By Amanda Coletta Health officials in New Brunswick released a long-awaited report Thursday into a mysterious and debilitating neurological disorder that has struck dozens of people with bizarre symptoms — including a belief that family members have been replaced by impostors — stumped doctors and stoked fears across the province. The conclusion? There is no new disorder. “The oversight committee has unanimously agreed that these 48 people should never have been identified as having a neurological syndrome of unknown cause, and that based on the evidence reviewed, no such syndrome exists,” said Jennifer Russell, chief medical officer of health for the Canadian province. “Public Health concurs with these findings. But I stress again, this does not mean that these people aren’t seriously ill. It means they are ill with a known neurological condition.” The report’s authors say the 48 cases in what was thought to be a cluster were randomly allocated to pairs of neurologists who reviewed them and presented their findings to an oversight committee of six New Brunswick neurologists and other officials. The committee said none of the cases met the full criteria of the case definition. But that finding, coming at the end of an investigation marred by accusations of opacity from the start and allegations that Canada’s top scientists and experts from around the world had been abruptly shut out of the process, appeared unlikely to assuage alarm in the province and more likely to deepen mistrust. Patients and their family members questioned the committee’s findings Thursday, saying the province has not carried out the relevant testing and opted to “abandon scientific rigor in exchange for political expediency.” © 1996-2022 The Washington Post

Keyword: Stress; Prions
Link ID: 28222 - Posted: 02.26.2022

by Laura Dattaro Some genomic areas that help determine cerebellar size are associated with autism, schizophrenia and bipolar disorder, according to a new study. But heritable genetic variants across the genome that also influence cerebellar size are not. The cerebellum sits at the base of the skull, below and behind the much larger cerebrum. It coordinates movement and may also play roles in social cognition and autism, according to previous research. The new work analyzed genetic information and structural brain scans from more than 33,000 people in the UK Biobank, a biomedical and genetic database of adults aged 40 to 69 living in the United Kingdom. A total of 33 genetic sequence variants, known as single nucleotide polymorphisms (SNPs), were associated with differences in cerebellar volume. Only one SNP overlapped with those linked to autism, but the association should be explored further in other cohorts, says lead investigator Richard Anney, senior lecturer in bioinformatics at Cardiff University in Wales. “There’s lots of caveats to say why it might be worth following up on,” Anney says. “But from this data alone, it’s not telling us there’s a major link between [autism] and cerebellar volume.” So far, cognitive neuroscientists have largely ignored the cerebellum, says Jesse Gomez, assistant professor of neuroscience at Princeton University, who was not involved in the work. The new study represents a first step in better understanding genetic influences on the brain region and its role in neurodevelopmental conditions, he says. “It’s a fun paper,” Gomez says. “It’s the beginning of what’s an exciting revolution in the field.” Of the 33 inherited variants Anney’s team found, 5 had not previously been significantly associated with cerebellar volume. They estimated that the 33 variants account for about 50 percent of the differences in cerebellar volume seen across participants. © 2022 Simons Foundation

Keyword: Autism; Genes & Behavior
Link ID: 28215 - Posted: 02.23.2022

Linda Geddes A simple test could end years of uncertainty for people with relatively common neurological conditions, new research has found. Historically, obtaining a definitive diagnosis for conditions including Huntingdon’s disease and some forms of amyotrophic lateral sclerosis has been difficult, because, although the cause of the symptoms is genetic, knowing which test to carry out has resulted in delays of many years. Now, a new study suggests that whole genome sequencing (WGS) can quickly and accurately detect the most common inherited neurological disorders, and could be implemented in routine clinical practice with immediate effect. “It is very exciting because it opens up the vista of a test that could end the diagnostic odyssey for many patients,” said Prof Sir Mark Caulfield from Queen Mary University of London and former chief scientist at Genomics England. “This work paves the way for this to be implemented immediately within the NHS.” WGS is already offered to people in England with rare disorders or childhood cancers through the NHS Genomic Medicine Service. However, the technique wasn’t thought to work on people with ‘repeat expansion disorders’ caused by the insertion of short repetitive chunks of DNA into the genetic code – in some cases, stretching across long distances – because they can be difficult to quantify. Such disorders are relatively common, affecting around one in 3,000 people, and include neurodegenerative and movement disorders such as Fragile X syndrome, Huntington’s disease, Friedreich’s ataxia, and some forms of amyotrophic lateral sclerosis or frontal lobe dementia. © 2022 Guardian News & Media Limited

