there are few medical diagnoses more life changing than Parkinson’s disease. This neurodegenerative disorder is detected in some 70,000 people in the U.S. each year; Michael J. Fox and Muhammad Ali are best known for having Parkinson’s disease.

As a neurologist, I find it particularly tragic that most of these patients are referred late and do not find out they have Parkinson’s until they are already suffering from the severe tremors, walking difficulties, loss of smell and other physical manifestations of the disease.

Parkinson’s occurs when dopamine-producing cells, which control aspects of movement, diminish in the brain. we know that the disease starts working its damage long before physical symptoms show up. Parkinson’s can take as long as 12 years or more to develop, and the first mild symptoms are often mistaken as part of the normal aging process.

Because there are no simple tests to detect Parkinson’s in its early stages, it can take up to two to three years to accurately diagnose the disease. By the time someone has their first physical sign (tremor, rigidity or shuffling gait), 50 percent to 70 percent of the brain cells that produce dopamine, which controls movement, have already died.

Unfortunately, there is little that we physicians can offer patients at that point other than damage control. if we could intervene earlier on, we might be able to stave off or delay the progression of disease through neuroprotection.

In Pasadena, we have the first-FDA approved radiopharmaceutical imaging agent that can help physicians evaluate patients with suspected parkinsonian syndromes (PS) and related diseases. It is called DaTscan. Despite the unavailability of a simple blood test, tools like DaTscan can offer evidence that may help lessen diagnostic uncertainty and confusion for early-stage Parkinson’s patients and their families.

When DaTscan is combined with a single photon emission computed tomography (SPECT) brain scanner, it produces visual evidence of the amount of dopamine transporter cells, allowing physicians to determine whether occasional tremors are the result of Parkinson’s or some other cause.

DaTscan has been in available in Europe for more than 10 years; the FDA approved the imaging agent for use in the U.S. in January 2011; I scanned the first patient in Pasadena with it on Sept. 6. I believe that DaTscan will revolutionize both neuroimaging and the treatment of Parkinson’s as more and more hospitals and physicians learn about this method.

DaTscan can also detect Parkinson’s Disease by detecting early risk factors (red flags) alone or in combination, that may appear more than a decade before physical symptoms, such as , decreased or lost sense of smell or certain sleep disorders, but these uses are not yet FDA approved.

Just think how much we could slow down this difficult disease and improve lives of patients and their caregivers if we are able to act before the symptoms of Parkinson’s become debilitating and ensure that treatment recommendations are appropriate. I am certain that early detection is the future for Parkinson’s disease.

Dr. Jerome Lisk is a physician at Southern California Movement Disorder Specialists, 65 N. Madison Ave. Suite 410, Pasadena. 626-792-6683. socalmds.com

Imagine that for years you’ve lived with a body that is in constant, uncontrollable, motion: your hands tremble, your head bobs, you walk in short, shuffling steps, and muscles all over your body spasm so strongly it’s painful. Everyday activities, like going to the bathroom, are incredibly difficult and time consuming. you may look at others who walk, talk, and go to the bathroom with an ease that is impossible for you to imagine and think, that’s “them,” not me.

This description is close to what life is like for many of the estimated 7 to 10 million people worldwide who have Parkinson’s disease. but a recent study may offer hope that a change for the better could very well arrive in their near future. Neurologix, inc., a biotech company based in Fort Lee, new Jersey, successfully used cutting edge gene therapy to improve tremors, rigidity and other motor control problems in a group of Parkinson’s disease patients, and with minimal side effects. If the therapy makes it to the market, it will be the first of its kind to do so.

For the uninitiated, gene therapy is a procedure in which a group of cells within the body are upgraded with one or more new genes to modify their behavior. the targeted cells are literally reprogrammed to exhibit new behaviors and abilities. A modified virus, called a vector, is used to safely infiltrate the targeted cells and inject them with the new genes. the viruses are mutated in a way to prevent their replicating out of control or causing any harm to the patient.

