By ANAHAD O'CONNOR When Ellen Goldstein of Brooklyn gave birth last November to her only child, Owen, medical tests offered no clues that five months later he would be crippled by a deadly and irreversible genetic disease. Tests shortly before Owen was born revealed no abnormalities, and a physical evaluation right after his birth showed he was in perfect health. So when Owen, once a lively and playful baby, began showing signs of low muscle tone and lost the ability to move his left arm only two months into his life, doctors were mystified. Copyright 2003 The New York Times Company

Related chapters from BP6e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 4441 - Posted: 10.29.2003

La Jolla, CA. -A team of scientists at The Scripps Research Institute (TSRI) has identified more than 50 previously unknown proteins and associates several of them with rare human muscle and nerve degeneration diseases. The team is publishing their findings this week in the journal Science. Led by TSRI Professors Larry Gerace and John R. Yates III, the team used a technique called subtractive proteomics to identify 62 new proteins in the inner nuclear membrane of the human cell. The team demonstrated that 23 of these proteins are linked with strong probability to 14 rare muscle-wasting diseases such as congenital muscular dystrophy, Limb-Girdle muscular dystrophy, and spinal muscular atrophy, and several forms of the neurodegenerative Charcot-Marie-Tooth disease. Knowing the proteins that may cause or contribute to these diseases is a first step in the long process of looking for ways to detect, prevent, or treat them.

Related chapters from BP6e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 4212 - Posted: 09.05.2003

Scientists have found strong evidence that botox injections can help children with cerebral palsy. Botox is more commonly used by cosmetic surgeons to smooth out wrinkles. The botulinum toxin can be deadly, paralysing muscles needed for breathing, but only very small doses are given in medical or cosmetic treatments. US researchers have shown children who received the treatment demonstrated a significant improvement in their symptoms. In the UK, experts have long called for the treatment using the botulinum toxin to be universally available. They welcomed the new findings, and said they provided even more support for their call. It is estimated one in 400 people in the UK have cerebral palsy, where a part of the brain, usually the part that controls the muscles and movement, is affected. (C) BBC

Related chapters from BP6e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 3657 - Posted: 04.05.2003

Researchers have proven that gene therapy can reverse the pathological features of muscular dystrophy in an animal model. Before, gene therapy had only been able to prevent further muscle-wasting in mice. "We expect to build on these results in the continuing search for a way to treat a horrible disease. Our results indicate that gene therapy could be used not only to halt or prevent this disease, but also to restore normal muscle function in older patients," says Dr. Jeffrey S. Chamberlain, professor of neurology at the University of Washington School of Medicine in Seattle. Chamberlain is the senior author of the paper describing the results, which will be published in the Proceedings of the National Academy of Sciences online Early Edition the week of Sept. 16 to 20. Duchenne muscular dystrophy is an X-linked genetic disorder that strikes one of every 3,500 newborn boys. The genetic disorder means the body does not produce the dystrophin protein, which is necessary for the structural support of muscle. Without this protein, muscles weaken to the point where the victim cannot survive.

Related chapters from BP6e: 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: 2658 - Posted: 09.17.2002

Some of the secrets behind the development of one of the most common forms of muscular dystrophy have been unlocked by scientists. Facioscapulohumeral muscular dystrophy (FSHD) mainly affects the face, shoulders and arms, but can progress to the lower limbs as well. The muscles deteriorate in these areas, weakening them and making movement difficult. It is the third most common form of the condition, but scientists still do not fully understand its genetic roots. Scientists had previously located a section on one of the cell chromosomes which appeared to be different in many sufferers. (C) BBC

Related chapters from BP6e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 2449 - Posted: 08.09.2002

British doctors believe they may have found a way of helping patients with conditions which seriously damage their nervous system. Doctors at St George's Hospital Medical School in South London have identified a gene which they believe plays a key role in certain neuro-degenerative disorders. These include patients with hereditary spastic paraplegia (HSP), which can cause people to lose the use of their legs and suffer from muscle spasms. There is currently no cure for this disorder. However, the London doctors believe their discovery could help in the development of future treatments. Dr Andrew Crosby and colleagues examined the genetic make-up of a particular form of HSP called Troyer syndrome. (C) BBC

Related chapters from BP6e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 2389 - Posted: 07.27.2002

Research on a tiny worm is yielding clues about dystonia, a disabling neurological disease of humans. University of California, Davis, researchers have found a gene in the nematode worm Caenorhabditis elegans that matches a gene altered in one form of dystonia. By studying the worm gene, they hope to find out more about how the human dystonia gene works. People with dystonia have sudden muscle contractions that force the body into abnormal and painful postures. It is the second most common neurological movement disorder, after Parkinson's Disease, affecting about half a million people in the U.S. and Canada. Scientists think that defects in parts of the brain that control movement cause the disease, but the exact causes are not known. Some milder types of dystonia can be treated with botulinum toxin injections, but there is no cure. Lesilee Rose, an assistant professor of molecular and cell biology at UC Davis, discovered the gene, called OOC-5, while looking for genes that control cell division in Caenorhabditis embryos.

Related chapters from BP6e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 2127 - Posted: 05.24.2002

By C. CLAIBORNE RAY Q. What goes wrong in progressive supranuclear palsy, the disease that led to the death of the comedian Dudley Moore? A. Progressive supranuclear palsy, or P.S.P., which affects about 20,000 Americans, is of unknown cause. It destroys cells in many areas of the brain, leading to poor coordination, stiffness, weakness of certain muscle groups and slowed thought, explained Dr. Lawrence I. Golbe, professor of neurology at Robert Wood Johnson Medical School in New Brunswick, N.J. P.S.P. typically begins with loss of balance. Nearly all sufferers eventually develop the characteristic difficulty in moving the eyes up and down, the sign that often arouses a doctor's suspicion of the correct diagnosis. Copyright 2002 The New York Times Company

Related chapters from BP6e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 1817 - Posted: 04.07.2002

Playing catch looks easy, but there's more to it than meets the eye. A ball-catching experiment in space has revealed that human brains have a built-in model of gravity. [NASA] Playing catch is easy. Kids and even their parents can do it. Keep your eyes on the ball and -- if you don't think too hard -- your hand will grab it in mid-air. It's simple, really. Or is it? In fact, playing catch is more complicated than it appears. Just before the ball arrives, your hand twists slightly. The muscles tense, so your hand isn't knocked away by the force of the blow. The timing is surprisingly exact: the muscles tighten exactly one-tenth of a second before the ball's impact.

Related chapters from BP6e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 1729 - Posted: 03.21.2002

Little did Delaine Inman realize when she was teaching classes to help patients deal with a chronic disease that she was preparing herself to deal with a rare brain disorder. A nurse for more than 30 years, Delaine's career was cut short because of the devastating condition. Delaine is one in 10,000 people who suffers from Benign Essential Blepharospasm (BEB) which causes forceful closure of the eyes and severe light sensitivity. Copyright Columbia Daily Herald. All rights reserved.

Related chapters from BP6e: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 1616 - Posted: 03.02.2002