Keyword: Huntingtons; Genes & Behavior
Link ID: 28210 - Posted: 02.19.2022

By Lisa Sanders, M.D. “OK, I give up,” said the 74-year-old man. “I’ll go to the hospital.” His wife of 46 years gave an inner sigh of relief. Her husband was stubborn, a seventh-​generation Mainer, not given to complaining. But a few weeks earlier, she noticed that he was parking his tractor next to the back porch so he could get on it without pulling himself up. Then he needed help getting out of his big chair. Now he could barely walk. It happened so suddenly it scared her. She eased the car right next to the porch. He needed both hands on the railing to get down, grunting with each step. His legs moved awkwardly, as if they had somehow forgotten what to do. At the LincolnHealth-Miles Campus Hospital in nearby Damariscotta, it was clear to the E.R. doctors that the patient wasn’t weak but ataxic, lacking not strength but coordination. Virtually every movement the body makes requires several muscles working together — a collaboration that occurs in the cerebellum. The uncertain and awkward way the patient moved made doctors at LincolnHealth worry that something — maybe a stroke, maybe a tumor — had injured that part of the brain. But two CT scans and an M.R.I. were unrevealing. When his doctors weren’t sure what to do next, the patient decided it was time to go home. His wife was supportive but worried. How could she help him get around? He was a big guy and outweighed her by 50 pounds. And they still needed to figure out what was wrong with him. Couldn’t they try another hospital? Maybe, he said, but first he wanted to go home. So that’s where she took him. Once there, it took only a day for the man to recognize, again, that he couldn’t just tough it out at home. There was another hospital, a larger one a couple of towns over in Brunswick: Mid Coast Hospital. His wife was happy to take him there. Those few steps he took from porch to car, supported by his wife, were the last he would take for weeks. © 2022 The New York Times Company

Keyword: Movement Disorders; Neuroimmunology
Link ID: 28204 - Posted: 02.16.2022

By Pallab Ghosh A paralysed man with a severed spinal cord has been able to walk again, thanks to an implant developed by a team of Swiss researchers. It is the first time someone who has had a complete cut to their spinal cord has been able to walk freely. The same technology has improved the health of another paralysed patient to the extent that he has been able to become a father. The research has been published in the journal Nature Medicine. Michel Roccati was paralysed after a motorbike accident five years ago. His spinal cord was completely severed - and he has no feeling at all in his legs. But he can now walk - because of an electrical implant that has been surgically attached to his spine. Someone this injured has never been able to walk like this before. The researchers stress that it isn't a cure for spinal injury and that the technology is still too complicated to be used in everyday life, but hail it nonetheless as a major step to improving quality of life. I met Michel at the lab where the implant was created. He told me that the technology "is a gift to me". "I stand up, walk where I want to, I can walk the stairs - it's almost a normal life." It was not the technology alone that drove Michel's recovery. The young Italian has a steely resolve. He told me that from the moment of his accident, he was determined to make as much progress as he could. "I used to box, run and do fitness training in the gym. But after the accident, I could not do the things that I loved to do, but I did not let my mood go down. I never stopped my rehabilitation. I wanted to solve this problem." The speed of Michel's recovery amazed the neurosurgeon who inserted the implant and expertly attached electrodes to individual nerve fibres, Prof Jocelyne Bloch at Lausanne University Hospital "I was extremely surprised," she told me. "Michel is absolutely incredible. He should be able to use this technology to progress and be better and better." © 2022 BBC.

