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By Tina Hesman Saey WASHINGTON — Scientists have uncovered a clue about why it takes so long for Huntington’s disease to develop. And they may have a lead on how to stop the fatal brain disease. Huntington’s is caused by a mistakenly repeated bit of a gene called HTT. Until recently, researchers thought the number of repeats a person is born with doesn’t change, though repeats may expand when passed to future generations. But in some brain cells, the repeats can grow over time to hundreds of copies, geneticist Bob Handsaker reported November 2 at the annual meeting of the American Society of Human Genetics. Once the number of repeats passes a certain point, the activity of thousands of other genes in the brain cells changes drastically, leading the cells to die. These findings suggest that adding repeats to the HTT gene in vulnerable brain cells is what is driving Huntington’s disease, says Handsaker, of the Broad Institute of MIT and Harvard in Cambridge, Mass. The research also suggests that preventing the repeats from growing may stop the development of the disease. The new work gives “serious insight into the disease mechanism,” says Russell Snell, a geneticist at the University of Auckland in New Zealand who was not involved in the work. About 41,000 people in the United States have symptomatic Huntington’s disease, and another 200,000 are at risk of developing it. Inheriting just one copy of a repeat-riddled HTT gene produces symptoms. Even though individuals are born with the disease-causing gene, symptoms don’t usually appear until people are in their 30s to 50s. Those symptoms include depression, mood swings, forgetfulness, balance problems, involuntary movements and slurred speech. Eventually, a person with the disease may be paralyzed and can die from complications such as pneumonia or heart failure. © Society for Science & the Public 2000–2023.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 29008 - Posted: 11.15.2023

Jon Hamilton Diseases like Alzheimer's, Parkinson's, and Huntington's are caused by toxic clumps of proteins that spread through the brain like a forest fire. Now scientists say they've figured out how the fire starts in at least one of these diseases. They've also shown how it can be extinguished. The finding involves Huntington's disease, a rare, inherited brain disorder that cut short the life of songwriter Woody Guthrie. But the study has implications for other degenerative brain diseases, including Alzheimer's. It "opens the path" to finding the initial event that leads to diseases like Alzheimer's and Parkinson's, says Corinne Lasmézas, who studies neurodegenerative diseases at the Wertheim UF Scripps Institute in Jupiter, Florida. She was not involved in the study. People with Huntington's "begin to lose control of their body movements, they have mental impediments over time, and eventually they die," says Randal Halfmann, an author of the study and a researcher at the Stowers Institute for Medical Research in Kansas City, Mo. Like other neurodegenerative diseases, Huntington's occurs when proteins in the brain fold into an abnormal shape and begin to stick together. Then these clumps of abnormal protein begin to cause nearby proteins to misfold and clump too. "As the disease progresses you're effectively watching a sort of a forest fire," Halfmann says. "And you're trying to figure out what started it." In essence, Halfmann's team wanted to find the molecular matchstick responsible for the lethal blaze. To do that, they needed to chronicle an event that is fleeting and usually invisible. It's called nucleation, the moment when a misfolded protein begins to aggregate and proliferate. © 2023 npr

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 28828 - Posted: 06.21.2023

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

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 13: Memory and Learning
Link ID: 28796 - Posted: 05.23.2023

