Links for Keyword: ALS-Lou Gehrig's Disease
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Researchers have discovered a genetic mutation associated with an inherited form of motor neuron disease in which symptoms first appear in childhood or young adulthood. The finding is slated for publication in the American Journal of Human Genetics. In studying families affected by the disease, researchers detected a mutation in the Senataxin gene. Although this gene's exact function is unknown, scientists think the normal Senataxin gene may play a role in how cells rid themselves of faulty genetic messages during RNA processing, according to Dr. Craig Bennett, University of Washington (UW) research assistant professor of pediatrics, Division of Genetics and Developmental Medicine. The mutation may make it difficult for motor neuron cells to clear out mistakes made during encoding of DNA, and thereby contribute to the degeneration of these nerve cells. The disease studied is a rare type of amyotrophic lateral sclerosis (ALS). Patients with this type of ALS have mild symptoms, a slow progression of muscle weakness, a normal life span, and relatives with the same disorder. In contrast, most ALS disorders appear in middle age or later life and cause paralysis and death within a few years. Only 10 percent of ALS disorders run in families; the rest appear sporadically. ALS claimed the life of baseball star Lou Gehrig, and is often called Lou Gehrig's disease.
By STEPHEN S. HALL AMONG many exquisitely rendered moments in Jonathan Weiner's ''His Brother's Keeper: A Story From the Edge of Medicine,'' a simple daily act of fine motor skill early on quietly explodes into a moment of heartbreaking significance, when a young carpenter named Stephen Heywood inserts a key one morning into the front door of a cottage he has been lovingly restoring in Palo Alto, Calif. A self-described slacker, a brown dwarf of a star in an otherwise brilliant constellation of familial ambition, Stephen has struggled to find his niche, professionally and perhaps emotionally, in a family of overachievers based in Newton, Mass. His mother, Peggy, is a retired psychotherapist; his father, John, is director of an engineering lab at the Massachusetts Institute of Technology; his younger brother, Ben, is trying to make it in Hollywood as a producer; and his other brother, Jamie, two years older, is not just an M.I.T.-educated mechanical engineer of uncommon vision and intuition, but a larger-than-life personality who has yet to meet a challenge he cannot overcome. The family's greatest challenge begins to announce itself that morning in December 1997, when Stephen discovers that try as he might, he is unable to turn the key in the lock with his right hand. It is an early sign that he is suffering from amyotrophic lateral sclerosis (A.L.S.), often called Lou Gehrig's disease. Copyright 2004 The New York Times Company
Bat specimens dating back more than 50 years may help scientists understand high rates of a killer disease on a Pacific island. Guam is known for incredibly high rates of a degenerative disease which has some of the hallmarks of motor neuron, Parkinson's and dementia, but cannot be firmly identified as any of them. Among the Chamorro people on the island, rates of the mysterious condition run at between 50 and 100 times the "normal" rate of motor neuron disease found in other communities. Many theories have been put forward as to the cause of the disease, but the mystery has yet to be solved. In recent years, some researchers have suggested that islanders habit of catching and eating a type of bat called a flying fox may be to blame. It is suggested that the flying foxes feed on seed containing a chemical highly toxic to human brain cells. (C) BBC
Cathy Burgess, a Nottinghamshire woman with motor neurone disease (ALS), wanted more people to know about the illness. She spoke to BBC News about the disease a few weeks before her death. "It was like someone had crept up on me and an icy hand grabbed my heart while I wasn't looking and stole my future." Cathy, who was 48, only discovered she had motor neurone disease two years ago. "I promised myself to learn a new skill every year and I did - skiing, sailing, ballroom dancing, scuba diving and sky-diving. "One of the things I always say is that my family and support network are my parachute." (C) BBC
3-dimensional pictures of ALS mutant proteins support two major theories about how the disease is caused A new study reveals for the first time how gene mutations lead to the inherited form of amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease. The study suggests that the two most prominent theories of how familial ALS (FALS) and other related diseases develop are both right in part. "No one has ever demonstrated at the molecular level how ALS mutations might lead to disease," says study author John Hart, Ph.D., director of the University of Texas Health Science Center X-ray Crystallographic Core Laboratory in San Antonio. "Using a technique commonly used in structural biology, we could see the intimate details of how toxic familial ALS proteins interact. And we found out that the proteins are interacting in a way they shouldn't be." The study was funded by the National Institute of Neurological Disorders and Stroke and appears in the June 2003 issue of Nature Structural Biology. ALS is a progressive, fatal neurological disease that usually strikes in mid-life. It causes muscle weakness, leads to paralysis, and usually ends in death within 2 to 5 years of diagnosis. Affecting as many as 20,000 Americans, ALS occurs when specific nerve cells in the brain and spinal cord that control voluntary movement gradually degenerate.