Keyword: Robotics; Regeneration
Link ID: 28194 - Posted: 02.09.2022

Jon Hamilton Paul knew his young grandson was in danger. "Out of the corner of my eye I could see this little figure moving," he says. The figure was heading for a steep flight of stairs. But what could he do? Paul was sitting down. And after more than a decade of living with Parkinson's disease, getting out of a chair had become a long and arduous process. But not on this day. "Paul jumped up from the chair and ran to my grandson," says his wife, Rose. (The couple asked to be identified by only their first names to protect their medical privacy.) "I mean, he just got up like there was nothing and ran to pick up Max." Amazing. But it's also the kind of story that's become familiar to Peter Strick, professor and chair of neurobiology at the University of Pittsburgh and scientific director of the University of Pittsburgh Brain Institute. "It was a great example of what people call paradoxical kinesia," Strick says. "It was a description of just what we are studying." Article continues after sponsor message Paradoxical kinesia refers to the sudden ability of a person with Parkinson's to move quickly and fluidly, the way they did before the disease eroded a brain area involved in movement. The phenomenon is a variation of the placebo effect. But instead of being induced by the belief that a sugar pill is really medicine, it tends to appear in situations that involve stress or a strong emotion. For Paul, "it was the fear of his grandson falling down the stairs," says Strick, who learned about the event in an email from Rose. A treatment that's "all in your head" © 2022 npr

Keyword: Parkinsons; Emotions
Link ID: 28193 - Posted: 02.09.2022

by Holly Barker New software uses machine-learning to automatically detect and quantify gait and posture from videos of mice moving around their cage. The tool could accelerate research on how autism-linked mutations or drug treatments affect motor skills, says lead researcher Vivek Kumar, associate professor of mammalian genetics at The Jackson Laboratory in Bar Harbor, Maine. Most efforts to analyze motor behavior involve placing a mouse on a treadmill or training it to walk through a maze. These assays are a simple way of testing speed, but they restrict the animals’ movement and force mice to walk in an unnatural way. The algorithm processes footage from an overhead camera and tracks 12 key points on a mouse’s body as it freely explores its surroundings. As the animal wanders, the software detects the position of its limbs and other body parts, automatically generating data on its gait and posture. The researchers described their method in January in Cell Reports. Kumar’s group trained the software by feeding it about 8,000 video frames that had been manually annotated to tag key points on the animal’s body, such as the nose, ears and tip of the tail. They repeated the process with a variety of different strains to teach the algorithm to recognize mice of all shapes and sizes. The trained software learned to read the rodent’s pose, which was further analyzed to extract more detailed information, such as the speed and length of each stride and the width of the mouse’s stance. © 2022 Simons Foundation

Keyword: Autism; Movement Disorders
Link ID: 28186 - Posted: 02.05.2022

ByRodrigo Pérez Ortega A good workout doesn’t just boost your mood—it also boosts the brain’s ability to create new neurons. But exactly how this happens has puzzled researchers for years. “It’s been a bit of a black box,” says Tara Walker, a neuroscientist at the University of Queensland’s Brain Institute. Now, Walker and her colleagues think they have found a key: the chemical element selenium. During exercise, mice produce a protein containing selenium that helps their brains grow new neurons, the team reports today. Scientists may also be able to harness the element to help reverse cognitive decline due to old age and brain injury, the authors say. It’s a “fantastic” study, says Bárbara Cardoso, a nutritional biochemist at Monash University’s Victorian Heart Institute. Her own research has shown selenium—which is found in Brazil nuts, grains, and some legumes—improves verbal fluency and the ability to copy drawings correctly in older adults. “We could start thinking about selenium as a strategy” to treat or prevent cognitive decline in those who cannot exercise or are more vulnerable to selenium deficiency, she says, such as older adults, and stroke and Alzheimer’s disease patients. In 1999, researchers reported that running stimulates the brain to make new neurons in the hippocampus, a region involved in learning and memory. But which molecules were released into the bloodstream to spark this “neurogenesis” remained unclear. So 7 years ago, Walker and her colleagues screened the blood plasma of mice that had exercised on a running wheel in their cages for 4 days, versus mice that had no wheel. The team identified 38 proteins whose levels increased after the workout. © 2022 American Association for the Advancement of Science.

