by Calli McMurray One of the co-directors of a now-shuttered Maryland psychology clinic implicated in 18 paper retractions has retired, Spectrum has learned. Prior to her retirement, Clara Hill was professor of psychology at the University of Maryland in College Park. Headshot of Clara Hill. Recent retirement: Clara Hill retired from the University of Maryland in the midst of 18 paper retractions after a 49-year career. Starting on 1 June, the American Psychological Association (APA) retracted 11 papers by Hill and her university colleagues Dennis Kivlighan, Jr. and Charles Gelso over issues with obtaining participant consent. The publisher plans to retract six more papers by the end of the year, according to an APA representative. On 13 August, Taylor & Francis retracted an additional paper led solely by Hill. The research was conducted at the Maryland Psychotherapy Clinic and Research Lab, where Hill, Kivlighan and Gelso were co-directors. The clinic had shut down as of 1 June. When asked about the circumstances surrounding Hill’s retirement, a university spokesperson told Spectrum in an email, “Dr. Clara Hill retired from UMD effective July 1, 2023.” After Spectrum asked again about the circumstances, a spokesperson replied, “This is all we’ll have for you on the faculty member’s retirement — thanks!” Hill worked at the university for 49 years. As of 1 August, Hill’s faculty page did not mention her retirement. By 14 August, her position had been amended to “Professor (Retired),” and a notice of her retirement had been added to the beginning of her biography. Spectrum left two voicemails on Hill’s university office phone and emailed her university address with requests for comment but did not hear back. The 11 papers retracted by the APA appeared in the Journal of Counseling Psychology, Dreaming and Psychotherapy. The additional retractions will come from the same titles, according to an APA representative. Hill conducted all 11 studies, whereas Kivlighan and Gelso conducted 10 and 6, respectively. © 2023 Simons Foundation

Keyword: Autism
Link ID: 28877 - Posted: 08.24.2023

Saima May Sidik A protein involved in wound healing can improve learning and memory in ageing mice1. Platelet factor 4 (PF4) has long been known for its role in promoting blood clotting and sealing broken blood vessels. Now, researchers are wondering whether this signalling molecule could be used to treat age-related cognitive disorders such as Alzheimer’s disease. “The therapeutic possibilities are very exciting,” says geneticist and anti-ageing scientist David Sinclair at Harvard University in Boston, Massachusetts, who was not involved in the research. The study was published on 16 August in Nature. Young blood, old brains About a decade ago, scientists discovered that blood from young mice could restore youthful properties, including learning abilities, in older mice2,3. The idea captivated Saul Villeda, a neuroscientist at the University of California, San Francisco, and a co-author of the new study. He and his colleagues have since been trying to identify the components of blood that cause this rejuvenation. Several lines of evidence suggested that PF4 might be one of these components, including the fact that young mice have higher levels of this molecule in their blood than do older mice. Villeda and his colleagues tried injecting PF4 into aged mice without including other blood components. The researchers found that the ratios of various types of immune cell shifted to become more similar to what is typically seen in younger mice. Some immune cells also reverted to a more youthful pattern of gene expression. Although PF4 was not able to cross the blood–brain barrier, its effects on the immune system also led to changes in the brain, probably through indirect mechanisms. Old mice that received doses of PF4 showed decreases in damaging inflammation in the hippocampus — a part of the brain that’s particularly vulnerable to the effects of ageing. They also showed increases in the levels of molecules that promote synaptic plasticity (the capacity to alter the strength of connections between nerve cells). © 2023 Springer Nature Limited