The gene could bring treatments closer Scientists may have found a genetic mutation which may help unravel why people get the devastating condition motor neurone disease (MND). While experts know that some cases of motor neurone are hereditary, they are hopeful that their finding could offer some explanation to thousands more patients. However, a new treatment or a cure for the condition is still a long way off, they concede. There are approximately 5,000 Motor Neurone Disease patients in the UK. The illness appears often in middle age and the symptoms involve a progressively spreading muscle weakness. While there is a treatment that can slow this process in some patients, there is no cure and the disease is always fatal. (C) BBC
By WILLIAM GRIMES The wrath of PETA, the animal rights group, has now been turned on KFC, the fried-chicken chain. After two years of failed negotiations aimed at forcing KFC to introduce more humane practices into the raising and slaughtering of chickens, PETA announced last week that it would start a worldwide "Kentucky Fried Cruelty" campaign, distributing posters, stickers and leaflets that feature a cartoon Colonel Sanders grinning wickedly as he slices open a live bird. PETA, or People for the Ethical Treatment of Animals, wants KFC, among other things, to kill its chickens using gas rather than slitting their throats, to increase their living space and to provide perches and shelters for the birds. "KFC has shortchanged the chickens, leaving us no choice but to turn up the heat," said Bruce Friedrich, PETA's director of vegan outreach. "McDonald's, Burger King and Wendy's responded to consumer pressure; KFC would do well to follow their lead." YUM Brands, the parent company of KFC, insisted that its animal welfare program had brought about improvements in the way its suppliers raised and killed their chickens. One claim in the PETA campaign is sure to catch the attention of anyone who has ever had close dealings with a chicken. "Chickens are inquisitive and interesting animals," the campaign's press release begins, "and are thought to be at least as intelligent as dogs or cats." Copyright 2003 The New York Times Company
Related chapters from BP7e: Chapter 1: Biological Psychology: Scope and Outlook
Related chapters from MM:Chapter 1: An Introduction to Brain and Behavior
Link ID: 3287 - Posted: 01.12.2003
People with motor neurone disease are significantly more likely to have been slim and athletic, research suggests. A form of motor neurone disease called Amyotrophic Lateral Sclerosis has been associated with many patients who were lean and athletic throughout their lives. In fact, ALS is also known as Lou Gehrig's Disease, after the great New York Yankees baseball player whose career was cut short by the disease. Scientists from Columbia University in New York investigated whether the anecdotal evidence of a link to body size could be backed up by hard data. They compared details of 279 patients with motor neurone disease with 152 patients with other neurological conditions. The odds of having motor neurone disease were 2.21 times higher in subjects who had always been slim, and 1.70 times higher among people who had played sport at university representative level. (C) BBC
ST. PAUL, MN -- Patients with motor neuron disease, including ALS, were significantly more likely to been slim and to have been varsity athletes, according to a new study conducted by Nikolaos Scarmeas and a team of epidemiologists from Columbia University. The study is published in the latest issue of Neurology, the American Academy of Neurology's scientific journal. ALS, sometimes called "Lou Gehrig's Disease" after the famous baseball player whose career was cut short by the disease, has been associated with many patients who were lean throughout their lives as well as being athletes, said Lewis P. Rowland, MD, with the Neurological Institute in New York, and a co-author of the study. The case-control study compared variables including BMI (body mass index), age at onset of the disease, sex, slimness, and participation in varsity athletics of 279 patients with motor neuron disease and 152 with other neurological diseases.