Keyword: Learning & Memory; Obesity
Link ID: 28185 - Posted: 02.05.2022

Rupert Neate The billionaire entrepreneur Elon Musk’s brain chip startup is preparing to launch clinical trials in humans. Musk, who co-founded Neuralink in 2016, has promised that the technology “will enable someone with paralysis to use a smartphone with their mind faster than someone using thumbs”. The Silicon Valley company, which has already successfully implanted artificial intelligence microchips in the brains of a macaque monkey named Pager and a pig named Gertrude, is now recruiting for a “clinical trial director” to run tests of the technology in humans. “As the clinical trial director, you’ll work closely with some of the most innovative doctors and top engineers, as well as working with Neuralink’s first clinical trial participants,” the advert for the role in Fremont, California, says. “You will lead and help build the team responsible for enabling Neuralink’s clinical research activities and developing the regulatory interactions that come with a fast-paced and ever-evolving environment.” Musk, the world’s richest person with an estimated $256bn fortune, said last month he was cautiously optimistic that the implants could allow tetraplegic people to walk. “We hope to have this in our first humans, which will be people that have severe spinal cord injuries like tetraplegics, quadriplegics, next year, pending FDA [Food and Drug Administration] approval,” he told the Wall Street Journal’s CEO Council summit. “I think we have a chance with Neuralink to restore full-body functionality to someone who has a spinal cord injury. Neuralink’s working well in monkeys, and we’re actually doing just a lot of testing and just confirming that it’s very safe and reliable and the Neuralink device can be removed safely.” © 2022 Guardian News & Media Limited

Keyword: Brain imaging; Robotics
Link ID: 28164 - Posted: 01.22.2022

By Linda Searing For people with early-stage Parkinson’s disease, four hours a week of moderate exercise may help slow the progression of the disease. Symptoms of Parkinson’s, which is a movement disorder, generally start gradually but worsen over time. FAQ: What to know about the omicron variant of the coronavirus But research published in the journal Neurology found that those who were regularly active for at least that amount of time — whether with traditional exercise or such physical activity as walking, gardening or dancing — had less decline in balance and walking ability, were better able to maintain daily activities and did better on cognitive tests five years later than those who exercised less. The researchers noted that the key to achieving these benefits was maintaining regular exercise over time, rather than how active people had been when their disease started. Parkinson’s, which is more common in men than women, usually begins about age 60 as nerve cells in the brain (neurons) become weak or damaged. Symptoms may include trembling or shaking (tremor), muscle stiffness (rigidity), slow movement (bradykinesia) and poor balance and coordination. As symptoms get worse, people may have trouble walking, talking or continuing to do routine daily activities. Although no cure exists for Parkinson’s, treatment — medication, surgery or electrical stimulation — can sometimes help ease some symptoms for a while. The researchers wrote, however, that “there is still no disease-modifying treatment to slow the disease’s progression.”