In the treatment being tested by Neurologix, gene therapy is used to modify neurons within the substantia nigra, an area in the back of the brain responsible for motor control. the gene therapy is aimed at increasing the expression of the GAD gene within the targeted neurons. GAD is used within neurons to make GABA, an inhibitory neurotransmitter which is decreased in the Parkinsonian substantia nigra, resulting in overactive neuron firing. In theory, with increased GAD production, GABA production will also increase, putting a “break” on the overactive neurons in Parkinson’s patients.

Injecting a virus into a specific part of the brain is no small feat. to inject the GAD gene, the experimental half of the patients (22) had, under local anesthesia, holes drilled into their skulls into which catheters were inserted. they then went to a recovery room where the GAD gene was injected into the catheter. the remaining control patients (23) underwent sham “surgeries” in which researchers imitated the sounds of the procedure and pretended to drill a hole in the skull and insert a catheter. Six months following surgery, the motor skills of both patient groups were assessed. the placebo group showed an improvement of 11 percent. the group that received GAD improved their motor scores by 23 percent with all but two showing improvement.

The current study was the second trial that Neurologix has subjected their GAD gene therapy to. Phase 1 took place in 2007 and included 22 patients. the study showed similar improvements but did not include a control group. Now that the therapy has passed phase 2 Neurologix is trying to raise the $30 to $40 million it will cost to conduct a phase 3 trial which requires 1,000 to 3,000 test subjects. after phase 3 is completed it is then up to the FDA to decide whether or not the therapy is safe enough to be sold.

The millions of people across the world with Parkinson’s disease and their families will be watching closely.

If it does make it to market, Neurologix’s GAD gene will be a significant advancement in the treatment of Parkinson’s disease. at present the best treatment for Parkinson’s disease is levodopa. you might recall levodopa—also called L-dopa—bringing comatose patients to life in the movie “Awakenings” based on the book by Oliver Sacks. Like the GAD gene therapy, giving patients levodopa does not help prevent or reverse the actual disease but improves quality of life by alleviating symptoms. unfortunately, as we saw in “Awakenings,” levodopa must be taken continually and its effectiveness typically wears off over time.

The Promise of Gene Therapy

To give cells back that which they have lost—as in returning Parkinsonian substantia nigra neurons to normal levels of dopamine or GABA production—is the ultimate hope in gene therapy. you permanently correct the cell itself rather than continually feeding it what it lacks. Making gene therapy ever more attractive is our increasing ability to identify the abnormal genes associated with inherited disease like Alzheimer’s disease, manic-depression, intestinal cancer, heart disease, diabetes, and many others.

But the road for gene therapy has been a rocky one. A four-year old girl with a severe combined immunodeficiency (SCID)—known to most as “bubble boy disease” from the famous story of David Vetter who was forced to live in a sterile bubble—became the first person to receive gene therapy in 1990. she got better, but whether or not it was due to the therapy or something else has since been a matter of debate. much effort since then has been aimed at developing safe and effective gene therapies, but the fact is no gene therapy has yet been approved by the FDA.

Gene therapy is further complicated by the fact that diseases are, well, complicated. the advances in genetics that so enticingly point us to potential targets for gene therapy also reveal that many common disorders such as arthritis, diabetes, Alzheimer’s disease, and heart disease are brought on by the combined effects of multiple genes.

But a string of successes in the past few years clearly shows that gene therapy is marching forward:  in 2008, vision was restored to patients with blindness brought on by a defective gene; in 2009, 8 of 10 patients were cured of a form of bubble boy disease; in 2010, a man was cured of a kind of blood disease called beta-thalassaemia. each of these success stories were the result of targeting single genes. the wait may be longer for gene therapies to tackle the more complicated, multi-gene diseases, but its evident that some diseases are amenable to a single gene approach. I think we can expect exciting results in the near future. Research is currently underway to develop gene therapies for Huntington’s disease, blood disorders, various forms of cancer, Sickle cell anemia, cystic fibrosis and deafness.

