Batten’s Disease

People cease to exist each and every day. With every passing minute, over one hundred people breathe their last and depart from this world. Death comes by many means: deprivation of food, war, epidemic, disease, and old age. Diseases are accountable for death in many people. A prominent family of ailments is neurological disorders. Batten disease is one subset of neurological disorders. Battens assaults its victims in the childhood years and eventually takes their lives as well. Batten disease is relatively anomalous; thus, abounding measures of people do not know the explanation or history of the disorder.

Batten disease is classified as a fatal autosomal recessive condition. It is the most prevalent form of the category of disorders recognized as Neuronal Ceroid Lipofuscins, which are routinely referred to as NCLs. The overall ramifications of the disease are neurodegenerative issues with the patients (Batten Disease, 1 of 6). In 1903, the first reported case was unearthed when Dr. Fredrick Batten researched and eventually discovered the disorder. The disease was entitled Batten disease in honor of the scientist (Batten Disease, 2 of 6). There are multiple types of Batten disease; moreover, infantile Battens is one specimen.

The most habitual time for this form to commence is amid the ages of six months and two years. Expeditious progression is a major attribute of this infantile Battens. Growth problems like Microcephaly, or an underdeveloped brain and a small head, are also customary. Sharp, concise muscle contractions -Myoclonic jerks- are conventional in infantile Battens. Although some sufferers of infantile Batten disease endure the ailment until approximately six years of age, a considerable amount of patients only live to the age of five (Batten Disease, 2 of 6).

Alternative types of Batten disease, such as late infantile Batten disease, manifest later in the victim’s life. Late infantile Batten disease generally originates two to four years subsequent to birth. Ataxia affects the majority of late infantile Batten disease sufferers. This means that the patients undergo a deprivation of muscle coordination. Seizures with no response to anti-convulsion drugs are also perceptible. Late infantile Batten disease has an accelerated development, and the victims most commonly have a lifespan of eight to twelve years (Batten Disease, 2 of 6).

While late infantile Battens acts upon youthful children, juvenile Batten disease assaults children at an older age. When the patient matures to be between the ages of five and ten, juvenile Batten disease initiates its onset. Certain symptoms are associated with this form of Battens. Vision loss is very rife; moreover, blindness is the ultimate conclusion later in the development. Seizures, although less common, are apparent as well. An additional symptom of juvenile Batten disease that plagues children is motor disruptions transpiring late in the disease.

This type of Battens usually shortens the lifespan of the sufferer into the advanced teenage years and early twenties. This form is the most frequent type of Batten disease (What Is Batten Disease? , 1 of 3). Along with juvenile Batten disease, adult Batten disease is another type of this disorder. Adult Battens develops in patients that are under the age of 40 while the others all occur in the early stages of life. It is also the rarest type of the disease. Gradual progression is a dominant characteristic. Adult Battens has more moderate symptoms than the other forms.

A major example of this is that blindness does not affect patients with adult Battens. A shortened lifespan is apparent as well; however, the stolen years differ from case to case. This author was astonished that all forms of Batten disease shorten the lifespan of all sufferer to some degree (Batten Disease, 2 of 6). Understanding Batten disease requires one to examine the causes of the ailment such as inheritance. This disease is inherited when both parents carry a certain mutated gene. There are eight known genes that cause the disorder.

If a mother and father carry any of these genes known to cause Battens, each offspring has a chance of developing Battens. According to Google online (2012), If both parents are carriers of this trait, every offspring can have a one in four chance of suffering from the disease, a two in four chance of not suffering but acting as a carrier of the trait, and a one in four chance of neither suffering from the disease nor acting as a carrier. (3 of 6) If a child becomes a carrier, it is possible that his offspring will develop Batten disease (Batten disease, 3 of 6).

Batten disease often affects multiple children in the family. This occurs because the parents often produce more children before they realize that they are carriers; moreover, the parents do not realize the risks that are present (First Controlled Clinical Trial for Juvenile Batten Disease to Start, 2 of 8). While it is known that Batten disease develops from inherited genes, the exact cause has to do with how these genes affect the body. Although Batten disease has been acknowledged for over one hundred years, the exact genesis of Battens has eluded scientists.