Keyword: Parkinsons
Link ID: 28157 - Posted: 01.19.2022

Meredith Wadman Progress in treating Parkinson’s disease—a progressive neurological illness that causes tremors, muscle rigidity, and dementia—has been painfully slow, in large part because scientists still don’t fully understand the molecular events that kill select brain cells. What they do know is Parkinson’s leaves behind a telltale mark: clumps of the misfolded alpha synuclein (αS) protein in the brains and guts of patients at autopsy. In its normal form, the protein is widely thought to help brain cells communicate, but researchers have now uncovered another role—αS plays an essential part in immune and inflammatory responses in the gut. The new work is “extremely well done and very exciting,” says physician-scientist Michael Schlossmacher, who studies Parkinson’s disease at the Ottawa Hospital Research Institute but was not involved with the study. He adds that the protein’s “pivotal role” in immunity may help explain why chronic infection or inflammation can lead to a higher risk of Parkinson’s. Others in the field, however, question the work’s relevance to the brain disorder. The dominant view among researchers is that misfolded αS aggregates and takes on new toxic properties, and some say the natural role of the protein, although interesting, may be irrelevant to pursuing needed treatments. Parkinson’s disease, the second most common neurodegenerative ailment after Alzheimer’s, affects one in 331, or about 1 million, people in the United States and at least 7 million people globally. Many patients are diagnosed in their 60s, as brain cells that make the neurotransmitter dopamine die and lead to symptoms. But the disease can also strike the young—including those who produce too much αS, or fail to break it down—because of rare genetic mutations. Other risk factors include sex—prevalence is 40% to 50% higher in men than in women—and some chronic inflammatory diseases, such as inflammatory bowel disease and chronic hepatitis C. Oral dopamine can mitigate symptoms, but the 60-year-old treatment isn’t a cure and ultimately fails to prevent worsening symptoms and death. © 2022 American Association for the Advancement of Science.

Keyword: Parkinsons
Link ID: 28155 - Posted: 01.15.2022

Leyland Cecco A whistleblower in the Canadian province of New Brunswick has warned that a progressive neurological illness that has baffled experts for more than two years appears to be affecting a growing number of young people and causing swift cognitive decline among some of the afflicted. Speaking to the Guardian, an employee with Vitalité Health Network, one of the province’s two health authorities, said that suspected cases are growing in number and that young adults with no prior health triggers are developing a catalog of troubling symptoms, including rapid weight loss, insomnia, hallucinations, difficulty thinking and limited mobility. The official number of cases under investigation, 48, remains unchanged since it was first announced in early spring 2021. But multiple sources say the cluster could now be as many as 150 people, with a backlog of cases involving young people still requiring further assessment. “I’m truly concerned about these cases because they seem to evolve so fast,” said the source. “I’m worried for them and we owe them some kind of explanation.” At the same time, at least nine cases have been recorded in which two people in close contact – but without genetic links – have developed symptoms, suggesting that environmental factors may be involved. One suspected case involved a man who was developing symptoms of dementia and ataxia. His wife, who was his caregiver, suddenly began losing sleep and experiencing muscle wasting, dementia and hallucinations. Now her condition is worse than his. A woman in her 30s was described as non-verbal, is feeding with a tube and drools excessively. Her caregiver, a nursing student in her 20s, also recently started showing symptoms of neurological decline. © 2021 Guardian News & Media Limited

Keyword: Movement Disorders; Alzheimers
Link ID: 28140 - Posted: 01.05.2022

By Nicholas Bakalar Need more incentive to get a flu shot, or to keep taking extra precautions this flu season? A new study suggests there may be a link between influenza infection and an increased risk for Parkinson’s disease. For decades, neurologists have suspected there may be a link between the flu and Parkinson’s disease, a chronic and progressive disorder of the nervous system marked by problems with movement, cognitive changes and a range of other symptoms. Several earlier studies, for example, reported a sharp increase in Parkinson’s cases following the 1918 influenza pandemic. Some cases of Parkinson’s have been linked to environmental exposures to pesticides and other toxic chemicals, and genetics may also play a role, but most cases of Parkinson’s have no known cause. Treatments for Parkinson’s can help delay its progression, but there is no known cure. The new study, using Danish health care databases, included 10,231 men and women who had been diagnosed with Parkinson’s between 2000 and 2016. Researchers compared them with 51,196 controls who were matched for age and sex. The researchers tracked influenza infections beginning in 1977 using hospital and outpatient discharge records. The report appeared in JAMA Neurology. Parkinson’s takes years, if not decades, to develop, and initially may produce only subtle symptoms like a hand tremor. It may take years for doctors to diagnose the condition, so any connection between a flu infection and the disease would be evident only many years later. The researchers found that compared with people who had not had a flu infection, those who had the flu had a 70 percent higher risk of Parkinson’s 10 years later, and a 90 percent higher risk 15 years after. © 2021 The New York Times Company

