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Gaucher And Parkinson’s

About one in 20,000 children is born with a form of Gaucher’s disease, a genetic condition in which the body is unable to remove a type of lipid from cells. It affects the bones and organs. It is the most common genetic illness affecting Ashkenazi Jews; one in 450 Ashkenazi infants is born with the disease. Overall, one percent of Americans are carriers of Gaucher’s disease. That means one percent of people have one copy of the flawed gene that causes the condition. If two carriers have children, each of those children has a one in four chance of getting two copies of the gene—one from each parent—and having the disease, and a one in two chance of inheriting one copy and being a carrier.

Gaucher’s disease can be spotted in advance by genetic testing. Testing to look for the genes associated with the condition is about 70 percent accurate in the general population, higher in Ashkenazi Jews. This testing can determine help whether someone with a family history is a carrier of the disease. Carriers have reduced levels of the enzyme affected by the genetic mutation, but show no symptoms. Blood tests can also detect these reduced levels and identify carriers, particularly in conjunction with genetic testing. Couples who are both at risk are advised to get tested so they have some awareness and can know what their options are. Amniocentesis can determine whether a mother who is a carrier is going to have a child with the disease.

Though carriers of Gaucher’s disease do not have symptoms of the disease itself, there is some evidence that carriers and patients alike are at increased risk of Parkinson’s disease. The cellular mechanisms work overtime to both compensate for the damaged enzyme and get rid of the accumulated lipids and to deal wit the actual broken enzyme, which accumulates in cells as well. This extra effort leads to cell death and causes neurological damage of the sort that leads to Parkinson’s disease. There are a number of genetic mutations that can result in Parkinson’s, and very few patients with Gaucher’s disease will go on to develop Parkinson’s, but experts say it noticeably raises the risk.

Migraine Predicts Parkinson’s

Researchers believe they have found a connection between a tendency to get migraines and risk of Parkinson’s disease. In particular, people who get migraine with aura—an alteration in vision that often presages a migraine—are twice as likely to develop Parkinson’s later in life as people without migraines. Migraine affects an estimated 30 million people and is the most common brain disorder in adults, so potentially millions of people are at risk for Parkinson’s disease, as well as for the cardiovascular illnesses with which migraine is also associated.

In addition, people in the study with a family history of Parkinson’s were more likely to get migraines, providing more evidence of a connection. The reason for the link, if it exists, is not entirely clear, but one possibility is that dopamine, a messenger chemical in the brain that has been implicated as a major cause of Parkinson’s, is also involved in migraines. Past research has indicated that dopamine receptors may be involved in migraines.

The dopamine issues that cause migraines, however, are imperfectly understood themselves. Their causes—called triggers—vary from person to person. Among the most common migraine triggers are onions, alcohol, secondhand smoke, and MSG. Some chemical compounds are also common triggers, such as the nitrates used in curing meat or tyramine, which naturally forms in aged foods such as wine or certain cheeses. Stress is another frequent cause of migraines. A recent study found that referring to a stressful situation as a "headache" isn’t just a metaphor; people with more stress in their lives are more prone to headaches of the literal sort. With migraines, it seems the let-down after is a bigger problem, and keeping stress levels even is important for prevention.

In fact, avoiding triggers in general is the most effective way of preventing migraines. There is a learning curve to this, since avoiding triggers requires first determining what they are. However, once a patient’s triggers have mostly been determined, avoiding them can significantly reduce migraine instances. In addition, medications and medical devices are available to prevent migraines or lessen their severity or duration. Two new electromagnetic stimulation devices, for example, seem to be useful for stopping migraines as soon as they start, if not sooner.

Helping People With Parkinson’s Lead Independent Lives

Parkinson’s disease affects almost a million Americans; famous sufferers of the neurodegenerative disease include the actor Michael J. Fox, boxer Muhammad Ali and former Attorney General Janet Reno. As many as 60,000 new cases are diagnosed each year. The condition occurs when dopamine-producing cells in the brain become damaged due to a protein called alpha-synuclein. This causes clumps of cells called Lewy bodies to form.

The most common and the clearest effect of the disease is the loss of motor control. Studies have found ways to slow this process and possible regain some degree of lost function. Weight training has been shown to help slow the loss of motor control in many patients. Tai chi also appears to have beneficial effects. However, a lot of research is focused on helping people adapt.

Now technology is helping Parkinson’s patients in one of the most important areas of day-to-day life: eating. People with Parkinson’s sometimes have trouble getting enough to eat when symptoms make it difficult for them to get food to their mouths. Tremors can move the hand as much as an inch off course, making precise motions difficult and tiring. To address this, the same mechanisms that make it possible for someone using a digital camera to get a steady shot have been adapted into a special spoon that corrects for the effects of eating with shaky hands.

A stabilization system in the handle can detect vibration in real time, and move the bowl of the spoon at the same speed but in opposite direction, compensating for the initial movement. The inventors say the spoon cancels out more than 70 percent of tremors, making it possible for people to eat despite tremors. The spoon uses computer models of normal movement to help distinguish intended from unintended motions. The bowl is detachable for washing. The electronics in the spoon handle can also be used to measure and record tremors. This information can then be synchronized with a computer program, allowing people with the condition to have a record of ow bad the tremors are, if they’re getting worse or better, and how rapidly.

