Krabbe Disease Research Paper

The cause of encephalitis lethargica is unknown. Between 1917 to 1928, an epidemic of encephalitis lethargica spread throughout the world, but no recurrence of the epidemic has since been reported. Postencephalitic Parkinson's disease may develop after a bout of encephalitis-sometimes as long as a year after the

Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.

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

One of the cases of AS was first found in the US in the early 1980’s. The University of Florida became one of the first main research groups under the supervision of Dr. Charles Williams. In 1987, a genetic “marker” was discovered, a missing code on a tiny portion chromosome number 15. Ten years later Dr. Joseph Wagstaff and Dr. Arthur discovered the cause of this as a mutation in the UBE3A gene. Every year roughly 12,000 people get this disease

have been trying to find the exact cause of this disease and how it can be treated so

The rare disease caused lesions to form, attacking Larance's brain stem and spinal cord. Kimbro said:

Multiple sclerosis has existed long before it had a name, just like many other diseases. In 1838, Dr. Jean-Martin Charcot became the first person credited with identifying multiple sclerosis as a disease. Charcot was a French scientist and physician who is claimed to be the founder of modern neurology. A female patient of his suffered an unusual combination of symptoms and he tried some of the typical treatments

Since the original discovery there have been little to no advancement past discovering the types of the disease and treating the symptoms they have,instead of developing a treatment for the genes itself. The need to develop a cure is very severe for the young children that have no chance for a life past 5 years old. The second major person who researched Schindler disease was Dr.Hiro Kanzaki,who wrote and published a paper on it in 2006. Schindler disease is a lysomal storage disease, also known as (LSD’s) that is caused by a defection in a lysome, causing the disorder(https://www.ntsad.org/index.php/lysosmal-storage-diseases). The NAGA gene by which this disorder is caused occurs on chromosome 22.

Phenylketonuria is also know as PKU. It is a rare inherited disease where the progression of phenylalanine builds up inside the human body. Phenylalanine is a natural substance that is a building block of protein. People with PKU can not break up amino acid phenylalanine, which can lead to brain damage due to the phenylalanine building up into the blood and

The second stage of Krabbe’s disease involves aplasia and hypoplasia, which is a defective development of the abdominal wall musculature. There is also hypertonia, which is damage to the Central Nervous System (CNS). The CNS is the brain and the spinal cord, which controls most of the functions of the body and mind. There is also visual impairment, sensorineural hearing loss (SNHL), cognitive impairment, and electromyography (EMG) abnormalities (ORDR). These symptoms vary from person to person (Wenger 2000). Some less common

They looked at the autopsy reports and the preserved brain samples and realized that the disease was similar to autoimmune brain diseases seen in humans. Brain samples revealed antibodies to the NMDA receptor, indicating an attack by Knut’s own immune system. Since very little was known about the autoimmune origin of encephalitis, and only now have diagnostic tests been developed for humans, Knut’s diagnosis was implausible at the time of his death. Today, once the bacterial and viral reasons are ruled out, the anti-NMDA receptor autoimmune condition is checked for as the next likely candidate in diagnosing encephalitis. Solving Knut’s case brought the similarities between the human and animal manifestations of this disorder to

Most cases of Alexander disease begin before age 2 and are described as the infantile form. Signs and symptoms of the infantile form typically include an enlarged brain and head size

“[Twenty-five] Important Klinefelter Syndrome Statistics. Klinefelter syndrome [KS] is a genetic chromosomal condition that affects only men.” (healthsearch funding.org.) Klinefelter Syndrome causes changes to their cognitive and physical development.The Klinefelter syndrome affects a lot of sex characteristics the origin of this syndromes discovery was in 1442 by a doctor named Harry Klinefelter and his co-workers when they first described the features that is known as Klinefelter Syndrome. Klinefelter syndromes symptoms are diagnosed according to what causes Klinefelter syndrome. The syndrome is not inherited it is a random mutation. Doctors after diagnosis, will prescribe/suggest treatment that will not get rid of the syndrome. Klinefelter syndrome is generally found in any age of the male sex.

The Batten disease is characterized as an autosomal recessive, fatal disorder that consists of detrimental effects on the nervous system. Although the disease typically presents during childhood, there are many forms that show signs at various ages. Batten disease, also known as Spielmeyer-Vogt-Sjögren-Batten disease, is named after the British pediatrician who first correlated its symptoms with the disease progression in 1903. This disease is the most common type of a group of disorders called neuronal ceroid lipofuscinoses, or NCLs. Although Batten disease originally referred specifically to the juvenile form of NCL (JNCL), the term is now increasingly used by pediatricians to describe all forms of NCL.

Women can be carriers of KS without knowing it and easily be the reason her son would have Klinefelter syndrome. Being a carrier means that the person does not show any effects or symptoms from the disease however still carries it around. Many people do not know that are carriers of certain diseases and will only know if their offspring has that disease. Klinefelter syndrome will have no effect on the woman carrying it however if it was a male with KS, the symptoms will clearly