Keyword: Parkinsons
Link ID: 28127 - Posted: 12.29.2021

By Gretchen Reynolds People who work out regularly and are aerobically fit tend to guzzle a surprising amount of alcohol, according to a new study, well timed for the holidays, of the interplay between fitness, exercise and imbibing. The study, which involved more than 40,000 American adults, finds that active, physically fit men and women are more than twice as likely to be moderate or heavy drinkers as people who are out of shape. The results add to mounting evidence from previous studies — and many of our bar tabs — that exercise and alcohol frequently go hand in hand, with implications for the health effects of each. Many people, and some researchers, might be surprised to learn how much physically active people tend to drink. In general, people who take up one healthy habit, such as working out, tend to practice other salubrious habits, a phenomenon known as habit clustering. Fit, active people seldom smoke, for instance, and tend to eat healthful diets. So, it might seem logical that people who often exercise would drink alcohol sparingly. But multiple studies in recent years have found close ties between working out and tippling. In one of the earliest, from 2001, researchers used survey answers from American men and women to conclude that moderate drinkers, defined in that study as people who finished off about a drink a day, were twice as likely as those who didn’t drink at all to exercise regularly. Later studies found similar patterns among college athletes, who drank substantially more than other collegians, a population not famous for its temperance. © 2021 The New York Times Company

Keyword: Drug Abuse; Obesity
Link ID: 28121 - Posted: 12.22.2021

By Gretchen Reynolds Staying physically active as we age substantially drops our risk of developing dementia during our lifetimes, and it doesn’t require prolonged exercise. Walking or moving about, rather than sitting, may be all it takes to help bolster the brain, and a new study of octogenarians from Chicago may help to explain why. The study, which tracked how often older people moved or sat and then looked deep inside their brains after they passed away, found that certain vital immune cells worked differently in the brains of older people who were active compared to their more sedentary peers. Physical activity seemed to influence their brain’s health, their thinking abilities and whether they experienced the memory loss of Alzheimer’s disease. The findings add to growing evidence that when we move our bodies, we change our minds, no matter how advanced our age. Already, plenty of scientific evidence indicates that physical activity bulks up our brains. Older, sedentary people who begin walking for about an hour most days, for instance, typically add volume to their hippocampus, the brain’s memory center, reducing or reversing the shrinkage that otherwise commonly occurs there over the years. Active people who are middle-aged or older also tend to perform better on tests of memory and thinking skills than people of the same age who rarely exercise, and are nearly half as likely eventually to be diagnosed with Alzheimer’s disease. Almost as heartening, active people who do develop dementia usually show their first symptoms years later than inactive people do. But precisely how movement remodels our brains is still mostly mysterious, although scientists have hints from animal experiments. When adult lab mice and rats run on wheels, for example, they goose production of hormones and neurochemicals that prompt the creation of new neurons, as well as synapses, blood vessels and other tissues that connect and nurture those young brain cells. © 2021 The New York Times Company