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

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 28210 - Posted: 02.19.2022

Diana Kwon Two pharmaceutical companies have halted clinical trials of gene-targeting therapies for Huntington’s disease (HD), following the drugs’ disappointing performance. Researchers had hoped that the treatments — known as antisense oligonucleotides (ASOs) — would be a game changer for HD, an incurable genetic condition that affects cognition, behaviour and movement. But back-to-back announcements from Roche, headquartered in Basel, Switzerland, and Wave Life Sciences, in Cambridge, Massachusetts, have dealt a crushing blow to those affected by the disease. “I was really shocked, really tearful,” says Marion, a woman in London with HD, who was part of one of the trials. “We didn’t see it coming at all. I felt really frightened and worried about my future.” Marion requested that her last name be withheld to protect her privacy. In mid-March, Roche announced that it was halting a phase III study of its ASO drug, tominersen. A week later, Wave Life Sciences said that it would discontinue the development of two of its HD ASOs that were in phase I/II clinical trials. “The Roche trial in particular left the community quite devastated,” says Cath Stanley, chief executive of the Huntington’s Disease Association, a UK advocacy group supporting people with the disease. “There has been so much positive noise around it, both from researchers and clinicians and from the drug company themselves. I think the community was really swept up by that hope.” © 2021 Springer Nature Limited

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 27811 - Posted: 05.08.2021

By Denise Grady Year after year for two decades, Nancy Wexler led medical teams into remote villages in Venezuela, where huge extended families lived in stilt houses on Lake Maracaibo and for generations, had suffered from a terrible hereditary disease that causes brain degeneration, disability and death. Neighbors shunned the sick, fearing they were contagious. “Doctors wouldn’t treat them,” Dr. Wexler said. “Priests wouldn’t touch them.” She began to think of the villagers as her family, and started a clinic to care for them. “They are so gracious, so kind, so loving,” she said. Over time, Dr. Wexler coaxed elite scientists to collaborate rather than compete to find the cause of the disorder, Huntington’s disease, and she raised millions of dollars for research. Her work led to the discovery in 1993 of the gene that causes Huntington’s, to the identification of other genes that may have moderating effects and, at long last, to experimental treatments that have begun to show promise. Now, at 74, Dr. Wexler is facing a painful and daunting task that she had long postponed. She has decided it’s time to acknowledge publicly that she has the disease she’s spent her life studying and that killed her mother, uncles and grandfather. “There is such stigma, and such ostracization,” Dr. Wexler, a professor of neuropsychology at the College of Physicians and Surgeons at Columbia University, said in a lengthy interview. “I think it’s important to destigmatize Huntington’s and make it not as scary. Of course it is scary. Having a fatal disease is scary and I don’t want to trivialize that. But if I can say, I’m not stopping my life, I’m going to work, we’re still trying to find a cure, that would help. If I can do anything to take the onus off having this thing, I want to do it.” Among her greatest concerns are the thousands of Venezuelans from the families full of the disease, whose willingness to donate blood and skin samples, and the brains of deceased relatives, made it possible to find the gene. But they live in an impoverished region, and, Dr. Wexler said, they are still outcasts. The clinic that she and her colleagues opened has been shut down by Venezuela’s government. © 2020 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 4: Development of the Brain
Link ID: 27110 - Posted: 03.10.2020

By Sharon Begley, STAT Even allowing for the fact that these were lilliputian brains, they were not behaving at all according to plan. From the first days of the tiny lab-grown organs’ development, primitive “progenitor cells” romped out of their birthplaces in the deep interior and quickly turned into neurons and glia, specialized cells that do the brain’s heavy lifting, from thinking and feeling and moving to boring old neurological housekeeping. But the cells were jumping the gun. In healthy developing human brains, progenitor cells spend a good chunk of prenatal existence simply reproducing, vastly increasing their numbers and postponing becoming other brain cells. The impatient progenitor cells, however, were in cerebral organoids—minuscule 3-D versions of the brain—created from the cells of people with Huntington’s disease in hopes of mimicking the patients’ actual brain development decades earlier. It was new evidence that, in their understanding of this devastating genetic illness, scientists know only half the story: In addition to being a neurodegenerative disease, it is also neurodevelopmental, starting in the womb. These recent findings and other research are spurring a radical rethinking of Huntington’s, with implications for the age when any potential cure is likely to be most effective. “It’s not conclusive, but there is suggestive evidence that neurodevelopment is altered in Huntington’s disease,” said neurobiologist Mahmoud Pouladi of the National University of Singapore, who led the organoid work. If so, then if scientists discover a way to repair the mutant gene or remove the aberrant molecules it makes, “the earlier you intervene the better it should be.” In contrast, today’s most-watched clinical trials in Huntington’s include only adults, often middle-aged ones, reflecting the belief that most mutation carriers can reach their 30s or beyond cerebrally unscathed. In fact, doctors and advocacy groups strongly discourage genetic testing for Huntington’s in anyone under 18, presuming there’s nothing to be gained. According to the genetic-testing guidelines from the Huntington’s Disease Society of America, “Predictive testing of minors currently has no medical benefits and the possibility for psychosocial harm and lowered self-esteem is high.” © 2019 Scientific American