Keyword: Development of the Brain
Link ID: 28874 - Posted: 08.19.2023

by Giorgia Guglielmi Mice with a mutation that boosts the activity of the autism-linked protein UBE3A show an array of behaviors reminiscent of the condition, a new study finds. The behaviors differ depending on whether the animals inherit the mutation from their mother or their father, the work also reveals. The results add to mounting evidence that hyperactive UBE3A leads to autism. Duplications of the chromosomal region that includes UBE3A have been associated with autism, whereas deletions and mutations that destroy the gene’s function are known to cause Angelman syndrome, which is characterized by developmental delay, seizures, lack of speech, a cheerful demeanor and, often, autism. “UBE3A is on a lot of clinicians’ radar because it is well known to be causative for Angelman syndrome when mutated or deleted,” says lead investigator Mark Zylka, professor of cell biology and physiology at the University of North Carolina at Chapel Hill. “What our study shows is that just because you have a mutation in UBE3A, it doesn’t mean that it’s going to be Angelman syndrome.” In the cell, UBE3A is involved in the degradation of proteins, and “gain-of-function” mutations — which send the UBE3A protein into overdrive — result in enhanced degradation of its targets, including UBE3A itself. Studying the effects of these mutations could provide insight into how they affect brain development and suggest targets for therapies, says study investigator Jason Yi, assistant professor of neuroscience at Washington University in St. Louis, Missouri. Gain-of-function mutations in UBE3A can disrupt early brain development and may contribute to neurodevelopmental conditions that are distinct from Angelman syndrome, Yi and Zylka have shown in previous studies. One of the mutations they analyzed had been found in an autistic child, so the team used CRISPR to create mice with this mutation. © 2023 Simons Foundation

Keyword: Autism
Link ID: 28857 - Posted: 07.27.2023

Lilly Tozer A study that followed thousands of people over 25 years has identified proteins linked to the development of dementia if their levels are unbalanced during middle age. The findings, published in Science Translational Medicine on 19 July1, could contribute to the development of new diagnostic tests, or even treatments, for dementia-causing diseases. Most of the proteins have functions unrelated to the brain. “We’re seeing so much involvement of the peripheral biology decades before the typical onset of dementia,” says study author Keenan Walker, a neuroscientist at the US National Institute on Aging in Bethesda, Maryland. Equipped with blood samples from more than 10,000 participants, Walker and his colleagues questioned whether they could find predictors of dementia years before its onset by looking at a person’s proteome — the collection of all the proteins expressed throughout the body. They searched for any signs of dysregulation — when proteins are at levels much higher or lower than normal. The samples were collected as part of an ongoing study that began in 1987. Participants returned for examination six times over three decades, and during this time, around 1 in 5 of them developed dementia. The researchers found 32 proteins that, if dysregulated in people aged 45 to 60, were strongly associated with an elevated chance of developing dementia in later life. It is unclear how exactly these proteins might be involved in the disease, but the link is “highly unlikely to be due to just chance alone”, says Walker © 2023 Springer Nature Limited

Keyword: Alzheimers
Link ID: 28856 - Posted: 07.22.2023

By Pam Belluck Treating Alzheimer’s patients as early as possible — when symptoms and brain pathology are mildest — provides a better chance of slowing cognitive decline, a large study of an experimental Alzheimer’s drug presented Monday suggests. The study of 1,736 patients reported that the drug, donanemab, made by Eli Lilly, can modestly slow the progression of memory and thinking problems in early stages of Alzheimer’s, and that the slowing was greatest for early-stage patients when they had less of a protein that creates tangles in the brain. For people at that earlier stage, donanemab appeared to slow decline in memory and thinking by about four and a half to seven and a half months over an 18-month period compared with those taking a placebo, according to the study, published in the journal JAMA. Among people with less of the protein, called tau, slowing was most pronounced in those younger than 75 and those who did not yet have Alzheimer’s but had a pre-Alzheimer’s condition called mild cognitive impairment, according to data presented Monday at the Alzheimer’s Association International Conference in Amsterdam. “The earlier you can get in there, the more you can impact it before they’ve already declined and they’re on this fast slope,” Dr. Daniel Skovronsky, Eli Lilly’s chief medical and scientific officer, said in an interview. “No matter how you cut the data — earlier, younger, milder, less pathology — every time, it just looks like early diagnosis and early intervention are the key to managing this disease,” he added. The findings and the recent approval of another drug that modestly slows decline in the early stages of Alzheimer’s, Leqembi, signal a potentially promising turn in the long, rocky path toward finding effective medications for Alzheimer’s, a brutal disease that plagues more than six million Americans. Donanemab is currently being considered for approval by the Food and Drug Administration. © 2023 The New York Times Company