Keyword: Alzheimers
Link ID: 28094 - Posted: 12.01.2021

Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in Niemann-Pick disease type C1 (NPC1), a rare genetic disorder affecting children and adolescents, suggests a study in mice by scientists at the National Institutes of Health. The study was conducted by Forbes D. Porter, M.D., Ph.D., of NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and colleagues in the National Human Genome Research Institute and National Institute of Arthritis and Musculoskeletal and Skin Disease. It appears in Molecular Genetics and Metabolism. The study was supported in part by a grant from the Ara Parseghian Medical Research Foundation. NPC1 results from an impaired ability to move cholesterol through cells, leading to difficulty controlling movements, liver and lung disease, impaired swallowing, intellectual decline and death. Much of the movement difficulties in NPC1 result from gradual loss of brain cells known as Purkinje neurons. The researchers found that mice with a form of NPC1 have a diminished ability to lower levels of glutamate — a brain chemical that stimulates neurons — after it has bound to a neuron’s surface. High levels of glutamate can be toxic to cells. The researchers believe the buildup of glutamate contributes to the brain cell loss seen in the disease. Riluzole blocks the release of glutamate and hence delays the progression of ALS in people.

Keyword: Movement Disorders
Link ID: 28083 - Posted: 11.20.2021

By Gina Kolata CAMBRIDGE, Mass. — When Sharif Tabebordbar was born in 1986, his father, Jafar, was 32 and already had symptoms of a muscle wasting disease. The mysterious illness would come to define Sharif’s life. Jafar Tabebordbar could walk when he was in his 30s but stumbled and often lost his balance. Then he lost his ability to drive. When he was 50, he could use his hands. Now he has to support one hand with another. No one could answer the question plaguing Sharif and his younger brother, Shayan: What was this disease? And would they develop it the way their father had? As he grew up and watched his father gradually decline, Sharif vowed to solve the mystery and find a cure. His quest led him to a doctorate in developmental and regenerative biology, the most competitive ranks of academic medical research, and a discovery, published in September in the journal Cell, that could transform gene therapy — medicine that corrects genetic defects — for nearly all muscle wasting diseases. That includes muscular dystrophies that affect about 100,000 people in the United States, according to the Muscular Dystrophy Association. Scientists often use a disabled virus called an adeno-associated virus, or AAV, to deliver gene therapy to cells. But damaged muscle cells like the ones that afflict Dr. Tabebordbar’s father are difficult to treat. Forty percent of the body is made of muscle. To get the virus to those muscle cells, researchers must deliver enormous doses of medication. Most of the viruses end up in the liver, damaging it and sometimes killing patients. Trials have been halted, researchers stymied. Dr. Tabebordbar managed to develop viruses that go directly to muscles — very few end up in the liver. His discovery could allow treatment with a fraction of the dosage, and without the disabling side effects. Dr. Jeffrey Chamberlain, who studies therapies for muscular diseases at the University of Washington and is not involved in Dr. Tabebordbar’s research, said the new method, “could take it to the next level,” adding that the same method also could allow researchers to accurately target almost any tissue, including brain cells, which are only beginning to be considered as gene therapy targets. © 2021 The New York Times Company

Keyword: Movement Disorders; Genes & Behavior
Link ID: 28066 - Posted: 11.06.2021

Abby Olena Delivering anything therapeutic to the brain has long been a challenge, largely due to the blood-brain barrier, a layer of cells that separates the vessels that supply the brain with blood from the brain itself. Now, in a study published August 12 in Nature Biotechnology, researchers have found that double-stranded RNA-DNA duplexes with attached cholesterol can enter the brains of both mice and rats and change the levels of targeted proteins. The results suggest a possible route to developing drugs that could target the genes implicated in disorders such as muscular dystrophy and amyotrophic lateral sclerosis (ALS). “It’s really exciting to have a study that’s focused on delivery to the central nervous system” with antisense oligonucleotides given systemically, says Michelle Hastings, who investigates genetic disease at the Rosalind Franklin University of Medicine and Science in Chicago and was not involved in the study. The authors “showed that it works for multiple targets, some clinically relevant.” In 2015, Takanori Yokota of Tokyo Medical and Dental University and colleagues published a study showing that a so-called heteroduplex oligonucleotide (HDO)—consisting of a short chain of both DNA and an oligonucleotide with modified bases paired with complementary RNA bound to a lipid on one end—was successful at decreasing target mRNA expression in the liver. Yokota’s team later joined forces with researchers at Ionis Pharmaceuticals to determine whether HDOs could cross the blood-brain barrier and target mRNA in the central nervous system. © 1986–2021 The Scientist.