To be clear, both the GAD gene and levodopa treat the symptoms, not the underlying causes of Parkinson’s disease. Until we know exactly why the neurons of the substantia nigra become impaired we won’t be able to develop a cure. For now we’ll have to be okay with that. And if Neurologix one day soon delivers a gene that improves quality of life for millions of the world’s people with Parkinson’s disease, I think they’ll be okay with that too.

[image credits: wearingoff.org, new York Presbyterian/Weill Cornell Medical College via the Dana Foundation]

“This is a great step forward toward a more comprehensive understanding of how the disease works, and how it can be diagnosed and treated,” explains neuroscientist and EPFL President Patrick Aebischer, lead author of the study.

PD is a common neurodegenerative disease that greatly reduces quality of life and costs the United States around 23 billion dollars a year. until now, researchers have encountered difficulty in reproducing PD pathology in animals because of an incomplete understanding of the disease.

Recently, a mutation of the gene coding for LRRK2, a large enzyme in the brain, has emerged as the most prevalent genetic cause of PD (genetics are implicated in about 10 percent of all PD cases). When the enzyme is mutated, it becomes hyperactive, causing the death of vulnerable neurons and leading to a reduction in levels of the brain neurotransmistter dopamine. this decrease in dopamine eventually triggers the symptoms characteristic of Parkinson’s, such as tremors, instability, impaired movement, and later stage dementia.

A vector is introduced into the healthy brain cell and transmits the mutated gene. Credit: EPFL

Now, with funding from the Michael J. Fox Foundation for Parkinson’s Research, Aebischer and his team in the Neurodegenerative Studies Laboratory at EPFL, have successfully introduced mutant LRRK2 enzyme into one hemisphere of a rat brain, resulting in the same PD manifestations that occur in humans in one side of the rodent’s body. To do this, the researchers spent two years producing and optimizing a viral vector to deliver mutated, LRRK2 coding DNA into the rat brain. LRRK2 is a large and complicated enzyme and designing a vector capable of transporting its extremely long genetic code was no small feat.

The new animal model developed by EPFL is sure to benefit future Parkinson’s research. the fact that LRRK2 is an enzyme—a catalyzing protein involved in chemical reactions—makes it drug accessible and therefore of specific interest to researchers looking for neuroprotective strategies, or pharmaceutical treatments that halt or slow disease progression by protecting vulnerable neurons. Armed with the LRRK2 model, new pharmaceuticals that inhibit the hyper-activity of the enzyme could one day prevent the destructive chain of events that leads to neurodegeneration and devastation in many with PD.

HOUSTON, Jan. 5 (UPI) — a leukemia drug could prevent destruction of brain cells in Parkinson’s disease, which could lead to ways to slow its progression, U.S. researchers say.

Scientists at the University of Texas Health Science Center discovered a mechanism in Parkinson’s that prevents a protein called parkin from keeping the brain clear of other proteins that can accumulate and kill off cells, The Houston Chronicle reported Tuesday.

Researchers found an enzyme linked to chronic myeloid leukemia blocks parkin from working, and when a leukemia drug was used to block the enzyme it prevented destruction of those healthy cells.

Scientists acknowledge the research is preliminary and the drug used in the experiment with mice doesn’t work well in the human brain, but similar drugs in development might better penetrate the brain and target the specific enzyme at fault more precisely, they say.

About a half-million people suffer from the tremors and stiffness of Parkinson’s, caused by damage to the dopamine-producing cells in the brain.

“The (current) treatments are mostly to improve symptoms,” Syed Imam, UT adjunct assistant professor of medicine, said. “They do not address how to slow down the disease. Our studies were targeted at whether we could actually slow the progression.”

