What research is being done on ataxia telangiectasia?

What research is being done on ataxia telangiectasia?

What research is being done? NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death.

Are there any treatments for ataxia telangiectasia?

Although no specific treatment is available, several features of ataxia-telangiectasia are accessible to active therapy. This applies especially to infections. Correction of ATM mutations may hold promise for the future.

When was ataxia telangiectasia discovered?

June 1995. Scientists have isolated the gene and identified mutations that cause the childhood disease ataxia-telangiectasia (A-T), a rare hereditary neurological disorder. Discovery of the gene paves the way for more accurate diagnosis in the short term and the potential for effective treatments in the long term.

How do you prevent ataxia-telangiectasia?

Prevention

1. Physical Therapy. Studies show that the single most important supportive therapy for A-T patients is aggressive physical therapy (Spacey et al.
2. Intravenous Immunoglobulin (IVIG) Treatment.
3. Radiation Avoidance.
4. Breast Cancer Screening.

Are there prenatal tests to help detect ataxia-telangiectasia?

Prenatal testing is available to individuals with a known family mutation. Genetic testing can be performed on amniocytes obtained through amniocentesis or chorionic villi obtained through a chorionic villus sampling. This section includes relevant guidelines and evidence pertaining to Ataxia- telangiectasia testing.

How is ataxia-telangiectasia passed down?

Ataxia telangiectasia is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.

How many people in the world have ataxia telangiectasia?

Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide.

How does ataxia telangiectasia work?

Cells from people with ataxia-telangiectasia carry two changed copies of the ATM gene in their cells. One changed copy was inherited from the mother, and another changed copy was inherited from the father. The changes cause the ATM gene to not work properly.

What is ataxia telangiectasia mutated gene?

Ataxia-telangiectasia mutated is a serine/threonine kinase that is recruited to sites of DNA double-strand breaks and signals to various downstream targets to initiate cell cycle arrest and DNA repair (1).

Is there a cure for ataxia?

Ataxia has no cure. There are no medications that can specifically treat and cure the symptoms of ataxias. However, medications may ease the symptoms by treating the underlying condition that causes the ataxia.

How can you treat spinocerebellar ataxia?

Treatment Options For Spinocerebellar Ataxia Certain Medications. Patients may need to use one or more medications to treat the symptoms caused by their disorder. Physical Therapy. Spinocerebellar ataxia patients may benefit from undergoing physical therapy as a part of their treatment plan. Use Of Adaptive Devices. Occupational Therapy. Speech Therapy.

Can ataxia telangiectasia be prevented?

Currently, there are no specific methods or guidelines to prevent Ataxia Telangiectasia, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding…

How is ataxia diagnosed?

Ataxia is diagnosed using a combination of a patient’s medical history, their family’s medical history, a detailed physical examination, and MRI scans and blood tests to rule out other disorders. There are genetic blood tests available for some forms of hereditary ataxia.