Keyword: Genes & Behavior; ALS-Lou Gehrig's Disease
Link ID: 27998 - Posted: 09.18.2021

By Barbara Casassus PARIS—Five public research institutions in France have imposed a 3-month moratorium on the study of prions—a class of misfolding, infectious proteins that cause fatal brain diseases—after a retired lab worker who handled prions in the past was diagnosed with Creutzfeldt-Jakob disease (CJD), the most common prion disease in humans. An investigation is underway to find out whether the patient, who worked at a lab run by the National Research Institute for Agriculture, Food and Environment (INRAE), contracted the disease on the job. If so, it would be the second such case in France in the past few years. In June 2019, an INRAE lab worker named Émilie Jaumain died at age 33, 10 years after pricking her thumb during an experiment with prion-infected mice. Her family is now suing INRAE for manslaughter and endangering life; her illness had already led to tightened safety measures at French prion labs. The aim of the moratorium, which affects nine labs, is to “study the possibility of a link with the [new patient’s] former professional activity and if necessary to adapt the preventative measures in force in research laboratories,” according to a joint press release issued by the five institutions yesterday. “This is the right way to go in the circumstances,” says Ronald Melki, a structural biologist at a prion lab jointly operated by the French national research agency CNRS and the French Alternative Energies and Atomic Energy Commission (CEA). “It is always wise to ask questions about the whole working process when something goes wrong.” "The occurrence of these harsh diseases in two of our scientific colleagues clearly affects the whole prion community, which is a small 'familial' community of less than 1000 people worldwide," Emmanuel Comoy, deputy director of CEA's Unit of Prion Disorders and Related Infectious Agents, writes in an email to Science. Although prion research already has strict safety protocols, "it necessarily reinforces the awareness of the risk linked to these infectious agents," he says. © 2021 American Association for the Advancement of Science.

Keyword: Prions
Link ID: 27925 - Posted: 07.28.2021

By Pam Belluck He has not been able to speak since 2003, when he was paralyzed at age 20 by a severe stroke after a terrible car crash. Now, in a scientific milestone, researchers have tapped into the speech areas of his brain — allowing him to produce comprehensible words and sentences simply by trying to say them. When the man, known by his nickname, Pancho, tries to speak, electrodes implanted in his brain transmit signals to a computer that displays his intended words on the screen. His first recognizable sentence, researchers said, was, “My family is outside.” The achievement, published on Wednesday in the New England Journal of Medicine, could eventually help many patients with conditions that steal their ability to talk. “This is farther than we’ve ever imagined we could go,” said Melanie Fried-Oken, a professor of neurology and pediatrics at Oregon Health & Science University, who was not involved in the project. Three years ago, when Pancho, now 38, agreed to work with neuroscience researchers, they were unsure if his brain had even retained the mechanisms for speech. “That part of his brain might have been dormant, and we just didn’t know if it would ever really wake up in order for him to speak again,” said Dr. Edward Chang, chairman of neurological surgery at University of California, San Francisco, who led the research. The team implanted a rectangular sheet of 128 electrodes, designed to detect signals from speech-related sensory and motor processes linked to the mouth, lips, jaw, tongue and larynx. In 50 sessions over 81 weeks, they connected the implant to a computer by a cable attached to a port in Pancho’s head, and asked him to try to say words from a list of 50 common ones he helped suggest, including “hungry,” “music” and “computer.” As he did, electrodes transmitted signals through a form of artificial intelligence that tried to recognize the intended words. © 2021 The New York Times Company

Keyword: Brain imaging; Language
Link ID: 27913 - Posted: 07.17.2021