There are many theories, but little is understood. Nevertheless, the primary biochemical faults of Batten disease have been revealed to scientists recently: CLN1, CLN2, and CLN3. Each gene is responsible for a different type of Battens (Batten Disease Information Page, 2 of 4). Although the exact cause of Batten disease is not entirely comprehended, scientists have ascertained that the cause is malfunctioning brain cells in the patient. One theory suggests a disorder in the patient’s neurons. This results in an idiosyncrasy in the disposal and accumulation of insoluble lipid-protein complexes.

Others believe that an enzyme deficiency and an abnormal production of lipid peroxides occur as well (What Is Batten Disease? , 2 of 3). All these anomalies and complications of the brain cells lead to Lipofuscin in the neurons. Lipofuscin, a yellow fluorescent pigment, accumulates in the brain cells of Batten disease patients. The presence of this pigment in the cerebrum marks the commencement of deterioration in neurons. The advancement rate fluctuates with each type; furthermore, the juvenile form has a destructive and swift development (What Is Batten Disease?, 2 of 3).

This Lipofuscin aggregation results from a gene alteration. The buildup inhibits the brain from disposing and recycling proteins (Batten Disease, 3 of 6). Lipofuscin is one material that causes malfunction in cells; however, the mutated genes CLN1, CLN2, and CLN3 are similarly alleged causes of Batten disease. CLN1, or palmitoyl-protein thioesterase, is a mutated gene responsible for infantile Batten disease. This protein is inadequately active; the deficiency of this CLN1 protein is believed to be the cause of the ailment.

The origin of the late infantile form is thought to be a CLN2 enzyme. This enzyme, an acid protease which hydrolyzes proteins, is undersupplied and causes the disease (Batten Disease Information Page, 2 of 3). In 1995 gene CLN3 was discovered. Abnormalities of this gene were linked to the cause of juvenile Batten disease (Brandt 2 of 4). There are many tests used in the diagnosis of Batten disease patients. The condition is most frequently discovered multiple years subsequent to birth. The time of diagnosis fluctuates for every patient. Blood tests, urinalyses, and tissue sampling are commonplace.

Other tests consist of an electrical examination of the eyes, a brain scan, and genetic testing (Batten Disease, 3 of 6, 4 of 6). Although there are various methods to diagnose Battens, the vision of the patient is a chief aspect in the diagnosis of Batten disease. Vision loss is an early diagnosis of the condition. Battens is commonly recognized during an eye exam. The patient is frequently referred to a neurologist (Batten Disease, 3 of 6). This specialist performs various laboratory tests and analyzes the patient’s medical history in order to pronounce the patient with Batten disease.

The afflicted cannot be diagnosed with Batten disease by this trait alone because the same symptom of vision loss is apparent in other diseases as well (Brandt 2 of 3). There is a plethora of symptoms affiliated with the early stages of Batten disease. Vision complications are the most prevailing consequences of Batten disease. Patients also experience seizures, personality and behavior alterations, and clumsiness or stumbling. Poor circulation is another prevalent ramification of the disease (What Is Batten Disease? , 1 of 3).

A repetition of speech known as Echolalia, a curved spine caused by Scoliosis, a loss of muscle coordination, and a decrease in body fat are other early results of Batten disease. An array of additional symptoms issues teeth gnawing, constipation, and Hyperventilation (Batten Disease, 2 of 6). While there are many repurcussions of Batten disease that arise in the early onset of the disease, there is similarly a wide assortment of symptoms that transpire later in the development of the disease. Mental impairment is one of the first maladies that comes with the advancement of the ailment.

Batten disease victims also experience seizures and blindness. A loss of motor skills and eventual disablement are regular as well. The patients also lose their communication skills (What is Batten Disease? , 1 of 3). Muscle spasms caused by Myoclonus, a loss of muscle control known as Ataxia, and a movement disorder recognized as Choreoathetosis all come to light in the later stages of Battens. Dementia eventually affects the patient and leads to the death of the sufferer (Batten Disease, 3 of 6). There are multiple risk factors that concern certain types of people.

