Hydrocephalus Linked to Cell Flaws in Brain Development

Hydrocephalus Linked to Cell Flaws in Brain Development - For decades, the causes of a serious neurological condition have remained murky. However, University of Iowa researchers have now linked hydrocephalus to a flaw in certain cells crucial to brain development.

Studying mice, they found a cell signaling defect that interrupts the functioning of immature cells necessary for normal brain development. According to ScienceDaily, they were able to treat the defect with a drug, making the hydrocephalus less severe.

Hydrocephalus is marked by excessive accumulation of brain. The "water" on the brain is actually cerebrospinal fluid. Accumulation causes an abnormal widening of the ventricles and abnormal pressure on the brain, says the National Institute of Neurological Disorders and Stroke.

As many as 3 of every 1,000 babies have one of several types of hydrocephalus. Researchers have previously leaned toward inherited genetic abnormalities or development disorders associated with neural tube defects, such as spina bifida, as possible causes.

If the excessive fluid isn't removed from the brain's ventricles, they expand. This can cause serious brain damage or even death. While the disorder is one of the most frequent types of brain abnormalities in newborns, treatment for 50 years has remained brain surgery to remove excess fluid. Complications and repeat surgeries aren't uncommon.

The Iowa researchers identified a new mechanism underpinning the development of neonatal hydrocephalus. They studied a group of immature mouse cells known as neural precursor cells (NPCs). These cells have an important role in the development of most kinds of brain cells.

The team sought to reduce the size of mice ventricles, since such a reduction in humans has produced better patient results. In a subgroup of NPCs important in the development of normal ventricles, they discovered an imbalance in the orderly process of immature cells flourishing, then dying off. This caused a cell signaling flaw and eventual hydrocephalus in their mouse model.

After treating the mice with lithium, the scientists noted a return to the normal cell proliferation and dying process. A reduction in hydrocephalus in the mice followed.

They hope that their identification of cell signaling defects and successful drug therapy will lead to non-invasive treatments for hydrocephalus and other neurological disorders. Their results also suggest that successful treatment will require individualized therapies based on the specific type of hydrocephalus a patient has.

Prior to diagnosis and surgery in his 30s to install a Denver shunt, my husband cannot recall a time when he didn't have symptoms the Mayo Clinic notes as typical of hydrocephalus: a large head, sleepiness, vision problems, short-term memory loss, and poor coordination. Life since surgery has been a struggle of measuring medication levels and worrying about possible shunt malfunction. Some symptoms remain. The development of a non-invasive treatment to correct cellular flaws that cause the signaling malfunction leading to hydrocephalus could someday spare many youngsters a similar ordeal. ( yahoo.com )

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Teen with ‘Sleeping Beauty Syndrome’ wakes up after two months

Teen with ‘Sleeping Beauty Syndrome’ wakes up after two months - A British teen suffering from a rare neurological disorder that induces long periods of sleep recently awoke after sleeping for two months.

"I've missed nine exams and my birthday in November," 15-year-old Stacey Comerford tells the Sun. "It's easier now people know what it is. It's easier to explain to them. Before, people didn't believe me. That was the hardest thing."

Comerford suffers from Kleine Levin Syndrome (KLS), also known as Sleeping Beauty Syndrome, a condition affecting only about 1,000 people around the world.

The National Institute of Neurological Disorders and Stroke (NINDS) says Kleine Levin Syndrome affects primarily adolescent males (70 percent) and can often result in an individual sleeping for up to 20 hours at a time. While there is no treatment or cure for the condition, many individuals living with the condition simply outgrow it as they age, usually over the course of 8 to 12 years.

The NINDS describes the symptoms as, "Episode onset is often abrupt, and may be associated with flu-like symptoms. Excessive food intake, irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive may be observed during episodes."

"There's never any warning. I've even found her fast asleep on the kitchen floor," Comerford's mother, Bernie Richards, tells the Sun. "When she's in an episode, she might get up to go to the toilet or get a drink but she's not awake. I call it sleep mode."

Richards says doctors initially waved off her daughter's symptoms as a result of "moody" behavior.

"I was even investigated by the local education authority because Stacey's school thought I was deliberately keeping her out of school," Richards said. "They've stopped now we've got a diagnosis."

