by spinal injection into the cerebrospinal fluid, which circulates to the brain. The news—and the way Mallinckrodt, which has its U.S. headquarters in St. Louis, Missouri, delivered it—came as a shock to families in the NPC community, who learned of it when investors began to tweet about it. (The company did email a letter to NPC disease groups on Tuesday. Mallinckrodt, whose stock is publicly traded, added in a statement emailed to Science that securities laws prevented the company from notifying patients sooner.) © 2018 American Association for the Advancement of Science

Related chapters from BN8e: 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 13: Memory, Learning, and Development
Link ID: 25661 - Posted: 11.10.2018

By James Gorman David Hu was changing his infant son’s diaper when he got the idea for a study that eventually won him the Ig Nobel prize. No, not the Nobel Prize — the Ig Nobel prize, which bills itself as a reward for “achievements that make people laugh, then think.” As male infants will do, his son urinated all over the front of Dr. Hu’s shirt, for a full 21 seconds. Yes, he counted off the time, because for him curiosity trumps irritation. That was a long time for a small baby, he thought. How long did it take an adult to empty his bladder? He timed himself. Twenty-three seconds. “Wow, I thought, my son urinates like a real man already.” He recounts all of this without a trace of embarrassment, in person and in “How to Walk on Water and Climb up Walls: Animal Movements and the Robotics of the Future,” just published, in which he describes both the silliness and profundity of his brand of research. No one who knows Dr. Hu, 39, would be surprised by this story. His family, friends, the animals around him — all inspire research questions. His wife, Jia Fan, is a marketing researcher and senior data scientist at U.P.S. When they met, she had a dog, and he became intrigued by how it shook itself dry. So he set out to understand that process. Now, he and his son and daughter sometimes bring home some sort of dead animal from a walk or a run. The roadkill goes into the freezer, where he used to keep frozen rats for his several snakes. (The legless lizard ate dog food). “My first reaction is not, oh, it’s gross. It’s ‘Do we have space in our freezer,’” Dr. Fan said. He also saves earwax and teeth from his children, and lice and lice eggs from the inevitable schoolchild hair infestations. “We have separate vials for lice and lice eggs,” he pointed out. © 2018 The New York Times Company

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity; Chapter 6: Evolution of the Brain and Behavior
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 25650 - Posted: 11.06.2018

A new study puts a fresh spin on what it means to “go with your gut.” The findings, published in Nature, suggest that gut bacteria may control movement in fruit flies and identify the neurons involved in this response. The study was supported by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health. “This study provides additional evidence for a connection between the gut and the brain, and in particular outlines how gut bacteria may influence behavior, including movement,” said Margaret Sutherland, Ph.D., program director at NINDS. Researchers led by Sarkis K. Mazmanian, Ph.D., professor of microbiology at the California Institute of Technology in Pasadena, and graduate student Catherine E. Schretter, observed that germ-free flies, which did not carry bacteria, were hyperactive. For instance, they walked faster, over greater distances, and took shorter rests than flies that had normal levels of microbes. Dr. Mazmanian and his team investigated ways in which gut bacteria may affect behavior in fruit flies. “Locomotion is important for a number of activities such as mating and searching for food. It turns out that gut bacteria may be critical for fundamental behaviors in animals,” said Dr. Mazmanian. Fruit flies carry between five and 20 different species of bacteria and Dr. Mazmanian’s team treated the germ-free animals with individual strains of those microbes. When the flies received Lactobacillus brevis, their movements slowed down to normal speed. L. brevis was one of only two species of bacteria that restored normal behavior in the germ-free flies.

Related chapters from BN8e: Chapter 11: Motor Control and Plasticity; Chapter 13: Homeostasis: Active Regulation of the Internal Environment
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 9: Homeostasis: Active Regulation of the Internal Environment
Link ID: 25630 - Posted: 11.01.2018

By Lena H. Sun Federal health officials took the unusual step on Tuesday of warning the public about an increase in a mysterious and rare condition that mostly affects children and can cause paralysis. So far this year, 127 confirmed or suspected cases of acute flaccid myelitis, or AFM, have been reported to the Centers for Disease Control and Prevention — a significant increase over 2017 and a worrying perpetuation of a disease for which there is little understanding. Of the cases announced Tuesday, 62 have been confirmed in 22 states, according to Nancy Messonnier, a top official at the CDC. More than 90 percent of the confirmed cases have been in children 18 and younger, with the average age being 4 years old. The surge has baffled health officials, who on Tuesday announced a change in the way the agency is counting cases. They also wanted to raise awareness about the condition so parents can seek medical care if their child develops symptoms, and so physicians can quickly relay reports of the potential illness to the CDC. “We understand that people, particularly parents, are concerned about AFM,” said Messonnier, director of the National Center for Immunization and Respiratory Diseases. Despite extensive laboratory and other testing, CDC has not been able to find the cause for the majority of the cases. “There is a lot we don’t know about AFM, and I am frustrated that despite all of our efforts, we haven’t been able to identify the cause of this mystery illness." © 1996-2018 The Washington Post

Related chapters from BN8e: 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 13: Memory, Learning, and Development
Link ID: 25586 - Posted: 10.17.2018

By Christine Hauser Health authorities in the United States said this week that they were investigating an unusual spike in cases of a rare condition that causes limb paralysis and severe muscle weakness in children. Since mid-September, six cases of the condition, acute flaccid myelitis, in children under 10 years old have been reported to the Minnesota Department of Health, the agency said. Another two possible cases are pending confirmation, officials said. The number of cases of the illness, also known as A.F.M., is the highest in the state since 2014, when there were three reported cases, the health authorities said. Minnesota typically records one case of A.F.M. each year, and some years it does not have any at all, the department said. Officials have not found a specific cause for the illness. On Tuesday, the health authorities said three children suspected to have A.F.M. were being treated at UPMC Children’s Hospital of Pittsburgh. Officials in Colorado said this week that they were investigating a viral infection outbreak among children that included 14 cases of A.F.M. this year. The Centers for Disease Control and Prevention says it has seen an increasing number of people across the United States with the serious condition in the past four years. A.F.M. affects the nervous system and causes, mostly in children, paralysis similar to polio. The signs include sudden muscle weakness in the arms or legs; neck weakness or stiffness; a drooping face or eyelids; difficulty swallowing; and slurred speech, health officials say. Parents usually notice the child’s loss of the use of an arm or a leg. That was the case with Orville Young, a 4-year-old boy in Minnesota who lost mobility in his right arm and had difficulty sitting up and moving his legs. © 2018 The New York Times Company

Related chapters from BN8e: 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 13: Memory, Learning, and Development
Link ID: 25562 - Posted: 10.11.2018