Keyword: Alzheimers
Link ID: 28852 - Posted: 07.19.2023

Nicola Davis Science correspondent Taking part in activities such as chess, writing a journal, or educational classes in older age may help to reduce the risk of dementia, a study has suggested. According to the World Health Organization, more than 55 million people have the disease worldwide, most of them older people. However experts have long emphasised that dementia is not an inevitable part of ageing, with being active, eating well and avoiding smoking among the lifestyle choices that can reduce risk. Now researchers have revealed fresh evidence that challenging the brain could also be beneficial. Writing in the journal Jama Network Open, researchers in the US and Australia report how they used data from the Australian Aspree Longitudinal Study of Older Persons covering the period from 1 March 2010 to 30 November 2020. Participants in the study were over the age of 70, did not have a major cognitive impairment or cardiovascular disease when recruited between 2010 and 2014, and were assessed for dementia through regular study visits. In the first year, participants were asked about their social networks. They were also questioned on whether they undertook certain leisure activities or trips out to venues such as galleries or restaurants, and how frequently: never, rarely, sometimes, often or always. The team analysed data from 10,318 participants, taking into account factors such as age, sex, smoking status, education, socioeconomic status, and whether participants had other diseases such as diabetes. The results reveal that for activities such as writing letters or journals, taking educational classes or using a computer, increasing the frequency of participation by one category, for example from “sometimes” to “often”, was associated with an 11% drop in the risk of developing dementia over a 10-year period. Similarly, increased frequency of activities such as card games, chess or puzzle-solving was associated with a 9% reduction in dementia risk. © 2023 Guardian News & Media Limited

Keyword: Alzheimers; Learning & Memory
Link ID: 28851 - Posted: 07.19.2023

Lilly Tozer Injecting ageing monkeys with a ‘longevity factor’ protein can improve their cognitive function, a study reveals. The findings, published on 3 July in Nature Aging1, could lead to new treatments for neurodegenerative diseases. It is the first time that restoring levels of klotho — a naturally occurring protein that declines in our bodies with age — has been shown to improve cognition in a primate. Previous research on mice had shown that injections of klotho can extend the animals’ lives and increases synaptic plasticity2 — the capacity to control communication between neurons, at junctions called synapses. “Given the close genetic and physiological parallels between primates and humans, this could suggest potential applications for treating human cognitive disorders,” says Marc Busche, a neurologist at the UK Dementia Research Institute group at University College London. The protein is named after the Greek goddess Clotho, one of the Fates, who spins the thread of life. The study involved testing the cognitive abilities of old rhesus macaques (Macaca mulatta), aged around 22 years on average, before and after a single injection of klotho. To do this, researchers used a behavioural experiment to test for spatial memory: the monkeys had to remember the location of an edible treat, placed in one of several wells by the investigator, after it was hidden from them. Study co-author Dena Dubal, a physician-researcher at the University of California, San Francisco, compares the test to recalling where you left your car in a car park, or remembering a sequence of numbers a couple of minutes after hearing it. Such tasks become harder with age. The monkeys performed significantly better in these tests after receiving klotho — before the injections they identified the correct wells around 45% of the time, compared with around 60% of the time after injection. The improvement was sustained for at least two weeks. Unlike in previous studies involving mice, relatively low doses of klotho were effective. This adds an element of complexity to the findings, which suggests a more nuanced mode of actions than was previously thought, Busche says. © 2023 Springer Nature Limited

Keyword: Learning & Memory; Development of the Brain
Link ID: 28847 - Posted: 07.06.2023

By Tammy Worth In two decades as a pediatrician, Jason Reynolds has had no success treating patients with opioid use disorder by sending them to rehab. But five years ago, when his Massachusetts practice, Wareham Pediatric Associates PC, became the first in the state to offer medication therapy to adolescent patients, he saw dramatic results. The first patient he treated with medication, a young man named Nate, had overdosed on opioids twice in the 24-hour period before seeing Reynolds. But that patient has had no opioid relapses since starting drug therapy. Reynolds’ success received a lot of media attention, and one interviewer, he recalls, asked Nate if any of his friends would also consider starting the treatment. Reynolds is among a small minority of pediatricians using medication to treat opioid use disorder in adolescents. Fewer than 2 percent of all physicians prescribing the medications are pediatricians, and many youth rehabilitation facilities don’t offer them at all. Medication for opioid use disorder (MOUD) uses buprenorphine or methadone to reduce cravings and withdrawal symptoms, or naltrexone to block the high that users would otherwise get if they decided to use opioids. Though MOUD is often used to treat adults, several barriers have prevented it from being adopted more widely for youth. Reynolds and a handful of other practitioners across the country are now working to provide education and training to other health care providers, hoping to increase use of this life-saving treatment. Opioid use among US youth is on the rise nationally, with diagnoses increasing from 0.26 per 100,000 person-years in 2001 to 1.51 in 2014. Overdose deaths have also spiked, more than doubling among youth ages 14 to 18, from 492 in 2019 to 1,146 in 2021. © 2023 Annual Reviews

