Any specifics about what you need?

Here's some good general info:

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/

http://www.genome.gov/10001220

Here's an old school article on the ID of the disorder:

http://www.sciencemag.org/content/165/3894/698.short

Thanks, and I need more information about Tay-Sachs in general, so this will be very helpful, thanks again

it is one of metabolic disorders that you can find it with searching keyword like: "exceptional children & metabolic disorders"

Here's a fantastic website for finding articles related to human genetic diseases: http://www.ncbi.nlm.nih.gov/omim/

You can simply search for "Tay-Sachs," and it will bring up a list of published articles of all stripes, including medical case studies, articles on gene function, etc. It should be a great starting point for your research paper.

Thank you, this will help a lot

it is genetic disorderTay–Sachs diseaseFrom Wikipedia, the free encyclopediaJump to: navigation, search

Tay–Sachs disease

Classification and external resources

Cherry-red spot as seen in Tay Sachs disease. The center of the fovea appears bright red because it is surrounded by a milky halo.

ICD-10 E75.0

ICD-9 330.1

OMIM 272800 272750

DiseasesDB 12916

MedlinePlus 001417

eMedicine ped/3016

MeSH D013661

Tay–Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant, known as infantile Tay–Sachs disease, it causes a relentless deterioration of mental and physical abilities that commences around six months of age and usually results in death by the age of four. It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is no cure or treatment.

The disease is named after British ophthalmologist Warren Tay, who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs of Mount Sinai Hospital, New York who described the cellular changes of Tay–Sachs and noted an increased prevalence in the Eastern European Ashkenazi Jewish population in 1887.

Research in the late 20th century demonstrated that Tay–Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in specific populations. French Canadians of southeastern Quebec have a carrier frequency similar to Ashkenazi Jews, but they carry a different mutation. Cajuns of southern Louisiana carry the same mutation that is most common in Ashkenazi Jews. HEXA mutations are rare, and do not occur in genetically isolated populations. The disease can occur from the inheritance of two unrelated mutations in the HEXA gene.

Contents [hide]

1 Signs and symptoms

1.1 Late onset

2 Genetics

3 Pathophysiology

4 Diagnosis

5 Prevention

6 Epidemiology

7 History

8 Society and culture

9 Research directions

9.1 Enzyme replacement therapy

9.2 Gene therapy

9.3 Substrate reduction therapy

10 Management and prognosis

11 References

12 External links

[edit] Signs and symptomsTay–Sachs disease is classified in variant forms, based on the time of onset of neurological symptoms.[1][2]

Infantile Tay–Sachs disease. Infants with Tay–Sachs disease appear to develop normally for the first six months after birth. Then, as nerve cells become distended with gangliosides, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, unable to swallow, develops atrophy and paralysis. Death usually occurs before the age of four.[1]

Juvenile Tay–Sachs disease. Extremely rare, juvenile Tay–Sachs disease usually presents itself in children between two and 10 years of age. They develop cognitive and motor skill deterioration, dysarthria, dysphagia, ataxia, and spasticity. People with Juvenile Tay–Sachs disease usually die between five and fifteen years.[3]

Adult/Late Onset Tay–Sachs disease. A rare form of the disorder, known as Adult Onset Tay–Sachs disease or Late Onset Tay–Sachs disease, occurs in people in their 20s and early 30s. Late onset Tay–Sachs is frequently misdiagnosed, and is usually non-fatal. It is characterized by unsteadiness of gait and progressive neurological deterioration. Symptoms of Late onset Tay–Sachs, which present in adolescence or early adulthood, include speech and swallowing difficulties, unsteadiness of gait, spasticity, cognitive decline, and psychiatric illness, particularly schizophrenic-like psychosis.[4]

[edit] Late onsetUntil the 1970s and 1980s, when the molecular genetics of the disease became known, the juvenile and adult forms of the disease were not always recognized as variants of Tay–Sachs disease. Post-infantile Tay–Sachs was often mis-diagnosed as another neurological disorder, such as Friedreich ataxia.[5] People with Late onset Tay–Sachs frequently become full-time wheelchair users in adulthood. Psychiatric symptoms and seizures can be controlled with medication.[6]

[edit] Genetics

Tay–Sachs disease is inherited in the autosomal recessive pattern, depicted above.

The HEXA gene is located on the long (q) arm of chromosome 15 between positions 23 and 24.Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.[1] This also means that mutations can be passed down generations without manifesting as a genetic disorder.[7] Autosomal genes are chromosomal genes that are not located on one of the sex chromosomes. Every individual carries two copies of each autosomal gene, one copy from each parent. When both parents carry a mutation, the classic 25% Mendelian ratio determines the likelihood of disease.[1]

The disease results from mutations on chromosome 15 in the HEXA gene encoding the alpha-subunit of beta-N-acetylhexosaminidase A, a lysosomal enzyme. By 2000, more than 100 mutations had been identified in the HEXA gene.[8] These