Warren Tay: Inborn Error Of

Dzevdet Smajlovic, professor from the Department of Neurology at the University of Tuzla in Bosnia stated that

Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disorder that occurs chiefly in infants and children, especially those of the Jewish heritage. It is characterized by a red spot in the retina, paralysis, gradual blindness, and loss of muscle movement.

suffered from was called Encephalitis Lethargica (Saxon). A doctor was called in to treat the

Tay Sachs Disease, or TSD, is a fatal genetic disorder that result in the degeneration of the nervous system. TSD is presented in three forms, those being classic infantile, juvenile and adult late-onset. The most commonly seen form of TSD is that of classic infantile Tay Sachs Disease. In the classic infantile form, infants generally experience their first symptoms by 6 months of age. Death of infants with TSD is typically by age 5. The symptoms that TSD infants will experience prior to death include: an onset of retardation, paralysis, dementia, blindness and reoccurring seizures. The absence of hexosaminidase-A, or what we will refer to as Hex-A, is the cause

The father of neurology, Dr. Charcot, examined the brain of a deceased patient because the patient had a tremor unlike anything he has treated before. He noticed plaques or abnormal clusters of chemically sticky proteins that build up amongst nerve cells. He also described the patient’s symptoms and changes in the brain that accompanied the plaques; this was the first description of multiple sclerosis. In England in 1873 and in the United States in 1878, multiple sclerosis was first recognized based off of Dr. Charcot’s description of the disease. In 1916, Dr. James Dawson performed autopsies on brains of patients who died with multiple

The term ganglioside lipid was thought of because of the high abundance of the brain lipid in normal ganglion cell, a type of brain cell. Other names Tay Sachs disease is known by are B variant GM2 gangliosidosis, GM2 gangliosidosis, type 1, HexA deficiency, Hexosaminidase alpha-subunit deficiency, (variant B), Sphingolipidosis (Genetics Home Reference, 2017). Tay Sachs disease is diagnosed by prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, can diagnose Tay Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease. CVS is performed between 10 and 12 weeks of pregnancy and involves taking a sample of cells from the placenta via the vagina or abdomen. Amniocentesis is done between 15 and 20 weeks of pregnancy and involves extracting a sample of the fluid surrounding the fetus using a needle through the mother’s abdomen (Herndon, 2016). If a child is displaying symptoms of Tay Sachs disease, doctors and get a family history, do blood work, tissue sample or do an eye exam to see if the child has a red spot near the

It became known that it was a genetic mutation on the HEXA gene on chromosome 15 that caused the disease. he HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme in the lysosome (works to destroy toxins and recycles waste) breaks down fatty structures, GM2 Gangliosides. When the gene mutation is visible, a defected beta-hexosaminidase A and they can’t properly break down the gangliosides. The buildup of gangliosides reach toxic levels and provide damage around the brain and spinal cells. They destroy the neurons around those areas, causing Tay-Sachs symptoms to become apparent like bad coordination and mental problems There are a large number of HEXA mutations discovered to be responsible for the Tay-Sachs. The mutations include base pair insertions and deletions, splice site mutations, point mutations, and other complex patterns. Each mutation alters how the protein works to produce, and overall alters the enzyme's

Tay-Sachs disease is a rare genetic disorder. Nathan Harney was only 10 months old when he was diagnosed with this fatal disease. At an early age, he started to lose his skills and had consistent seizures. He couldn’t walk, sit, or stand on his own. During a careful eye examination, Nathan’s doctor found a cherry red spot in his eye which led him to the conclusion that he suffered from Tay-Sachs. Later, after he had genetic testing, Nathan was officially diagnosed with the genetic disorder Tay-Sachs. Sadly, Nathan passed away on June 18, 2015 at the age of four (Aaron and Kathryn Harney, 2011).