In February, ABC News profiled 21-year-old Eric Haller, who is reduced to a childlike state when his KLS kicks in. Despite experiencing about 8 to 10 episodes per year, Haller still maintains an impressive 3.5 grade point average in college.

"When I go through it, it's complete hell for me," Haller told ABC. "It doesn't feel real and it's hard to understand what people are saying. It's so frustrating, because I want to understand." ( The Sideshow )

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Stem Cell Shots Reverse Aging in Mice

Stem Cell Shots Reverse Aging in Mice - Injecting younger cells into aging bodies could help people live longer -- and stronger -- at least according to new research performed on mice.

Scientists said the research, published today in the journal Nature Communications, offered provocative new clues about the potential to treat aging and ailing cells, but it doesn't mean they've uncovered a new fountain of youth.

Researchers at the University of Pittsburgh Medical Center genetically altered mice to make them age faster, making them old and weak in a span of 17 days. The scientists then injected the mice with stem cell-like cells taken from the muscle of young, healthy mice.

The result was they reversed the aging process. The rapidly aging mice lived up to three times longer, dying after 66 days, rather than 28 days. The cell injection also appeared to make the animals healthier, improving their muscle strength and brain blood flow.

In recent years, scientists have agreed that aging in both animals and humans begins when stem cells lose their ability to rejuvenate the body's tissues. While aging is universal, some researchers believe it may also be reversible.

Dr. Laura Niedernhofer, one of the study's authors, said even though the injection of young cells didn't necessarily rebuild the bodies of the mice, it did seem to improve their body health.

"The young stem cells seem to secrete something that is quite beneficial," Niedernhofer said. "Just what that is, we're not entirely sure."

Discovering what that something is will be crucial in determining if the technique can be used to extend the lives and cure the ills of normally aging mice and, eventually, people. Scientists are already studying how to treat humans with their own muscle cells.

"The beauty of them is we can take them out of muscle and expand them so we have a useful therapeutic population of cells," Niedernhofer said. "If all of us could be treated with our own cells, we could eliminate problems with rejection and immunity."

But laboratory success with mice is a far cry from success with humans.

"One must be very cautious in extending findings in mouse progeroid models to normal human aging," said Dr. Amy Wagers, associate professor of stem cell and regenerative biology at Harvard University. "These models are very different from physiological aging, and so it remains an open question whether such phenomenon may be relevant to natural aging symptoms as well."

The mice in the study had a condition of rapid aging called progeria, meaning they did not age normally, even by mouse standards. Normal mice live for about 800 days. Though the mice in the study lived nearly three times as long as they would have, they lived for only 66 days.

Dr. Curt Freed, a professor and head of clinical pharmacology at the University of Colorado at Denver, said he was unimpressed by the brief extension of life for the rapidly aging mice.

"Because the transplants have added only 30 days to these animals' short lives, the results are interesting but are hardly a turnaround in this devastating disease model. The transplants are not curing the disease," Freed said. "I cannot imagine that this strategy will be useful for modifying the aging process in humans."

Studying how to alter aging in humans is of significant interest in the face of an aging population and the costs of age-related health care. The current study doesn't provide a cure for aging, but Niedernhofer said it gave scientists some valuable clues they could explore in future research.

"It's not going to be the fountain of youth, but it's teaching us a lot of biology that will help us conceptualize how to stay healthy and functional," Niedernhofer said. ( abcnews.go.com )

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The Boy Who Looks Like He's 80

The Boy Who Looks Like He's 80 - Twelve-year-old Seth Cook loves playing with his Xbox and his dog, Bullit. But based on his appearance, it seems more appropriate for him to spend his days reminiscing with retirees at the senior center.

Seth suffers from progeria, a rare, fatal genetic condition characterized by accelerated aging in children.

Seth looks 80 years old. He has no hair, his arteries have hardened, and he suffers from arthritis. He's only 3 feet tall and weighs 25 pounds.

Seth was 18 months old when he was diagnosed with progeria. He is one of 14 known sufferers of the disease in the United States and 42 worldwide, according to the Progeria Research Foundation.

"First it was -- you know -- denial," said Seth's father, Kyle Cook, 34.