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26889 - Posted: 12.11.2019

Anna Moore On a lazy Sunday morning in May last year, Isobel Lloyd was at her boyfriend’s house, having coffee with his mum. The conversation had worked around to Lloyd’s grandma – her mother’s mother – who’d died in her 50s, when Lloyd was very young. Lloyd’s only memories of her had been hospice visits where her grandma lay bedbound, unable to talk or swallow, with no control over how her body moved. Lloyd had forgotten the name of her grandma’s disease, hadn’t thought about it in years. Like most 20-year-olds, she was future-focused – a student from Yorkshire, keen on her studies, in love with her boyfriend of four years. Sitting in his family kitchen, they began reeling off degenerative diseases. Motor neurone. Multiple sclerosis. Parkinson’s. Alzheimer’s. Then finally Huntington’s disease (HD). In a flash of recognition, Lloyd knew that was the one her grandma had. “It just clicked,” she says. “I Googled it on my phone – and that’s when I read that it was genetic. My mum had a 50% risk of getting it – and if she did, I had a 50% risk, too.” She didn’t tell her boyfriend’s mother what she’d just learned, “But I felt the colour rush out of my face,” says Lloyd, an only child. “I thought, ‘No way, that can’t be true.’ I was 20 years old and no one had told me?” In fact, that’s not so unusual. Secrecy, evasion and lies are frequent features for families grappling with genetic disease. Whether it’s HD, a breast cancer gene, inheritable bowel cancer, early-onset Alzheimer’s, it’s not uncommon for younger generations to stumble upon their inheritance by noticing patterns, asking questions. By then, they’re faced not just with their frightening at-risk status, but also anger at all those years in the dark. © 2019 Guardian News & Media Limited

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26498 - Posted: 08.15.2019

By Meredith Wadman The data behind the promising trial of a drug that blocks the production of a mutant protein that causes brain damage in people with Huntington disease—an inherited and ultimately fatal neurological disorder—were published today in The New England Journal of Medicine, giving an official imprimatur to news that first electrified the community of patients with the disease 17 months ago. The results, originally announced in December 2017, were published alongside an editorial that called the trial “pathbreaking.” The new paper reports that the drug, a short stretch of synthetic DNA called HTTRx that blocks the production of the mutant protein huntingtin, is safe in humans; no serious adverse events were reported by the 46 people who participated in the trial. (Last summer, Science wrote in depth about the first participant, Michelle Dardengo.) The results also provide details behind the source of excitement about the trial: that HTTRx reduced levels of huntingtin in the cerebrospinal fluid (CSF) that bathes the spinal cord—a proxy, it is hoped, for what is happening in the brain—by amounts that had reversed Huntington-like motor and cognitive symptoms in mice. And the reductions in the mutant protein in the CSF of patients were dose-dependent: Through a range of dosing levels, the bigger the dose, the more the reduction of the mutant protein. © 2019 American Association for the Advancement of Science