Age is a major risk factor; moreover, the childhood years pose as the most common time for the disease to develop (What Is Batten Disease? , 2 of 3). Batten disease is more common in Northern European countries; nevertheless, it is still relatively infrequent (What Is Batten Disease? , 2 of 3). According to Google online (2011), “Batten disease and other forms of NCL are relatively rare, occurring in an estimated four of every 100,000 births in the United States. These disorders appear to be more common in Poland, Sweden, and other parts of Northern Europe and Newfoundland, Canada. ” (2 of 3).

Scientists are working to discover an efficient treatment for Batten disease. At this time, there is no known cure for Batten disease; however, medications are prescribed to attenuate the symptoms (Ballinger 1 of 3). Seizures are reduced with the help of anti-convulsion medication. In order that patients remain functional, many participate in occupational and physical therapy. Batten disease can be prevented with genetic counseling (Batten Disease, 4 of 6). Although there is no present cure, many tests are being conducted to discern whether or not brain stem cell transplants are a viable treatment option.

A brain stem cell transplant includes an insertion of fetal stem cells into the brain The cells come from aborted fetuses and yield an enzyme which is needed in order for the brain to remove waste. This method was tested in mice and exhibited potential. Doctors inject the stem cells into the brain via holes drilled into the mice’s skull (Elias 1 of 2, 2 of 2). According to Paul Elias (2005), “If there is success, people afflicted with other brain disorders could benefit from such treatment. ” (2 of 2) While certain treatments necessitate surgery, mycophenolate is a drug that is used to treat Battens.

Mycophenolate mofetil is an FDA-approved drug used to suppress the immune system and avoid organ rejection in children. Multiple chemical tests are being conducted to test the safety of the drug in children and its effectiveness in the reduction or discontinuation of Batten disease progression. Thirty Batten inflicted patients will be included in the trial. The patients will be on medication for eight weeks and a placebo for a separate eight weeks. This test, however, is not yet proven to work (First controlled Clinical Trial for Juvenile Batten Disease to Start, 2 of 8, 3 of 8).

According to Google online (2011), Erika Augustine, M.D, the co-principal investigator of the clinical trial says, Although mycophenolate is approved for use in children to prevent transplant rejection, there are risks. The biggest risk for anyone whose immune system is suppressed is infection, but they could also become anemic. However, other than having Batten disease, these children are usually healthy. We hope they will tolerate the trial well. (3 of 8) This author is inquisitive about what the conclusion of this treatment will bring. A great quantity of research is in progress for Batten disease including an extensive diversity of tests.

Various scientists are working with animal models. This is to improve the apprehension and treatment of Batten disease that scientists have. In one test bone marrow was transplanted in Batten-inflicted sheep. In addition, mice are used because of the simple study of their genetics and the disease (Batten Disease Information Page, 2 of 3). These numerous tests have led to an assortment of findings. Several discoveries regarding the cause of Batten disease have occurred. A recent uncovering indicates that the insufficient activity of the palmitoyl-protein thioesterase enzyme is a partial cause of infantile Battens.

An acid protease deficiency has been discovered to lead to late infantile Batten disease. Scientists have unearthed the fact that Batten disease is caused by a mutated gene; yet, the gene codes have not yet been deciphered (Batten Disease Information Page, 2 of 3). The complications of Batten disease transform the lives of sufferers and their families. It is believed that hundreds of children are affected by Batten disease in the United States alone. Time must pass for the many tests and studies to conclude, and hopefully a cure may finally be uncovered to this menacing ailment.

Studies and research will continue to seek alleviation for a variety of diseases. As they persevere on their transcendent quest, how this world subsists with the many challenges and tribulations that take the lives of loved ones is equal in significance to the research and studies of those searching for an antidote to the sting of death. This author hopes that the good is appreciated in these misfortunes; moreover, death brings relief from the world’s pain and suffering. All in all, death, no matter how painful or agonizing, conveys the soul unto eternal joy and happiness.

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