Keyword: Drug Abuse; Development of the Brain
Link ID: 28844 - Posted: 07.06.2023

By Claudia Lopez Lloreda There are plenty of reasons to get off your duff and exercise—but is improving your brain one of them? The U.S. Centers for Disease Control and Prevention touts exercise as a way to “boost brain health,” while the World Health Organization suggests that about 2 hours of moderate activity or 75 minutes of vigorous activity per week can help improve thinking and memory skills. But new research reveals a more complex picture. One recent review of the literature suggests the studies tying exercise to brain health may have important limitations, including small sample sizes. Other studies suggest there is no one-size-fits-all approach to exercising as a way to boost cognition or prevent age-related cognitive decline. Still others indicate exercise may actually be harmful in people with certain medical conditions. Here’s the latest on what we know. What is the science linking exercise and improved brain function? Many studies correlate participants’ self-reported exercise with scores on cognitive tests, or track the effects of randomizing participants into groups that either exercise or remain sedentary. They typically find that the more physical activity a person does, the better their cognition. This result holds for healthy people, stroke survivors, and those with other neurological conditions such as Alzheimer’s disease. A study published earlier this year relied on genetic data to explore the effects of exercise. A team led by sports scientist Boris Cheval at the University of Geneva grouped about 350,000 people in the United Kingdom according to genetic variants associated with more or less physical activity. Those with an apparent genetic predisposition to be more active also tended to perform better on a set of cognitive tests, the researchers concluded in Scientific Reports. Other studies have focused on age-related cognitive decline. Research published in February in the Journal of Neurology, Neurosurgery & Psychiatry tracked more than 1400 people for 30 years, showing that more physical activity was associated with better cognitive performance at age 69.

Keyword: Development of the Brain; Alzheimers
Link ID: 28838 - Posted: 07.01.2023

By Harrison Smith As a young boy in small-town Mississippi, Donald Triplett was oddly distant, with no apparent interest in his parents or anyone else who tried to make conversation. He was obsessed with spinning round objects and had an unusual way of speaking, substituting “you” for “I” and repeating words like “business” and “chrysanthemum.” He also showed a savant-like brilliance, naming notes as they were played on the piano and performing mental calculations with ease. When a visitor asked “87 times 23,” he didn’t hesitate before answering — correctly — “2,001.” Mr. Triplett would make medical history as “Case 1,” the first person formally diagnosed with autism. His upbringing and behavior were described at length in a 1943 scientific article by Austrian American psychiatrist Leo Kanner, “Autistic Disturbances of Affective Contact,” which outlined the developmental disability now known as autism spectrum disorder, or ASD. The article went on to describe 10 other autistic children, most of whom were locked away in state schools and hospitals while experiencing communication and behavior challenges. Checking in with his former subjects almost 30 years later, Kanner would write that institutionalization was “tantamount to a life sentence … a total retreat to near-nothingness.” Mr. Triplett, by contrast, gained acceptance and admiration while remaining a part of his community. With support from his family, which could afford to send him to Kanner and which later set up a trust fund to look after him, he graduated from college, got a job as a bank teller and found companionship in a morning coffee club at City Hall. He played golf, sang in a choir and traveled the world, visiting at least three-dozen countries and making it to Hawaii 17 times. By choice, he traveled alone, surprising relatives when he would announce at Sunday dinner that he had recently returned from seeing a golf tournament in California or, in search of an oyster dinner, driven his Cadillac to New Orleans.