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26217 - Posted: 05.07.2019

Robin McKie Matt Ellison was seven when his father was diagnosed with Huntington’s disease. The condition – which is progressive, incurable and invariably fatal – took 15 years to kill John Ellison. The impact on Matt’s life was profound. His father, who had inherited the disease from his mother, found he could no longer concentrate enough to hold down his job as an engineer at Jaguar. Later he began to lose the power of movement and, eventually, lost his ability to speak. At his local school Matt was mocked because of his father’s odd, uncoordinated gait. The taunting got so bad that Matt stopped attending. “I stayed at home and helped Mum look after Dad,” he recalls. Then in 2007, when Matt reached 18, he decided to find out whether he faced a similar fate. He was tested and told: yes, he had the Huntington’s gene. A few years later his father died, aged 55. “I had had time to prepare myself, but it still hits you hard when you are told you are positive,” says Matt. “I had wanted to be negative as much for my mum, who had gone through enough pain.” For Matt, and thousands of others who have been told they have inherited this affliction, the future would appear bleak, a prospect of inexor able physical and mental decline. The Huntington’s gene is remorseless in its impact. But recently this dark outlook has brightened. Scientists believe they are closing in on a treatment to control Huntington’s worst effects. © 2019 Guardian News & Media Limited

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 26008 - Posted: 03.05.2019

Robin McKie Science Editor Lawyers are bringing a case against a London hospital trust that could trigger major changes to the rules governing patient confidentiality. The case involves a woman who is suing doctors because they failed to tell her about her father’s fatal hereditary disease before she had her own child. The woman discovered – after giving birth – that her father carried the gene for Huntington’s disease, a degenerative, incurable brain condition. Later she found out she had inherited the gene and that her own daughter, now eight, has a 50% chance of having it. The woman – who cannot be named for legal reasons – says she would have had an abortion had she known about her father’s condition, and is suing the doctors who failed to tell her about the risks she and her child faced. It is the first case in English law to deal with a relative’s claim over issues of genetic responsibility. “This could really change the way we do medicine, because it is about the duty that doctors have to share genetic test results with relatives and whether the duty exists in law,” said Anna Middleton, head of society and ethics research at the Wellcome Genome Campus in Cambridge. Experts say that as more is discovered about the genetic components of medical conditions, including cancer and dementia, doctors will come under increasing pressure to consider not only their patients’ needs but also those of relatives who may share affected genes. The case also raises questions over how much effort clinicians need to put into tracing relatives, and whether they will be sued if their attempts do not go far enough. © 2018 Guardian News and Media Limited

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 25720 - Posted: 11.26.2018

By: Albert La Spada, M.D., Ph.D. Altering the DNA sequence of a single gene can be enough to cause a fatal illness, and a medical specialty is devoted to the diagnosis and care of patients who have what doctors have labeled “genetic diseases.” While most of these conditions are very rare (except in certain small human populations that exist in reproductive isolation1), there are thousands of genetic diseases, and at least half of pediatric patients admitted to major children’s medical centers at any given time are afflicted with one of them.2 Single gene mutations can also cause breast, ovarian, and colon cancer in adult patients. Over the last century, our understanding of genetic disease has greatly advanced through the tireless work of clinicians and researchers, as the concept of one gene giving rise to one particular disorder evolved, and the modes of inheritance for different genetic diseases were defined. In the course of this work, certain such diseases (e.g. sickle cell anemia, cystic fibrosis, Duchenne muscular dystrophy, neurofibromatosis) became well known, almost always because they were the most common and the most tragic. Included in this group is a disorder that has been the focus of intense research efforts to define its cause and now to develop an effective treatment: Huntington’s disease (HD). In this primarily neuropsychiatric disorder, most affected individuals first suffer from an inability to control their movements, and develop signs of disease in their 30s or 40s. Because these uncontrolled movements can appear rhythmic, the disease was also named Huntington’s chorea, from the Greek word for dance. The initial phase typically advances for a number of years before HD patients develop cognitive decline, which progresses until they can no longer perform the activities of daily living. At this point, patients are typically admitted to a skilled nursing facility, where they linger in decline for more years before passing away. © 2018 The Dana Foundation

