Parkinson's Disease: A Genetic Analysis

Parkinson disease (PD) is one of the most common neurologic disorders. and it affects approximately 1% of individuals older than 60 years old. Parkinson’s disease is a condition that progresses slowly by treatment. In addition, loss of pigmented dopaminergic neurons of the substantianigra pars compacta and the presence of Lewy bodies and Lewyneurites are the two major neuropathologic findings in Parkinson disease (Hauser, 2016).

The path physiology of Parkinson’s disease is the pathogenesis if Parkinson disease is unknown. Epidemiologic data suggest genetic, viral, and environmental toxins as possible

At the same time, Parkinson’s is still quite sporadic in nature. Should there be a familial relation however, mutations in specific genes have been conclusively shown to cause Parkinson’s disease. Familial cases of Parkinson disease can be caused by mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene, or by alterations in genes that have not been identified. In most cases, people with these mutations will develop Parkinson’s

Parkinson disease is a neurodegenerative disorder affecting primarily the patient’s motor function. The disease is characterized by rigidity, tremor at rest, bradykinesis, and decreased postural reflexes (Bollinger, Cowan, LaFontaine, Ronai, 2012). Parkinson disease was largely documented and brought to the forefront by James Parkinson, who published an article discussing the condition in 1817 (Lees, 2007). While great strides in understanding and treatment have been made, Parkinson disease is still considered an idiopathic disease (Lau & Breteler, 2006). Many areas of the disease process have been noted, but no one has been marked as the primary causative process, as well as little has been solidified in diagnostic procedures

The average percent for a man in his sixties to develop Parkinson disease is a 2% chance while a women in her sixties has a 1.3% chance. In the year 2000 15,000 deaths were reported to have had Parkinson a rate of 5.5 people per 100,000 people in America. In the United States alone the chance of someone developing Parkinson is between 1.5 – 2.0 percent. On average a person spends about $2500 on medication and nationally $5.6 billion approximately is spent annually. Smokers have a 40% lower risk of development in Parkinson. The ingredient inside cigarettes is currently unknown, but there is an ideal guess that it maybe the Monoamine oxidase B or MAO B that, an enzyme created by the MAOB gene, is found in humans that lower the chance of development. The

When a teenager at our clinic was diagnosed with Juvenile Parkinsonism (JP) our challenge as physical therapists started with performing different evaluation tools to produce an assertive assessment. Because JP is so rare most of the times it gets confused with other conditions. Juvenile Parkinsonism is associated with high - Parkinson’s risk genetic mutations or environmental toxin exposure (Pan-Mantojo & Reichman, 2014). 65% of people under 20 years of age with JP is due to a genetic mutation (Thomsen & Rodnitzky, 2010). Having the Leucine - rich repeat kinase 2 (LRRK-2) and/or parkin9 genes increases the possibility of developing JP. It is important the entire team treating patients with juvenile PD onset get embedded in the condition in order to provide the best care possible.

The PARK7 gene provides instructions for making the DJ-1 protein. This protein is found in many tissues and organs, including the brain. Studies indicate that the DJ-1 protein has several functions, however it is not fully understood how generic changes cause Parkinson’s disease or even understand it’s risks. One of the protein's functions may be to protect cells, particularly brain cells, from oxidative stress. Oxidative stress reflects an imbalance between the generation reactive oxygen species and a biological system’s ability to readily detoxify the reactive species. It occurs when unstable molecules called free radicals accumulate at levels that can damage or kill cells. Many radicals are unstable and highly reactive. They can neither donate or accept an electron. Additionally the DJ-1 protein may assist in delivering selected proteins to proteasomes, which are structures within cells that break down unneeded

Firstly, genetics is believed to play a role although it only affects a small number of families. Scientists have identified some gene abnormalities and mutations that are linked to Parkinson’s Disease such as the mutation in alpha synuclein gene. The triplication of this gene on a copy of chromosome 4 causes the overproduction of either normal or abnormal alpha synuclein protein, which is toxic to brain cells (Lesage, “Genetics and Parkinson’s Disease: What have we learned?”). Secondly, more and more studies have shown the relation between environmental toxins and Parkinson’s Disease. Exposure to toxins such as certain metals (manganese), pesticides and chemicals (MPTP, an illicit drug) selectively damages neurological cells, causing the disease (“Parkinson’s Disease: Hope through research”). Thirdly, mitochondrial oxidation stress may also contribute to the illness (“What causes Parkinson’s Disease”). By ‘stealing’ electrons from nearby molecules, the unstable free radicals cause damage to cells such as the neurons, and thus interrupt the communication with our