Keyword: Autism
Link ID: 28826 - Posted: 06.21.2023

By Claudia Lopez Lloreda A baby born through the vaginal canal picks up critical microbes along the way that help it stay healthy later in life. But babies delivered via cesarean section miss out on those useful, gut-colonizing bacteria, which may put them at greater risk of developing certain health conditions and developmental disorders. Now, researchers at Southern Medical University say that by exposing C-section babies to the microbes they’ve missed—an intervention called vaginal seeding—doctors can partially restore these missing gut bacteria. The procedure may even aid in their early development. Newborns delivered via C-section who received their mother’s vaginal microbes had more advanced motor and communication skills than other C-section babies months later, the team reports today in Cell Host & Microbe. But some clinicians argue these benefits for infants have not yet been proved, nor has the procedure’s safety. “This study establishes a link showing that there is a possible benefit in a select group of infants and mothers,” says Mehreen Zaigham, an obstetrician at Lund University who was not involved in the study. “But it has to be proven with larger longitudinal studies.” The microbiomes of C-section babies look a lot different from those of babies born vaginally. In particular, they have lower numbers of Lactobacillus, Escherichia, and Bacteroides bacteria in their guts. These microbes are believed to be critical for growth and are thought to help protect against asthma, allergies, obesity, and autoimmune disorders—all conditions that are more common among C-section babies. A few highly controversial studies have suggested some babies delivered by C-section may be at a greater risk of developing neurodevelopmental conditions such as autism spectrum disorder, which some researchers attribute to their disrupted microbiome. Other researchers have roundly criticized that suggestion, however. To restore the microbiomes of infants delivered by C-section, researchers have come up with a simple solution: Swab them with bacteria from their mother’s vagina shortly after they are born. This method, called vaginal seeding, was first clinically tested 7 years ago by Jose Clemente, a geneticist at the Icahn School of Medicine at Mount Sinai, and Maria Gloria Dominguez Bello, a microbial ecologist at Rutgers University, who found the procedure indeed restored microbes that C-section babies lacked. However, these results were based on a small group of just 11 babies.

Keyword: Development of the Brain; Neuroimmunology
Link ID: 28824 - Posted: 06.17.2023

By Jordan Kinard Long the fixation of religions, philosophy and literature the world over, the conscious experience of dying has recently received increasingly significant attention from science. This comes as medical advances extend the ability to keep the body alive, steadily prying open a window into the ultimate locked room: the last living moments of a human mind. “Around 1959 humans discovered a method to restart the heart in people who would have died, and we called this CPR,” says Sam Parnia, a critical care physician at NYU Langone Health. Parnia has studied people’s recollections after being revived from cardiac arrest—phenomena that he refers to as “recalled experiences surrounding death.” Before CPR techniques were developed, cardiac arrest was basically synonymous with death. But now doctors can revive some people up to 20 minutes or more after their heart has stopped beating. Furthermore, Parnia says, many brain cells remain somewhat intact for hours to days postmortem—challenging our notions of a rigid boundary between life and death. Advancements in medical technology and neuroscience, as well as shifts in researchers’ perspectives, are revolutionizing our understanding of the dying process. Research over the past decade has demonstrated a surge in brain activity in human and animal subjects undergoing cardiac arrest. Meanwhile large surveys are documenting the seemingly inexplicable periods of lucidity that hospice workers and grieving families often report witnessing in people with dementia who are dying. Poet Dylan Thomas famously admonished his readers, “Do not go gentle into that good night. Rage, rage against the dying of the light.” But as more resources are devoted to the study of death, it is becoming increasingly clear that dying is not the simple dimming of one’s internal light of awareness but rather an incredibly active process in the brain. © 2023 Scientific American,

