Neurology
First Clinical Trial of Gene Therapy for Muscular Dystrophy Lends Insight Into the Disease
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A clinical trial designed to replace the genetic defect causing the most common form of muscular dystrophy has uncovered an unexpected aspect of the disease. The trial, based on therapy designed by scientists at the University of North Carolina at Chapel Hill School of Medicine, showed that some patients mount an immune response to the dystrophin protein even before they have received the gene therapy.
The puzzling results, which came from trials at Columbus Children’s Hospital in Ohio, suggest that the immune systems of a number of patients—once thought to be completely devoid of the dystrophin protein—are actually primed by the prior existence of tiny amounts of this important component of muscle.
Published this week in the New England Journal of Medicine, the study demonstrates how such careful and critical observation in early clinical trials of new therapies can yield new insights into the causes of even the “simplest” single gene disorders.
Magnetic pulses can sway the hand you use, briefly
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Whether your left or right hand reaches for the phone, elevator button or cup of coffee is typically decided unconsciously. Now, a new study suggests that magnetic pulses sent into your brain could alter that choice.
The finding is preliminary, but it brings to mind past efforts to “correct” the handedness of lefty children. In Germany, for example, such “conversions” were standard practice until the 1970s, according to Dr. Stefan Kloppel of the University of Freiburg.
Kloppel, who has studied how the brain makes these decisions, was not involved in the current study and noted that such conversion is no longer recommended.
White Americans living longer with muscular dystrophy than African-Americans
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A new study shows that white men and boys are living longer with muscular dystrophy due to technological advances in recent years, but that the lives of African-American men and boys with muscular dystrophy have not been extended at the same rate. The research will be published in the September 14, 2010, issue of Neurology®, the medical journal of the American Academy of Neurology.
Muscular dystrophy is a group of inherited muscle diseases that often lead to early death due to respiratory or heart failure.
“More research is needed to determine the causes of this difference between whites and African-Americans with muscular dystrophy so it can be addressed,” said study author Aileen Kenneson, PhD, who conducted the study while with the Centers for Disease Control and Prevention. “Possible contributing factors could be differences in the types of muscular dystrophy, environmental or genetic factors, other health conditions such as high blood pressure, individual social and economic factors or access to and use of treatment options.”
Scientists make leap forward in early detection for Alzheimer’s and cancer
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Scientists at the UK’s National Physical Laboratory have developed a new strategy for quicker and more precise detection of biomarkers – proteins which indicate disease. The work could pave the way for new tools to detect early stages of Alzheimer’s and cancer at the molecular level.
All diseases have proteins specifically linked to them called biomarkers. Identifying these in body fluid such as blood can be a powerful tool in identifying diseases in their early stages. This would help doctors increase the success rate of treatment through early intervention and help drug companies develop more effective drugs for these diseases.
The search for new diagnostic and prognostic biomarkers to underpin targeted medicines is of growing priority. However the potential of biomarkers is currently hampered by technical difficulties in detecting them. They are often present at very low levels, in amongst many other different proteins. Reducing a sample down to a concentration where they could be identified is difficult and time-consuming.
Memory problems more common in men?
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A new study shows that mild cognitive impairment (MCI) may affect more men than women. The research is published in the September 7, 2010, print issue of Neurology®, the medical journal of the American Academy of Neurology.
Mild cognitive impairment is a condition in which people have problems with memory or thinking beyond that explained by the normal rate of aging. The study found that MCI was 1.5 times higher in men compared to women. MCI often leads to Alzheimer’s disease.
“This is the first study conducted among community-dwelling persons to find a higher prevalence of MCI in men,” said study author Ronald Petersen, MD, PhD, with the Mayo Clinic in Rochester, Minn. “If these results are confirmed in other studies, it may suggest that factors related to gender play a role in the disease. For example, men may experience cognitive decline earlier in life but more gradually, whereas women may transition from normal memory directly to dementia at a later age but more quickly.”
Spinal fluid can help diagnose Alzheimer’s
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Measuring certain proteins in spinal fluid can accurately diagnose Alzheimer’s and predict which patients with memory problems will develop the fatal brain-wasting disease, Belgian researchers said on Monday.
And they may also help identify early signs of the disease in healthy people, the team reported in the Archives of Neurology.
“The unexpected presence of the Alzheimer’s disease signature in more than one-third of cognitively normal subjects suggests that Alzheimer’s disease pathology is active and detectable earlier than has heretofore been envisioned,” Geert De Meyer of Ghent University in Belgium and colleagues wrote.
Mental health a growing concern after Gulf spill
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Gulf Coast native Kindra Arnesen is so anxious about the effects of the Gulf of Mexico oil spill she is packing up her family and leaving town.
“Stress? Dude my clothes are falling off me (because of weight loss). The level of stress here is tremendous. My husband has aged 10 years in two months,” Arnesen said on Friday as she loaded possessions into a van outside her trailer home in Venice.
Fears are growing of an increase in stress-related illness and mental health problems from the BP spill. Anecdotal evidence abounds but mental health officials say they lack data about the scale and scope of suffering.
Brain scan study confirms role of Alzheimer’s genes
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A study of brain scans has confirmed the role of several genes linked with Alzheimer’s disease, and turned up two others that are worth exploring, U.S. researchers said on Monday.
A team at Massachusetts General Hospital in Boston used magnetic resonance imaging or MRI scans to study changes in brain structures—such as the size of the hippocampus and amygdala—in 700 healthy volunteers and Alzheimer’s patients.
They used computer programs to sort through the genetic sequences of the 700 volunteers to see which gene mutations are most linked with these changes.