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 25445 - Posted: 09.13.2018

By Meredith Wadman VANCOUVER, CANADA—The dark shadow of Huntington disease fell squarely over Michelle Dardengo’s life on the day in 1986 that her 52-year-old father was found floating in the river in Tahsis, the remote Vancouver Island mill town where she grew up. Richard Varney had left his wedding ring, watch, and wallet on the bathroom counter; ridden his bike to a bridge that spans the rocky river; and jumped. The 4.5-meter drop broke his pelvis. The town doctor happened to be fishing below and pulled Varney out as he floated downstream, saving his life. But his tailspin continued. The once funny man who read the Encyclopedia Britannica for pleasure; the good dancer who loved ABBA, the Three Tenors, and AC/DC; the affable volunteer firefighter—that man was disappearing. He was being replaced by an erratic, raging misanthrope wedded to 40-ounce bottles of Bacardi whose legs would not stay still when he reclined in his La-Z-Boy. In 1988, Varney was diagnosed with Huntington disease. That explained his transformation but offered little comfort. Huntington is a brutal brain malady caused by a mutant protein that inexorably robs victims of control of their movements and their minds. Patients are plagued by jerky, purposeless movements called chorea. They may become depressed, irritable, and impulsive. They inevitably suffer from progressive dementia. The slow decline typically begins in midlife and lasts 15 to 20 years, as the toxic protein damages and finally kills neurons. For both families and the afflicted, the descent is agonizing, not least because each child of an affected person has a 50% chance of inheriting the fatal disease. © 2018 American Association for the Advancement of Science

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 25362 - Posted: 08.22.2018

By Esther Landhuis As the sun went down on a recent Friday, the hospital clinic buzzed with activity. “Loads of patients turned up without appointments,” says Sarah Tabrizi, a neurologist at University College London. It wasn’t just the typical post-holiday rush. Many rushed in, Tabrizi suspects, after hearing news last month about a potential new therapy for Huntington’s disease, a brain disorder that cripples the body and blurs speech and thinking, sometimes not too long after a person’s 30th birthday. Like other neurodegenerative disorders such as Lou Gehrig’s, Parkinson’s and Alzheimer’s, Huntington’s has no cure. Over decades biotech companies have poured billions of dollars into developing and testing pharmaceuticals for these devastating conditions, only to unleash storms of disappointment. Yet in December a ray of something approximating hope poked through when a California company released preliminary findings from its small Huntington’s study. Results from this early-stage clinical trial have not yet been published or reported at medical meetings. But some researchers have growing confidence that the drug should work for Huntington’s and perhaps other diseases with clear genetic roots. The initial data showed enough promise to convince Roche to license the drug from California-based Ionis Pharmaceuticals, which sponsored the recent Huntington’s trial. The pharma giant paid Ionis $45 million for the right to conduct further studies and work with regulatory agencies to bring the experimental therapy to market. © 2018 Scientific American

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 24536 - Posted: 01.17.2018

Hannah Devlin Science correspondent They are diseases that threaten more than physical health: memories, personality, and the ability to move and speak are incrementally stolen. And until this year neurodegenerative diseases, from Alzheimer’s to ALS, had been entirely unstoppable. However, a breakthrough in Huntington’s disease this week suggests this bleak picture could be about to change. The landmark trial was the first to show that the genetic defect that causes Huntington’s could be corrected, raising hopes that the drug will become the first to slow the progress of the disease – or even stop it. The Huntington’s results alone would have been remarkable enough, but they come just a month after the same experimental class of drugs were revealed to help patients with a different degenerative disease, called Spinal Muscular Atrophy (SMA). Babies with the most severe form of SMA normally never develop the strength to sit up or roll over, but after four years on the drug, some of these children are starting to stand and take their first steps with a walker. The two trials have triggered a wave of optimism that drugs built on similar principles could be used to target a wide range of deadly brain disorders, possibly even Alzheimer’s and Parkinson’s. “I don’t want to overstate this too much, but this could be a turning point,” said Prof John Hardy, a neuroscientist at University College London who was awarded the Breakthrough prize for his work on Alzheimer’s. © 2017 Guardian News and Media Limited