Keyword: Attention; Development of the Brain
Link ID: 28820 - Posted: 06.14.2023

By Kate Laskowski In the age-old debate about nature versus nurture — whether our characteristics are forged by our genes or our upbringing — I have an answer for you. It is both. And it is neither. I’m a behavioral ecologist who seeks to answer this question by studying a particular kind of fish. The Amazon molly (Poecilia formosa) is an experimental goldmine for these types of questions. She naturally clones herself by giving birth to offspring with identical genomes to her own and to each other’s. A second quirk of this little fish is that her offspring are born live and are completely independent from birth. This means I can control their experiences from the earliest possible age. Essentially, this fish gives me and my colleagues the opportunity to perform “twin studies” to understand how and why individuality develops. And what we’ve found may surprise you. As humans, we know the critical importance of our personalities. These persistent differences among us shape how we navigate our worlds and respond to major life events; whether we are bold or shy; whether we ask someone on a second date or not. Given the obvious importance of personality, it’s perhaps a bit surprising that scientists generally overlooked these kinds of differences in other species for a long time. Up until about 30 years ago, these differences (what I prefer to call “individuality,” as it avoids the human connotation of “personality”) were typically viewed as cute anecdotes with little evolutionary importance. Instead, researchers focused on the typical behavior of a given population. With guppies, for example — a classic workhorse of behavioral ecology research — researchers found that fish will, on average, swim more tightly together if they live among lots of predatory fish, whereas fish from areas with fewer predators spend less time schooling and more time fighting one another, as they don’t have to worry so much about being eaten. © 2023 Annual Reviews

Keyword: Development of the Brain; Genes & Behavior
Link ID: 28815 - Posted: 06.07.2023

Sara Reardon Vaccination against shingles might also prevent dementia, such as that caused by Alzheimer’s disease, according to a study of health records from around 300,000 people in Wales. The analysis found that getting the vaccine lowers the risk of dementia by 20%. But some puzzling aspects of the analysis have stirred debate about the work’s robustness. The study was published on the medRxiv preprint server on 25 May and has not yet been peer reviewed. “If it is true, it’s huge,” says Alberto Ascherio, an epidemiologist at Harvard University in Cambridge, Massachusetts, who was not involved in the study. “Even a modest reduction in risk is a tremendous impact.” Dementia–infection link The idea that viral infection can play a part in at least some dementia cases dates back to the 1990s, when biophysicist Ruth Itzhaki at the University of Manchester, UK, and her colleagues found herpesviruses in the brains of deceased people with dementia2. The theory has been controversial among Alzheimer’s researchers. But recent work has suggested that people infected with viruses that affect the brain have higher rates of neurodegenerative diseases3. Research has also suggested that those vaccinated against certain viral diseases are less likely to develop dementia4. But all these epidemiological studies have shared a key problem: people who get any type of vaccination tend to have healthier lifestyles than those who don’t5, meaning that other factors could account for their lowered risk of diseases such as Alzheimer’s. With that in mind, epidemiologist Pascal Geldsetzer at Stanford University in California and his colleagues turned to a natural experiment: a shingles vaccination programme in Wales, which began on 1 September 2013. Shingles is caused by the reawakening of inactive varicella zoster virus (VZV), the herpesvirus that causes chickenpox and which is present in most people. Shingles is most common in older adults and can cause severe pain and rashes. © 2023 Springer Nature Limited

Keyword: Alzheimers; Neuroimmunology
Link ID: 28814 - Posted: 06.07.2023

Davide Castelvecchi The wrinkles that give the human brain its familiar walnut-like appearance have a large effect on brain activity, in much the same way that the shape of a bell determines the quality of its sound, a study suggests1. The findings run counter to a commonly held theory about which aspect of brain anatomy drives function. The study’s authors compared the influence of two components of the brain’s physical structure: the outer folds of the cerebral cortex — the area where most higher-level brain activity occurs — and the connectome, the web of nerves that links distinct regions of the cerebral cortex. The team found that the shape of the outer surface was a better predictor of brainwave data than was the connectome, contrary to the paradigm that the connectome has the dominant role in driving brain activity. “We use concepts from physics and engineering to study how anatomy determines function,” says study co-author James Pang, a physicist at Monash University in Melbourne, Australia. The results were published in Nature on 31 May1. ‘Exciting’ a neuron makes it fire, which sends a message zipping to other neurons. Excited neurons in the cerebral cortex can communicate their state of excitation to their immediate neighbours on the surface. But each neuron also has a long filament called an axon that connects it to a faraway region within or beyond the cortex, allowing neurons to send excitatory messages to distant brain cells. In the past two decades, neuroscientists have painstakingly mapped this web of connections — the connectome — in a raft of organisms, including humans. The authors wanted to understand how brain activity is affected by each of the ways in which neuronal excitation can spread: across the brain’s surface or through distant interconnections. To do so, the researchers — who have backgrounds in physics and neuroscience — tapped into the mathematical theory of waves.