"We thought: 'Oh my gosh, why him? Why us?'" said Seth's mother, Patti Cook, 33.

There is no known cause for progeria. In 2003, Leslie Gordon, medical director of the Progeria Research Foundation whose son also suffers from the disease, made headlines when she and a team of researchers discovered the gene responsible for the condition.

A cure or treatment, however, is still years away. Most victims die from a stroke or heart attack when they are teenagers.

"He [Seth] knows that his life is not going to be as long as everybody else's life," said Eileen Porch, Seth's teacher. "Being 13 years old is a very big wish and dream for him. He wants to be a teenager."

Seth takes an aspirin and blood thinner every day. His mother said that he was not really in pain, but that he felt uncomfortable at times. She said warm baths helped.

"Seth and I have always talked about heaven, and we've made sure that he knows what a wonderful place that is and that there will be people there waiting for him," Patti Cook said.

Seth dreams of building a house in heaven with rooms for his parents, his friends and his dog.

"It's got lots of rooms," Seth said. "It's going to be really neat." ( abcnews.co.com )

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Progeria Patients May Get Hope With New Research

Progeria Patients May Get Hope With New Research - When Zoey Penny was only 4 weeks old, her parents noticed that the skin on her belly was hard to the touch.

What they thought was a rash began to spread to her thighs and back. Months passed without an answer, as doctors and specialists ran batteries of tests on her little body. In March 2010, she was finally diagnosed with Hutchinson–Gilford Progeria Syndrome, an extremely rare and fatal genetic disorder which causes children to age eight to 10 times the normal rate.

The word progeria comes from the Greek word meaning "prematurely old."

"Zoey is 20 months old and only weighs 14 pounds," said her grandfather, John Marozzi, of Boonton Township, N.J. "She takes a human growth hormone shot every day to keep her body and bones strong. She's lost most of her hair. We worry about osteoporosis."

"But she's one happy and feisty child," Marozzi continued. "She's tough as nails and full of personality."

Zoey is only one of 78 children around the world known to have Progeria disease. Out of every 4-to-8 million births worldwide, one child will be diagnosed with the condition.

Progeria patients appear healthy at birth, but soon after, parents and doctors begin to see signs of the condition. Children with the disease are well below the average height and weight for their age. Their head is disproportionately large for the face, they have a beaked nose, hair loss, a hardening of the skin and stiff joints.

The disease is caused by a protein called progerin which accumulates in cells much faster than the average rate. But a new study, published in Science Translational Medicine, may give experts clues toward a cure for Progeria patients. Researchers found that a drug known as rapamycin slowed and even stopped the disease progression within the cells.

While the drug has only been tested in Petri dishes, scientists are excited about rapamycin's potential to treat the condition.

"Part of the problem with aging starts when debris is accumulating in the cells and it's not getting removed, and this particular drug is able to enhance the removal process," said Dr. Dimitri Krainc, lead author of the study. "It would be too optimistic to say this could completely cure Progeria patients, but we're hoping that this drug could make these kids live longer with fewer complications."

Right now, the average lifespan of a Progeria patient is 13 years old.

"Lifespan can really range from 5 or 6 years to 22 years old," said Dr. Ted Brown, a pediatrician who has spent 30 years researching Progeria. "In a typical course, by the time a patient gets to be 9 or 10, there is a hardening of the arteries, and they die of heart disease—heart attack and stroke most typically."

The drug is already approved by the Food and Drug Administration as an antibiotic to fight rejection in organ transplant recipients. Because it is already used for certain conditions, Krainc said this may allow for physicians to jumpstart clinical trials to test as a treatment in Progeria patients.

"Parents and patients have reason to be hopeful and excited," said Krainc. "It's a devastating illness, and these effects are pretty dramatic. We really hope that this will help translate into clinical treatment."

Krainc said the Progeria Research Foundation is "doing everything possible" to create a clinical trial with the drug to use in Progeria patients as soon as possible.

"We're looking for something that can slow this down," said Marozzi, who has helped raised nearly $600,000 for the Progeria Research Foundation. "I go to bed thinking, 'tomorrow may be the day,' so we take every little success and just hope that something big happens." ( abcnews.go.com )

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