The Pyramid of choice would be defined as justifying their individual actions, they slide down to the bottom as they continue to justify “but by the time the person is at the bottom of the pyramid, ambivalence will have morphed into certainty, and he or she will be miles away from anyone who took a different route.” The authors of Mistakes were Made (but not by me), Tavris and Aronson, did prove the existence of such a pyramid when she used the twins as an example the one who didn’t cheat considered the other one to be immoral, and the one who cheated thinks the other is hopeless “this process illustrates how people who have been sorely tempted, battled temptation, and almost given into it,”. One example of someone who resisted the slide down

This disease causes the deterioration of the nerve cells and physical state for the first 6 months. Some symptoms during the infantile stage are blindness, deafness, and the inability to swallow. Sometimes the infant could be born paralytic. At juvenile age, the child may experience cognitive and motor skill deterioration. Motor speech, muscle movement, and swallowing are all non-apparent in the juvenile. Genetically, Tay-Sachs disease is caused by the HEXA gene. This gene provides instructions for making enzyme, beta-hexosamindase A, which is essential in brain, nerve, and spinal cord development. Mutations in this gene cause the beta-hexosamindase A from breaking down GM2 ganglioside which results in the accumulation of gangliosides in the brains nerve cells, thus causing Tay-Sachs disease. Tay-Sachs develops when very harmful gangliosides collect in the brains verve cells which ultimately result in death of the cells. Tay Sachs can be identified as a cherry-red spot located on the nerve

The enzyme hexosaminidase is a crucial hydrolytic enzyme found in the lysosomes. When this enzyme no longer functions properly, lipids accumulate in the brain and cause interference with normal mental processes. Simple blood tests can determine presence of Tay-Sachs due to measurement of the levels of activity for hexosaminidase. The hydrolysis, (or breakdown) of the gangliosides requires three proteins: two of which are subunits of the enzyme hexosaminidase A, and the other being a small glycolipid transport protein that acts as a substrate (catalyst) for the enzyme. Deficiency in any of these proteins can lead to abnormal ganglioside storage, primarily in the lysosomes of neurons. Tay-Sachs disease occurs because of a mutation like this, either inhibiting or deactivating this process. The mutation occurs not at the active site, but instead because of incorrect function of intracellular transport. Infants with the disease Tay Sachs usually appear normal and healthy until three to six months of age. At this time, their development usually begins

Tay-Sachs disease is an inherited disorder that progressively destroys nerve cells in the brain and spinal cord. Commonly it becomes apparent in infancy. Infants with this disorder usually appear normal until ages 3-6 months, when their development slows and muscles used for movement weaken.

Tay-Sachs follows an autosomal recessive pattern – both copies of the gene possess mutations. Warren Tay first described it in 1881. Bernard Sachs was the first to describe cellular changes and the genetics of it, in 1887. Tay described a patient with a cherry-red spot on their retina. Sachs established the connection the familial connections of the disorder, noting that most babies who had Tay-Sachs were of Eastern European, Jewish descent. If symptoms and physical characteristics suggest that a child may be suffering from Tay-Sachs disease, blood tests are used to determine whether or not the child’s body is producing the necessary Hex-A enzyme. DNA is extracted from the sample in an attempt to detect mutations of the Hex-A. There is no known cure for Tay-Sachs disease. For treatment and to ease the pain of/reduce some of the side effects, doctors may prescribe seizure medications. It is highly recommended that Tay-Sachs patients begin some form of Respiratory therapy. This type of therapy is necessary because children who have Tay-Sachs have a high chance of developing lung

Tay Sachs is a inherited and rare genetic disorder named after the two scientists that discover significant aspects of the disease. Their names are Warren Tay and Bernard Sachs. Warren Tay was a ophthalmologist who discovered the cherry red spot on the retina of the eye. Whereas, Bernard Sachs, a neurologist, discovered the cellular changes of the disorder (National Tay Sachs & Allied Disease Association, 2015). Tay Sachs varies and the most common being in infants. What is Tay Sachs disease? Tay Sachs is a inherited genetic disorder where both parents carry the gene and pass it on to their child.

In 1906 a physician, named Alois Alzheimer, cared for a fifty-one year old patient with severe dementia. Upon her death, he was able to examine her brain at autopsy. Dr. Alzheimer was able to take advantage of recent innovations in microscopy and histological techniques that allowed him to study in detail the cellular components in nervous tissue. He found that the brain of his patient had severe cortical atrophy and described the neurofibrillary bundles and plaques that are now the hallmark for definitive diagnosis of what he at that time called “presenile dementia”. An account of his first patient was published in 1907. It is a little ironic that reevaluation this case has lead some to believe that this first patient did not suffer from the Alzheimer’s disease at all. Instead they believe she suffered from a different, rare disease called metachromatic leukodystrophy (Izenberg, 2000).