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 24429 - Posted: 12.16.2017

Hannah Devlin Science correspondent A landmark trial for Huntington’s disease has announced positive results, suggesting that an experimental drug could become the first to slow the progression of the devastating genetic illness. The results have been hailed as “enormously significant” because it is the first time any drug has been shown to suppress the effects of the Huntington’s mutation that causes irreversible damage to the brain. Current treatments only help with symptoms, rather than slowing the disease’s progression. Prof Sarah Tabrizi, director of University College London’s Huntington’s Disease Centre who led the phase 1 trial, said the results were “beyond what I’d ever hoped ... The results of this trial are of ground-breaking importance for Huntington’s disease patients and families,” she said. The results have also caused ripples of excitement across the scientific world because the drug, which is a synthetic strand of DNA, could potentially be adapted to target other incurable brain disorders such as Alzheimer’s and Parkinson’s. The Swiss pharmaceutical giant Roche has paid a $45m licence fee to take the drug forward to clinical use. Huntington’s is an incurable degenerative disease caused by a single gene defect that is passed down through families. The first symptoms, which typically appear in middle age, include mood swings, anger and depression. Later patients develop uncontrolled jerky movements, dementia and ultimately paralysis. Some people die within a decade of diagnosis. © 2017 Guardian News and Media Limited

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 24419 - Posted: 12.11.2017

Hannah Devlin Huntington’s has blighted Peter Allen’s family for generations. He watched his mother, Stephanie, slowly die from the disease and before that his grandmother, Olive, fell victim to the same illness. At 51 years old, Peter is the first of his generation to show signs of the illness, but his sister, Sandy, and brother, Frank, know they are also carrying the gene. The onset of Huntington’s is insidious. Psychological changes typically come first – tiredness, mood swings, apathy and anger. Four years ago, Peter was formally diagnosed as symptomatic when he began suffering anxiety and panic attacks so severe he would become convinced that he couldn’t swallow. In retrospect, the depression he suffered in his thirties may have been an earlier manifestation of changes happening his brain. In person, Peter is articulate, funny and exudes affection for his wife and siblings, but there are small signs of the changes that are underway. Every now and then he pauses to search for the right word. A loss of dexterity means he can no longer write or sign his name, his balance is unsteady and, when tired, his speech becomes slurred. “You know that you’re gradually lessening,” he says. A lack of awareness about the disease and its symptoms means people sometimes assume he is drunk. “I’ve been asked to leave pubs before I’ve even had a drink,” he says. “I don’t go to those pubs any more.” Peter took redundancy from his marketing job at Network Rail in 2015 and has not returned to full-time work, although he is retraining to become a garden designer. Anti-depressant drugs have helped bring the psychological symptoms under control. In future, he will be offered other drugs to stiffen his muscles, which helps reduce involuntary movements. But no current treatments can slow the relentless progression of the disease, the loss of memory, motor control and eventually the ability to think. © 2017 Guardian News and Media Limited

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 24418 - Posted: 12.11.2017

Robin McKie Observer science editor Scientists at Cambridge University have co-opted an unusual ally in their battle to find treatments for an incurable degenerative ailment that affects thousands of people in the UK. They have taken charge of a flock of merino sheep that have been genetically modified to carry the gene for Huntington’s disease. The research, led by neuroscientist Professor Jenny Morton, aims to understand how to pinpoint early symptoms of the brain condition, which affects more than 6,700 people in the UK. The gene responsible for Huntington’s was isolated more then 30 years ago but scientists have yet to develop drugs that might halt or even slow its development in patients. The brain’s complexity has defied attempts to understand how the condition develops. “Until now, much of our effort has been based on research on mice or rats,” said Morton. “But sheep should make better research subjects. Not only do they live much longer than rodents, their brains are larger and closer in size and structure to humans.” Huntington’s disease, which affects men and women equally, is an inherited neurological condition whose symptoms manifest themselves in adulthood, usually between 35 and 55. Initially mood, personality, coordination and memory are affected but, as the disease progresses, speech, swallowing and motor function deteriorate until death occurs 10 to 25 years after symptoms first appear. There is no known cure for Huntington’s disease although there are treatments to manage symptoms. © 2017 Guardian News and Media Limited