Botox may quiet chronic cough
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Botox could help some people with nagging chronic coughs that haven’t responded to standard treatment, according to a new report on four patients.
Botox, or botulinum toxin type A, is perhaps best known as a wrinkle-filler, but it has medical uses including treating spastic muscles in patients with cerebral palsy and drying up excessive sweating.
The new findings suggest that Botox might also help quiet coughs, although it is not FDA-approved for this use. And the study’s authors caution that the toxin should not be seen as a “panacea.”
Protein Regulates Enzyme Linked to Alzheimer’s Disease
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Researchers at Tufts University School of Medicine have zeroed in on a protein that may play a role in the progression of Alzheimer’s disease. The team found that increasing levels of the protein (called GGA3) prevented the accumulation of an enzyme linked to Alzheimer’s. The strategy may lead to new treatments for the neurodegenerative disease. The findings were published online May 18 in The Journal of Biological Chemistry.
People with Alzheimer’s disease typically have higher levels of an enzyme called BACE1 in their brains. BACE1 produces a toxin that researchers have pinpointed as a cause of Alzheimer’s, and now, researchers have found a way to prevent BACE1 from accumulating in the brain.
“We have identified the protein that takes this enzyme to the cell’s garbage disposal for removal. Increasing levels of the protein allows more of the enzyme to be eliminated, possibly preventing the high levels seen in people with Alzheimer’s disease,” said senior author Giuseppina Tesco, MD, PhD, assistant professor in the department of neuroscience at Tufts University School of Medicine (TUSM).
High-Fat Ketogenic Diet Effectively Treats Persistent Childhood Seizures
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The high-fat ketogenic diet can dramatically reduce or completely eliminate debilitating seizures in most children with infantile spasms, whose seizures persist despite medication, according to a Johns Hopkins Children’s Center study published online April 30 in the journal Epilepsia.
Infantile spasms, also called West syndrome, is a stubborn form of epilepsy that often does not get better with antiseizure drugs. Because poorly controlled infantile spasms may cause brain damage, the Hopkins team’s findings suggest the diet should be started at the earliest sign that medications aren’t working.
“Stopping or reducing the number of seizures can go a long way toward preserving neurological function, and the ketogenic diet should be our immediate next line of defense in children with persistent infantile spasms who don’t improve with medication,” says senior investigator Eric Kossoff, M.D., a pediatric neurologist and director of the ketogenic diet program at Hopkins Children’s.
Can a Mother’s Voice Spur Recovery From a Coma?
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Karen Schroeder’s voice, recorded on a CD, reminded her son, Ryan, of his 4-H project when he was 10 and decided to raise pigs. “You bid on three beautiful squealing black and white piglets at the auction,” she said softly. “We took them home in the trunk of our Lincoln Town Car, because we didn’t have a truck.”
Recordings from Ryan’s mother, father or sister were played through headphones for him four times a day. They were part of a new clinical trial investigating whether repeated stimulation with familiar voices can help repair a coma victim’s injured brain networks and spur his recovery.
In January 2009, Ryan, a 21-year-old college student from Huntley, Ill., was in a coma after he had been flung from his snowmobile into a tree during an ice storm. He had a traumatic brain injury; the fibers of his brain had been twisted and stretched from the impact.
Personalized Genetic Pain Treatment May Not Be Far Away
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In the not too distant future, it may be possible to discern an individual’s genetic predisposition to chronic pain conditions and treat them proactively to prevent lifetime afflictions, according to research presented today at the American Pain Society’s (http://www.ampainsoc.org) annual scientific meeting.
In his keynote address to some 2,000 pain clinicians attending the APS conference, noted neuro- genetic researcher Clifford Woolf, MD, PhD, professor of neurology and neurobiology, Harvard Medical School and Children’s Hospital Boston, said that advances in genetic research will help identify individuals genetically at risk for developing pain and foster personalized pain medicine.
“We know there is a large genetic component for pain,” Woolf told the APS audience,” and this eventually will be the key that allows clinicians to learn the answers to basic questions, such as: ‘Why does one individual feel more pain than another?’, ‘Why do some transition to chronic pain and others do not?’, and ‘Why does one patient respond to one analgesic and not another patient?’”
Prevent Alzheimer’s? No evidence you can: US panel
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Fish oil, exercise and doing puzzles may all be good for the brain but there is no strong evidence that any of these can prevent Alzheimer’s disease, an expert panel concluded on Wednesday.
Nor can any other supplements, drugs or social interaction, the independent panel meeting at the National Institutes of Health outside Washington concluded.
The group of experts looked at the dozens of studies that have suggested ways to prevent Alzheimer’s - a devastating and incurable breakdown of the brain - and found none were strong enough to constitute proof.
Researchers Develop Technique to Visualize ‘Your Brain on Drugs’
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Researchers at the U.S. Department of Energy’s Brookhaven National Laboratory have developed an imaging protocol that allows them to visualize the activity of the brain’s reward circuitry in both normal individuals and those addicted to drugs. The technique could lead to better insight into why people take recreational drugs as well as help determine which treatment strategies might be most effective.
Drug addiction is a complex process that involves numerous biological and environmental factors, but a central element is how the drugs affect the activity of dopamine, the chemical that regulates pleasure and reward in the brain.
To get a real-time sense of dopamine activity, Joanna Fowler and her colleague Gene-Jack Wang at Brookhaven, along with Nora Volkow, Director of the National Institute on Drug Abuse, combined positron emission tomography (PET), a medical imaging technology useful for identifying brain diseases, with special radioactive tracers that bind to dopamine receptors.