Related chapters from BP7e: Chapter 11: Motor Control and Plasticity; Chapter 13: Homeostasis: Active Regulation of the Internal Environment
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 9: Homeostasis: Active Regulation of the Internal Environment
Link ID: 2613 - Posted: 09.10.2002
Abnormal accumulation of two common lipids in motor nerve cells could play a critical role in the development of amyotrophic lateral sclerosis (ALS), according to investigators at the National Institute on Aging (NIA) in Baltimore. The finding could help scientists develop drugs and other treatments that might one day slow or arrest the disease's progression. "ALS is a terrible disease in which a fully functioning mind is trapped inside a body that is becoming progressively paralyzed. At the present time, nothing can be done for ALS, but we hope this newly established link between lipid regulation and the disease will hasten the development of new treatments," said Mark Mattson, Ph.D., lead author of the study* and chief of the NIA Laboratory of Neurosciences. Lipids are the building blocks of fats. The study is available online at the Annals of Neurology website, http://www3.interscience.wiley.com/cgi-bin/fulltext/98016376/FILE?TPL=ftx_start and will be published in the journal's September 2002 issue. Also called Lou Gehrig's disease, ALS is a progressive, fatal neurological disease affecting as many as 20,000 Americans, with 5,000 new cases occurring in the United States each year. Patients usually die within five years of diagnosis. ALS occurs when specific nerve cells in the brain and spinal cord that control voluntary movement gradually degenerate. The loss of these motor neurons causes the muscles under their control to weaken and waste away, leading to paralysis. In some instances, the disease is inherited, but in most cases the cause is unknown.
Copyright © 2001 AP Online By LAURA MECKLER, Associated Press WASHINGTON - In the first acknowledgement of a link between service in the Gulf and a specific disease, the government reported Monday that soldiers who served in the Gulf War were nearly twice as likely to develop Lou Gehrig's disease as other military personnel. The Veterans Administration said it would immediately offer disability and survivor benefits to veterans who served in the Persian Gulf during the conflict a decade ago. "The hazards of the modern day battlefield are more than bullet wounds and saber cuts," said Anthony Principi, secretary of Veterans Affairs. The results released Monday have not yet been reviewed by other scientists or published in an academic journal, but officials said they were releasing them now to prevent further delay in compensating victims of the progressive, fatal disease. Copyright © 2001 Nando Media
By SHERYL GAY STOLBERG WASHINGTON, - After years of denying any link between illness and service in the Persian Gulf war, military officials said today that veterans of the conflict were nearly twice as likely as other soldiers to suffer the fatal neurological illness known as Lou Gehrig's disease. The joint announcement by the Defense and Veterans Affairs Departments was based on the preliminary findings of a study of more than 2.5 million veterans. Officials said they would immediately offer disability and survivor benefits to affected patients and families. Forty cases have been identified so far. "The hazards of the modern-day battlefield are more than bullet wounds and saber cuts," Veterans Affairs Secretary Anthony J. Principi said in releasing the results of the study. "We have to be conscious of that and act accordingly." Copyright 2001 The New York Times Company
by Dan Ferber Normal mice can walk across a narrow beam without falling, but mice with ALS symptoms take frequent tumbles. Transplanted human neuron-like cells helped ALS mice keep their motor skills longer than untreated mice. Two types of cell transplants hold off muscle atrophy in mouse models of amyotrophic lateral sclerosis (ALS). These results offer hope that cell transplants could one day be used to treat this devastating and incurable disease, two research groups announced here this week. ALS, also known as Lou Gehrig's disease, causes spinal-cord neurons that communicate with muscles to waste away, leading within five years to muscle weakness, then paralysis and death. Despite the efforts of researchers, there's little physicians can do for ALS patients; the only FDA-approved drug, sriluzole, prolongs life just six months. © Elsevier Science Limited 2000