How To Sleep, And Why


Sleep isn’t just downtime. It can be as important to productivity, happiness, and overall health as some of the things we do while we’re awake. For example, a recent study found that couples in which the partners get less sleep fight more. After a sleepless night, couples are less able to manage conflict and more prone to lash out at each other. Lack of sleep has long been associated with increased irritability in many contexts, but this is the first time hard data show that irritability can damage relationships.

Other studies have consistently found a link between lack of sleep and poor dietary choices. Lack of sleep raises the levels of a molecule that stimulates the appetite. In addition, people with later bedtimes tend to snack at night, and brain scans have found that sleep deprivation has a negative effect on the part of the brain involved in complex decision-making, while increasing activity in the area that responds to rewards, such as junk food. That combination makes junk food more tempting.

That’s why experts recommend that you:

  • Stick as best you can to a daily routine; get up at the same time every morning, even when you don’t have work, and go to bed at the same time every night.
  • Avoid caffeine in the afternoon. It takes caffeine about half an hour to kick in and about 5 hours to leave the body
  • Don’t wear restrictive clothing to bed.
  • Turn off all electronic devices before taking off for dreamland.
  • Get some exercise, which stabilizes your body clock, reduces your risk of sleep apnea, and perhaps more prosaically, burns off energy, helping you sleep.
  • Use your bed—and, if possible, your bedroom—only for sleeping and intimacy
  • If you can’t sleep, get up and do something, then try again later.

Stress is a common cause of brief bouts of insomnia, but if it’s a chronic problem there may be something more going on. Insomnia is a frequent symptom of clinical depression, as well as of other illnesses such as gastroesophageal reflux disease, arthritis, heart failure, Parkinson’s disease, and Alzheimer’s disease—it’s definitely something you’ll want to mention to your doctor. Certain medications, including allergy medications and corticosteroids, can have insomnia as a side effect, and your doctor can help you with that as well.

Protein In Parkinson’s Disease Discovered

The cause of Parkinson’s disease, a disorder of the nervous system that affects movement and motor control, is unclear. There is some evidence pointing to a genetic link, but plenty of people have Parkinson’s disease without any sort of family history of the condition, and the mutations known to cause the condition show up only in a small minority of patients. Some genetic markers are associated with a higher risk, but not much higher. Environmental factors, similarly, are known to increase the risk of Parkinson’s disease, but not by a lot, and not very consistently. Clumps of protein called Lewy bodies are found in the brains of patients with Parkinson’s. Lewy bodies are also found in patients with certain types of dementia—Parkinson’s does not usually cause cognitive impairment—and are considered the best bet for zeroing in on the cause of the illness.

Inside those Lewy bodies there is a protein called alpha-synuclein, which normally resists agglutination. However, alpha-synuclein is so closely linked with Parkinson’s that many doctors believed it was a factor in causing it. Now researchers in Chicago have found strong evidence that this protein overruns cells in much the same way viruses invade them.

The difference is that alpha-synuclein is already in the cell, in a part called the lysosome, where it performs important cellular functions. Problems arise when a virus breaks into the cell; Parkinson’s is a condition that scientists now believe can result when alpha-synuclein breaks out of the lysosome. Cells in which the lysosome has ruptured become inactive, in a process called apoptosis. Normally this is defensive, because lysosomal ruptures are usually caused by microbes, but when it is caused by alpha-synuclein, the effect kills an otherwise healthy cell.

Medications to treat Parkinson’s currently focus on a hormone called dopamine, one function of which is control of motion. The brain is induced to either produce more dopamine or make better use of that which it already has. However, this new research may help lead to the development of medications that target Lewy bodies directly.

Treatments for Parkinson’s

The neurodegenerative condition Parkinson’s disease affects almost a million Americans, including the actor Michael J. Fox, boxer Muhammad Ali and former Attorney General Janet Reno. As many as 60,000 new cases are diagnosed each year. The condition is caused by damage to dopamine-producing cells in the brain. Scientists don’t know what causes this damage, though a protein called RGS4 has been implicated, and other studies are looking at a possible genetic factor.

There is no cure, so doctors focus on managing symptoms, especially the loss of motor control. Now researchers are learning more and more about possible treatments for the tremors associated with Parkinson’s. Weight training has been shown to help slow the loss of motor control in many patients. Tai chi also appears to have beneficial effects.

Scientists at the University of Illinois said that weight training exercises done for an hour twice a week showed improvement in symptoms right away. This improvement lasted more than two years. Patients at all stages of the condition benefited in the study.

Another exercise regiment that helps Parkinson’s patients is the Chinese style tai chi. This style focuses on gentle, flowing movement. Researchers at Johns Hopkins University in Baltimore say it has great potential as a treatment.

There is even some indication that exercise not only benefits patients directly, but can help boost the effectiveness of medications and other forms of treatment. While both weight training and tai chi help most patients, weight training is specifically good for stiffness, while tai chi especially helps with balance.