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 23816 - Posted: 07.09.2017

Dara Mohammadi As the small motorboat chugs to a halt, three travellers, wind-beaten from the three-hour journey along the Atrato river, step on to the muddy banks of Bellavista, an otherwise inaccessible town in the heart of the heavily forested north-west of Colombia. They swing their hessian bags – stuffed with bedsheets, dried beans and cuddly toys – to their shoulders and clamber up a dusty path. Tucked inside the bag of one of the travellers, neuropsychologist Sonia Moreno, is the reason they are here: a wad of unfinished, hand-drawn charts of family trees. The people whose names are circled on the charts have Huntington’s disease, an incurable genetic brain disorder that usually starts between the ages of 35 and 45 years. It begins with personality changes that can make them aggressive, violent, uninhibited, anxious and depressed. The disease progresses slowly, robbing them first of the control of their body, which jerks and twists seemingly of its own will, and then their ability to walk, talk and think until, about 20 years after the symptoms first begin, they die. Their children, each of whom has a 50% chance of inheriting the disease, watch and wait to see if it will happen to them. It is in this way that the disease strangles families. With Moreno is Ignacio Muñoz-Sanjuan, vice president of translational biology at CHDI Foundation, a US nonprofit research organisation that aims to find ways to prevent or slow down the progression of the disease. The foundation spent $140m–$150m (£97m-£104m) on research last year, but Muñoz-Sanjuan is not here on official business. He’s here for Factor-H, an initiative he founded four years ago to help with the other end of the problem – poor families with Huntington’s struggling in Latin America. © 2016 Guardian News and Media Limited o

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 22220 - Posted: 05.16.2016

By Hanae Armitage CHICAGO, ILLINOIS—Huntingtons disease, a neurological condition caused by brain-destroying mutant proteins, starts with mood swings and twitching and ends in dementia and death. The condition, which afflicts about 30,000 Americans, has no cure. But now, a new gene-editing method that many believe will lead to a Nobel Prize has been shown to effectively halt production of the defective proteins in mice, leading to hope that a potent therapy for Huntingtons is on the distant horizon. That new method is CRISPR, which uses RNA-guided enzymes to snip out or add segments of DNA to a cell. In the first time it has been applied to Huntingtons disease, CRISPR’s results are “remarkably encouraging,” says neuroscientist Nicole Déglon of the University of Lausanne in Switzerland, who led the mouse study, results of which she and her co-researcher Nicolas Merienne shared yesterday at the Society for Neuroscience Conference in Chicago, Illinois. As neurological diseases go, Huntingtons is an ideal candidate for CRISPR therapy, because the disease is determined by a single gene, Déglon notes. A mutation in the gene, which codes for a normally helpful brain protein called huntingtin, consists of different numbers of “tandem repeats,” repeating segments of DNA that cause the protein to fold into a shape that is toxic to the brain. Déglon and her team wondered whether CRISPR could halt production of this dangerous molecule. Using a virus as a delivery vehicle, the researchers infected two separate groups of healthy adult mice with a mutant huntingtin gene, but only one group received the therapy: a CRISPR “cassette,” which includes DNA for the gene-editing enzyme Cas9 and the RNA to target the huntingtin gene. © 2015 American Association for the Advancement of Science

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Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 21538 - Posted: 10.21.2015