Parkinson’s disease is a chronic brain disorder that limits mobility in patients that are diagnosed with it. Information about the disease was first published in Western medicine in 175 AD, although evidence of it it has been seen since earlier ancient times. Since then, much has been learned about the disease. In the 1960s, the differences in chemicals in the brains of Parkinson’s disease patients were first identified. Researchers now believe that Parkinson’s is caused by the gradual breakdown of nerve cells in the brain. The degeneration of these cells leads to a lack of dopamine in the brain, which makes nerve functioning more difficult as it is harder for the brain to coordinate muscle movement. The gradual breakdown of neurons causes the symptoms of Parkinson’s to worsen as the patient gets older. Since the 1960s, research on Parkinson’s has been ongoing but not yet conclusive.

One of the major results that the researchers found were that the VPS35 mutations associated with Parkinson’s

The Parkinson 's disease (PD) is the second most common neurodegenerative disorder after Alzheimer 's disease (Lang and Lozano, 1998). It affects about 1% of the population with different ethnic backgrounds throughout the world over the age of 65 (Tanner and Goldman, 1996). The aetiology of Parkinson 's disease is not well understood; however, genetic and environmental factors are thought to play a role (Checkoway and Nelson, 1999). Pathologically, PD is characterised by mitochondrial DNA dysfunction leading to degeneration of dopaminergic neurons in the substantia nigra pars compacta (Fig.1) and subsequent reduction in striatal dopamine levels (Longmore, 2014).

Parkinson’s disease is a progressive late-onset disorder that affects the nervous system. The part of the brain that is most affected is the substantia nigra which controls balance and movement. Consequently, the most noted symptoms of this disease are tremors, inability to move, stiffness, or reduced coordination and balance. Scientists have identified many genes that contribute to Parkinson’s but also suggest that the nature of the disease comes from both genetic and environmental factors. The genes we know so far are: LRRK2, PARK2, PARK7, PINK1 (PARK6), SNCA, GBA, and UCHL1; the last two are attributed to developing family history of Parkinson’s and not developing the disease in that individual. In the PARK2, PARK6, and PARK7 genes, in order

At present there have been great strides made in the research and therapy of Parkinson’s disease. Some of the therapies which will soon be available include the transplantation of healthy dopamine-producing tissues into the brain and the use of medications to prevent dopamine producing brain cells from becoming damaged or lost. It is the understanding of what is Parkinson’s Disease that can help those who have been diagnosed with

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder, characterized by symptoms of motor abnormalities such as bradykinesia, resting tremor, and muscle rigidity, along with non-motor symptoms including depression, autonomic dysfunction, and dementia1-3. These motor symptoms are largely due to specific loss of dopaminergic neurons in the substantia nigra pars compacta, located in the basal ganglia of the brain, although other areas of the brain have also shown degeneration such as the cerebral cortex and brainstem4, 5. In addition, the accumulation of cytoplasmic plaques known as Lewy bodies are also a hallmark of PD. PD can be classified into sporadic as well as familial cases, with sporadic PD representing

Parkinson’s disease has been known about since ancient times. In AD 175, the physician Galen described it as “shaking palsy” in Western medical literature. It wasn’t until 1817 that a London doctor, named James Parkinson, wrote a detailed medical essay on this disease. This essay established Parkinson’s disease as a recognized medical condition. He based the essay off of six cases he had observed previously and hoped that it would encourage others to study the disease. No such research was performed until finally, sixty years after Parkinson’s essay was published, a French neurologist named Jean Charcot studied the disease and was the first to truly recognize the importance of Parkinson’s work. As a result, he named the disease after him. Much has been learned about the disease since then; however, much of it still remains a mystery. Researchers have learned that the symptoms for this disease are progressive, degenerative, and tend to occur more in older individuals. It has been found that a dopamine deficiency of the brain is the root of the matter; although, why this initially occurs is less clear. The Parkinson’s Disease Foundation was created in 1957 to assist those who are suffering and promote and fund further research. Since the 1960’s research has only progressed more and more rapidly. Even though there still is no known cure, the symptoms can now be effectively controlled and reduced in severity. Moreover, many other foundations assisting the cause have been