Sanfilippo Syndrome type A, or Mucopolysaccharidosis type IIIA (MPSIIIA), is a neurodegenerative disease caused by mutations in the gene that encodes the enzyme sulfamidase. Mutations in this gene lead to deficiencies in the production of the enzyme, which is essential for the breakdown of substances known as glycosaminoglicans. If these substances are not broken down, they accumulate in the cells and cause neuroinflammation and organ dysfunction, mainly in the brain, but also in other parts of the body. Children born with this mutation are diagnosed from the age of 4 or 5.
Brain
LA JOLLA, CA--How is it possible for a human eye to figure out letters that are twisted and looped in crazy directions, like those in the little security test internet users are often given on websites?
A spinal cord injury changes the functional state and structure of the spinal cord and the brain. For example, the patients' ability to walk or move their hands can become restricted. How quickly such degenerative changes develop, however, has remained a mystery until now. The assumption was that it took years for patients with a spinal cord injury to also display anatomical changes in the spinal cord and brain above the injury site.
OAK BROOK, Ill. – Cerebral aneurysms of all sizes—even small ones below seven millimeters—are 12 times more likely to rupture if they are growing in size, according to a new study published online in the journal Radiology.
A cerebral aneurysm is a balloon-like bulge in a weakened blood vessel in the brain. If an aneurysm ruptures, blood is leaked into or around the brain, which can cause brain damage or death.
Teenagers are famously self-conscious, acutely aware and concerned about what their peers think of them. A new study reveals that this self-consciousness is linked with specific physiological and brain responses that seem to emerge and peak in adolescence.
"Our study identifies adolescence as a unique period of the lifespan in which self-conscious emotion, physiological reactivity, and activity in specific brain areas converge and peak in response to being evaluated by others," says psychological scientist and lead researcher Leah Somerville of Harvard University.
SAN FRANCISCO, July 1, 2013 -- Arguing with your spouse about where to go on vacation or how to handle the kids? As you age, you may find yourself handling these disagreements more often by changing the subject, according to a new San Francisco State University study.
STANFORD, Calif. — Long-term hearing loss from loud explosions, such as blasts from roadside bombs, may not be as irreversible as previously thought, according to a new study by researchers at the Stanford University School of Medicine.
Using a mouse model, the study found that loud blasts actually cause hair-cell and nerve-cell damage, rather than structural damage, to the cochlea, which is the auditory portion of the inner ear. This could be good news for the millions of soldiers and civilians who, after surviving these often devastating bombs, suffer long-term hearing damage.
A key brain structure that regulates emotions works differently in preschoolers with depression compared with their healthy peers, according to new research at Washington University School of Medicine in St. Louis.
The differences, measured using functional magnetic resonance imaging (fMRI), provide the earliest evidence yet of changes in brain function in young children with depression. The researchers say the findings could lead to ways to identify and treat depressed children earlier in the course of the illness, potentially preventing problems later in life.
EUGENE, Ore. -- An eight-week intervention involving 141 preschoolers in a Head Start program and their parents produced significant improvements in the children's behavior and brain functions supporting attention and reduced levels of parental stress that, in turn, improved the families' quality of life.
The findings -- from the first phase of a long-term research project by University of Oregon neuroscientists that will monitor the families over time -- appear this week online in advance of regular publication in the Proceedings of the National Academy of Sciences.
The ability to maintain mental representations of ourselves and the world — the fundamental building block of human cognition — arises from the firing of highly evolved neuronal circuits, a process that is weakened in schizophrenia. In a new study, researchers at Yale University School of Medicine pinpoint key molecular actions of proteins that allow the creation of mental representations necessary for higher cognition that are genetically altered in schizophrenia. The study was released July 1 in the Proceedings of the National Academy of Sciences.
TEMPE, Ariz -- Knowing virtually everything about how the body's cells make transitions from one state to another – for instance, precisely how particular cells develop into multi-cellular organisms – would be a major jump forward in understanding the basics of what drives biological processes.
Such a leap could open doors to far-reaching advances in medical science, bioengineering and related areas.
Identification of a protein that appears to play an important role in the immune system's removal of amyloid beta (A-beta) protein from the brain could lead to a new treatment strategy for Alzheimer's disease. The report from researchers at Massachusetts General Hospital (MGH) has been published online in Nature Communications.
Epilepsy, irregular heartbeats and other conditions caused by malfunctions in the body's nerve cells, also known as neurons, can be difficult to treat. The problem is that one medicine may help some patients but not others. Doctors' ability to predict which drugs will work with individual patients may be influenced by recent University of Missouri research that found seemingly identical neurons can behave the same even though they are built differently under the surface.
Reacting to terrorist groups: Injustice leads to anger, power to fear
Researchers found that dopamine levels in a part of the brain called the striatum were lower in people who smoke more cannabis and those who began taking the drug at a younger age.
They suggest this finding could explain why some cannabis users appear to lack motivation to work or pursue their normal interests.
The study, by scientists at Imperial College London, UCL and King's College London, was funded by the Medical Research Council and published in the journal Biological Psychiatry.