Keyword: Brain imaging; Development of the Brain
Link ID: 28811 - Posted: 06.03.2023

By Robert Martone Neurological conditions can release a torrent of new creativity in a few people as if opening some mysterious floodgate. Auras of migraine and epilepsy may have influenced a long list of artists, including Pablo Picasso, Vincent van Gogh, Edvard Munch, Giorgio de Chirico, Claude Monet and Georges Seurat. Traumatic brain injury (TBI) can result in original thinking and newfound artistic drive. Emergent creativity is also a rare feature of Parkinson’s disease. But this burst of creative ability is especially true of frontotemporal dementia (FTD). Although a few rare cases of FTD are linked to improvements in verbal creativity, such as greater poetic gifts and increased wordplay and punning, enhanced creativity in the visual arts is an especially notable feature of the condition. Fascinatingly, this burst of creativity indicates that the potential to create may rest dormant in some of us, only to be unleashed by a disease that also causes a loss of verbal abilities. The emergence of a vibrant creative spark in the face of devastating neurological disease speaks to the human brain’s remarkable potential and resilience. A new study published in JAMA Neurology examines the roots of this phenomenon and provides insight into a possible cause. As specific brain areas diminish in FTD, the researchers find, they release their inhibition, or control, of other regions that support artistic expression. Frontotemporal dementia is relatively rare—affecting about 60,000 people in the U. S.—and distinct from the far more common Alzheimer’s disease, a form of dementia in which memory deficits predominate. FTD is named for the two brain regions that can degenerate in this disease, specifically the frontal and temporal lobes.

Keyword: Alzheimers; Attention
Link ID: 28797 - Posted: 05.27.2023

By Jennie Erin Smith José Echeverría spends restless days in a metal chair reinforced with boards and padded with a piece of foam that his mother, Nohora Vásquez, adjusts constantly for his comfort. The chair is coming loose and will soon fall apart. Huntington’s disease, which causes José to move his head and limbs uncontrollably, has already left one bed frame destroyed. At 42, he is still strong. José’s sister Nohora Esther Echeverría, 37, lives with her mother and brother. Just two years into her illness, her symptoms are milder than his, but she is afraid to walk around her town’s steep streets, knowing she could fall. A sign on the front door advertises rum for sale that does not exist. The family’s scarce resources now go to food — José and Nohora Esther must eat frequently or they will rapidly lose weight — and medical supplies, like a costly cream for Jose’s skin. Huntington’s is a hereditary neurodegenerative disease caused by excess repetitions of three building blocks of DNA — cytosine, adenine, and guanine — on a gene called huntingtin. The mutation results in a toxic version of a key brain protein, and a person’s age at the onset of symptoms relates, roughly, to the number of repetitions the person carries. Early symptoms can include mood disturbances — Ms. Vásquez remembers how her late husband had chased the children out of their beds, forcing her to sleep with them in the woods — and subtle involuntary movements, like the rotations of Nohora Esther’s delicate wrists. The disease is relatively rare, but in the late 1980s a Colombian neurologist, Jorge Daza, began observing a striking number of cases in the region where Ms. Vásquez lives, a cluster of seaside and mountain towns near Barranquilla. Around the same time, American scientists led by Nancy Wexler were working with an even larger family with Huntington’s in neighboring Venezuela, gathering and studying thousands of tissue samples from them to identify the genetic mutation responsible. © 2023 The New York Times Company