Related chapters from BP7e: Chapter 11: Motor Control and Plasticity; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 13: Memory, Learning, and Development
Link ID: 1056 - Posted: 11.27.2001
Eight years after identifying the first gene responsible for inherited cases of Lou Gehrig's disease, scientists have found another one. Currently there is little hope for those suffering from the neurodegenerative disease that led to the death of Baseball Hall of Famer Lou Gehrig. Scientists hope that this latest finding could help clarify how the disease destroys the central nervous system. Formally known as amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease usually strikes people in their 40s or 50s. Neurons in the brain and spinal cord that control muscles degenerate, eventually killing those affected. The cause of most ALS cases remains a mystery, but about 10% are inherited, and in 1993, scientists found that a gene called SOD1 was mutated in a fifth of these cases. Now, two teams have independently pinpointed a second culprit gene that accounts for some of the other inherited ALS cases. = Copyright © 2001 by the American Association for the Advancement of Science.
A second gene mutation that causes an inherited form of amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, has been identified by Teepu Siddique, M.D., the Northwestern University researcher who, with collaborators from Massachusetts General Hospital, discovered the first ALS gene (ALS1) in 1993. ALS is a terminal, progressive neuromuscular disease that renders the muscles of the body useless while leaving the mind unaffected. There is currently no effective treatment or cure for ALS. The newly identified gene mutation is responsible for a rare, slowly progressive, early-onset form of the disease, called juvenile inherited ALS (ALS2), discovered in highly inbred populations in North Africa and the Middle East. Siddique and colleagues discovered the gene, located on chromosome 2q33, in four Tunisian and Saudi Arabian families. They first identified the location of the gene in 1994. Siddique and an international consortium of researchers reported the discovery of the aberrant gene in the Oct. 3 issue of Nature Genetics. Their findings also clarify why clinicians previously confused ALS2 for another neurodegenerative disease called juvenile primary lateral sclerosis -- different mutations in the same gene are found in both individuals with ALS2 and those with juvenile primary lateral sclerosis, indicating that these conditions have a common genetic origin.
The AIDS virus can cause a version of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, that can be treated effectively with antiretroviral drugs, according to two studies reported in the 25 September issue of Neurology. The results bolster the case for a viral cause of ALS and show that at least some rare cases of motor neuron disease can be reversed. As ALS patients get sicker, their motor neurons degenerate, causing muscles throughout the body to atrophy. Despite decades of research, it's still not clear what kills the neurons. Researchers have long suspected a virus, perhaps one related to poliovirus or HIV, but evidence was circumstantial. To see whether HIV was associated with motor neuron disease, neurologist Antoine Moulignier of Rothschild Hospital in Paris, France, and his colleagues examined records from 1700 patients with either HIV or neurological symptoms who had been treated at the hospital between 1987 and 2000. Copyright © 2001 by the American Association for the Advancement of Science.
Molecular structure could advance understanding of human disorders
EVANSTON, Ill. - A recent breakthrough by scientists at Northwestern University could advance understanding of the biochemical causes of some nervous system disorders, including forms of amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease. A team led by Amy Rosenzweig, assistant professor of biochemistry, molecular biology and cell biology and of chemistry, in collaboration with Thomas O'Halloran, professor of chemistry, is the first to determine the molecular structure of a metallochaperone (a protein that delivers metals to enzymes that need them to function) bound to its target protein. Specifically, the researchers have shown how the copper metallochaperone CCS binds to its target, superoxide dismutase (SOD), an enzyme that, when in a mutated form, has been linked to an inherited form of ALS known as familial ALS (FALS).