Pheochromocytoma is an important explanation for secondary Hypertension. we now have adnenal gland located at upper portion of each kidney. It’s divided into adrenal cortex and adrenal medulla. Pheochromocytoma is a tumor of Adrenal Medulla. Normal function of adrenal medulla is to provide epinephrine or adrenaline. which is answerable for controlling blood stress and to help cope with nerve-racking situations. So majority of symptoms of pheochromocytoma are resulting from extra secretion of adrenaline from adrenal medulla. Most patients of pheochromocytoma have recurrent episodes of headache, sweating and a sense of high anxiety. the next signs are listed from the commonest to the least common Complications (extreme) sweating Episodes (generalized) coronary heart palpitations (tachycardia and palpitations) Anxiousness nervousness (feelings of impending demise) tremors Pain within the lower chest or higher stomach Nausea (with or with out nausea) Weight loss Warmth intolerance

these signs might come by situations which causes strain over tumor like physical exercise, exercise, defecation, anesthesia, or change in physi que position.

who ought to be examined for Pheochromocytoma those that have uncontrolled hypertension those that have age between forty and 60 those who are already taking four antihypertensive medication but blood stress is not controllable. those who have episodes of above symptoms

Reason for pheochromocytoma is unknown, however some forms of this tumor runs in families like, a-Multiple endocrine neoplasia, sort II (MEN-II). In addition to a pheochromocytoma, individuals with MEN-II even have thyroid cancer. Different forms of MEN-II include pheochromocytoma with thyroid cancer and hyperparathyroidism (MEN-IIA), and pheochromocytoma with thyroid cancer and tumors of nerves within the eyes lips, mouth and digestive tract (MEN-IIB). b-Neurofibromatosis 1 (NF1). Pheochromocytomas can occur in a small proportion of people with NF1, a syndrome that features a number of tumors in the pores and skin (neurofibromas), pigmented pores and skin spots, tumors of the optic nerve of the attention, and bone diseases. c-Von Hippel-Lindau (VHL) disease. Individuals with this rare multi system dysfunction are at high danger of pheochromocytoma mind eye and kidney tumors.

Most pheochromocytomas are benign tumors and so they do not unfold to different components of body nonetheless some kinds do present metastasis (unfold) to different parts of body like lungs, bones and brains. normally only one gland is involved however this tumor will be current in both adrenal glands.

Investigations: Blood and Urine checks: we perform blood and urine exams to diagnose pheochromocytoma. 24 hr urine collection is examined for epinephrine, norepinephrine and dopamine. this take a look at is known as VMA. Idea is just to examine stage of epinephrine and its metabolites in urine. if these are detected in urine in excess quantity, then tumor is diagnosed.

Belly scan. now you will have diagnosed tumor by blood and urine tests, after that to seek out out location of tumor, do Ultrasound, CT scan of abdomen.

Problems: if high blood pressure remained uncontrolled it may result in complications of heart failure, infarction, cerebrovascular accident, imaginative and prescient injury and kidney failure.

Treatment: First remedy is to regulate high blood pressure with medicine like Alpha Blockers and Beta Blockers. when epinephrine is secreted by this tumor it acts on alpha and beta receptors current on heart and blood vessels, result is vasoconstriction and improve coronary heart rate. now if if we take medicine like alpha blocker and beta blocker, epinephrine might be blocked by these drugs to act on these receptors so result is vasodilation and gradual coronary heart rate. Common Alpha blockers are Prazosin (Minipress), Terazosin (Hytrin) Phenoxybenzamine( Dibenzaline). Widespread Beta Blockers are Atenolol(Tenormin), Carvedilol(Carveda), Metoprolol(Mepressor), Inderal.

Remedy of choice for this tumor is Surgery. after removal of this gland by surgery, blood stress becomes regular with a day. There are two types of surgeries. Basic and Laproscopic surgery. Nevertheless Surgery isn’t an possibility for those tumors which show metastasis to different elements of body. For that we use chemotherapy and radiations.

every time you could have hypertension with any symptom, do not ignore it, chances are you’ll be the affected person of Pheochromocytoma. at all times contact your Doctor.

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