Keyword: Huntingtons; Genes & Behavior
Link ID: 28796 - Posted: 05.23.2023

Sara Reardon Researchers have identified a man with a rare genetic mutation that protected him from developing dementia at an early age. The finding, published on 15 May in Nature Medicine1, could help researchers to better understand the causes of Alzheimer’s disease and potentially lead to new treatments. For nearly 40 years, neurologist Francisco Lopera at the University of Antioquia in Medellín, Colombia, has been following an extended family whose members develop Alzheimer’s in their forties or earlier. Many of the approximately 6,000 family members carry a genetic variant called the paisa mutation that inevitably leads to early-onset dementia. But now, Lopera and his collaborators have identified a family member with a second genetic mutation — one that protected him from dementia until age 67. “Reading that paper made the hair on my arms stand up,” says neuroscientist Catherine Kaczorowski at the University of Michigan in Ann Arbor. “It’s just such an important new avenue to pursue new therapies for Alzheimer’s disease.” Lopera and his colleagues analysed the genomes and medical histories of 1,200 Colombians with the paisa mutation, which causes dementia around ages 45—50. They identified the man with the second mutation when he was 67 and had only mild cognitive impairment. When the researchers scanned his brain, they found high levels of the sticky protein complexes known as amyloid plaques, which are thought to kill neurons and cause dementia, as well as a protein called tau that accumulates as the disease progresses. The brain looked like that of a person with severe dementia, says study co-author Joseph Arboleda, an ophthalmologist at Harvard Medical School in Boston, Massachusetts. But a small brain area called the entorhinal cortex, which coordinates skills such as memory and navigation, had low levels of tau. © 2023 Springer Nature Limited

Keyword: Alzheimers; Genes & Behavior
Link ID: 28786 - Posted: 05.18.2023

By Cordula Hölig, Brigitte Röder, Ramesh Kekunnaya Growing up in poverty or experiencing any adversity, such as abuse or neglect, during early childhood can put a person at risk for poor health, including mental disorders, later in life. Although the underlying mechanisms are poorly understood, some studies have shown that adverse early childhood experience leaves persisting (and possibly irreversible) traces in brain structure. As neuroscientists who are investigating sensitive periods of human brain development, we agree: safe and nurturing environments are a prerequisite for healthy brain development and lifelong well-being. Thus, preventing early childhood adversity undoubtedly leads to healthier lives. Poverty and adversity can cause changes in brain development. Harms can come from exposure to violence or toxins or a lack of nutrition, caregiving, perceptual and cognitive stimulation or language interaction. Neuroscientists have demonstrated that these factors crucially influence human brain development. Advertisement We don’t know whether these changes are reversed by more favorable circumstances later in life, however. Investigating this question in humans is extremely difficult. For one, multiple biological and psychological factors through which poverty and adversity affect brain development are hard to disentangle. That’s because they often occur together: a neglected child often experiences a lack of caregiving simultaneously with malnutrition and exposure to physical violence. Secondly, a clear beginning and end of an adverse experience is hard to define. Finally, it is almost impossible to fully reverse harsh environments in natural settings because most of the time it is impossible to move children out of their families or communities.. © 2023 Scientific American

Keyword: Development of the Brain; Learning & Memory
Link ID: 28783 - Posted: 05.13.2023

Scientists at the National Institutes of Health have identified new genetic risk factors for two types of non-Alzheimer’s dementia. These findings were published in Cell Genomics and detail how researchers identified large-scale DNA changes, known as structural variants, by analyzing thousands of DNA samples. The team discovered several structural variants that could be risk factors Lewy body dementia (LBD) and frontotemporal dementia (FTD). The project was a collaborative effort between scientists at the National Institute of Neurological Disorders and Stroke (NINDS) and the National Institute on Aging (NIA) at NIH. Structural variants have been implicated in a variety of neurological disorders. Unlike more commonly studied mutations, which often affect one or a few DNA building blocks called nucleotides, structural variants represent at least 50 but often hundreds, or even thousands, of nucleotides at once, making them more challenging to study. “If you imagine that our entire genetic code is a book, a structural variant would be a paragraph, page, or even an entire chapter that has been removed, duplicated, or inserted in the wrong place,” said Sonja W. Scholz, M.D., Ph.D., investigator in the neurogenetics branch of NINDS and senior author of this study. By combining cutting-edge computer algorithms capable of mapping structural variations across the whole genome with machine learning, the research team analyzed whole-genome data from thousands of patient samples and several thousand unaffected controls. A previously unknown variant in the gene TCPN1 was found in samples from patients with LBD, a disease, that like Parkinson’s disease, is associated with abnormal deposits of the protein alpha-synuclein in the brain. This variant, in which more than 300 nucleotides are deleted from the gene, is associated with a higher risk for developing LBD. While this finding is new for LBD, TCPN1 is a known risk factor for Alzheimer’s disease, which could mean that this structural variant plays a role in the broader dementia population.

Keyword: Alzheimers; Genes & Behavior
Link ID: 28775 - Posted: 05.10.2023