Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. Its most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma-rays. The first signs of the disease, which include delayed development of motor skills, poor balance, and slurred speech, usually occur during the first decade of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 20% of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.
Is there any treatment?
There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and occupational therapy may help maintain flexibility. Speech therapy may also be needed. Gamma-globulin injections may be given to help supplement a weakened immune system. High-dose vitamin regimens may also be used.
What is the prognosis?
The prognosis for individuals with A-T is poor. Those with the disease usually die in their teens or early 20s.
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 a number of other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group which includes members from NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD.
Select this link to view a list of studies currently seeking patients.
OrganizationsAtaxia Telangiectasia (A-T) Children's Project
668 South Military Trail
Deerfield Beach, FL 33442-3023
Info@atcp.org
http://www.atcp.org
Tel: 954-481-6611 800-5-HELP-A-T (543-5728)
Fax: 954-725-1153
Ataxia Telangiectasia (A-T) Medical Research Foundation
16224 Elisa Place
Encino, CA 91436
atmrf@aol.com
Tel: 818-906-2861
Fax: 818-906-2870
National Ataxia Foundation (NAF)
2600 Fernbrook Lane North
Suite 119
Minneapolis, MN 55447-4752
naf@ataxia.org
http://www.ataxia.org
Tel: 763-553-0020
Fax: 763-553-0167
A-T Ease Foundation, Inc.
532 LaGuardia Place
Suite 404
New York, NY 10012
info@ateasefoundation.org
www.ateasefoundation.org
Tel: 212-529-0622
Fax: 212-505-8031
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
National Cancer Institute (NCI)
National Institutes of Health, DHHS
6116 Executive Boulevard, Ste. 3036A, MSC 8322
Bethesda, MD 20892-8322
cancergovstaff@mail.nih.gov
http://cancer.gov
Tel: 800-4-CANCER (422-6237) 800-332-8615 (TTY)
Related NINDS Publications and Information
NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page
Ataxias and Cerebellar/Spinocerebellar Degeneration information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Drug Screening for Ataxia-Telangiectasia
The Role of DNA Damage Response Defects in Neurogenetic Diseases
The Role of DNA Damage Response Defects in Neurogenetic Diseases
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
Is there any treatment?
There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and occupational therapy may help maintain flexibility. Speech therapy may also be needed. Gamma-globulin injections may be given to help supplement a weakened immune system. High-dose vitamin regimens may also be used.
What is the prognosis?
The prognosis for individuals with A-T is poor. Those with the disease usually die in their teens or early 20s.
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 a number of other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group which includes members from NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD.
Select this link to view a list of studies currently seeking patients.
OrganizationsAtaxia Telangiectasia (A-T) Children's Project
668 South Military Trail
Deerfield Beach, FL 33442-3023
Info@atcp.org
http://www.atcp.org
Tel: 954-481-6611 800-5-HELP-A-T (543-5728)
Fax: 954-725-1153
Ataxia Telangiectasia (A-T) Medical Research Foundation
16224 Elisa Place
Encino, CA 91436
atmrf@aol.com
Tel: 818-906-2861
Fax: 818-906-2870
National Ataxia Foundation (NAF)
2600 Fernbrook Lane North
Suite 119
Minneapolis, MN 55447-4752
naf@ataxia.org
http://www.ataxia.org
Tel: 763-553-0020
Fax: 763-553-0167
A-T Ease Foundation, Inc.
532 LaGuardia Place
Suite 404
New York, NY 10012
info@ateasefoundation.org
www.ateasefoundation.org
Tel: 212-529-0622
Fax: 212-505-8031
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
National Cancer Institute (NCI)
National Institutes of Health, DHHS
6116 Executive Boulevard, Ste. 3036A, MSC 8322
Bethesda, MD 20892-8322
cancergovstaff@mail.nih.gov
http://cancer.gov
Tel: 800-4-CANCER (422-6237) 800-332-8615 (TTY)
Related NINDS Publications and Information
NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page
Ataxias and Cerebellar/Spinocerebellar Degeneration information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Drug Screening for Ataxia-Telangiectasia
The Role of DNA Damage Response Defects in Neurogenetic Diseases
The Role of DNA Damage Response Defects in Neurogenetic Diseases
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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