Working as part of the Fireman Vascular Center, the interventional specialists of the Neuroendovascular Program perform minimally invasive, image-guided treatments for conditions including stroke and cerebral aneurysm. In addition, our specialty-trained radiologists use the latest imaging technologies to provide diagnostic exams for a full range of neurological conditions.
The Neuro-ophthalmology Service at Massachusetts General Hospital provides expert evaluation, diagnosis and treatment for patients who have vision problems with a neurologic basis.Access Patient Gateway
Neuro-ophthalmology Service: 617-726-8639
General Pediatric Neurology physicians diagnose and treat all neurological disorders in children, infants and adolescents.
The Massachusetts General Hospital Ataxia Unit provides expert diagnosis, treatment and education for patients with ataxia and other cerebellar disorders.Access Patient Gateway
Ataxia Unit: 617-726-3216
The Pediatric Neurosurgery service at MassGeneral Hospital for Children diagnoses and treats all neurosurgical conditions of infants, children and adolescents, with special expertise in the management of pediatric brain tumors, hydrocephalus, spinal cord disorders, Chiari malformations, craniosynostosis, AVM's and epilepsy surgery.
For more more information, contact our Neurosurgery Serice at: 617-643-9175
Ataxia Telangiectasia (A-T)
Ataxia telangiectasia (A-T) is a rare inherited childhood disease that affects the nervous system and other body systems. The effects of A-T usually begin to appear by the age of 5 in a child affected by the disease.
What causes A-T?
A-T is caused by mutations in a gene on chromosome 11 known as the ATM gene, which is involved in cell cycle control. This neurodegenerative disorder is inherited in an autosomal recessive fashion, which means that two mutated ATM genes are necessary to produce the condition--one inherited from each parent. People with only one ATM mutation are referred to as "carriers."
Some studies suggest that people who are carriers of an ATM mutation are at an increased risk to develop breast cancer. It is estimated that about 1% of the U.S. population, or about 2.5 million people, may be carriers for an ATM mutation. This may lead one to believe that many people with breast cancer develop it because of an ATM mutation. When breast cancer patients are studied, however, they do not have an excess of ATM mutations as compared with people without breast cancer. Therefore, the association between ATM mutations and breast cancer risk remains unclear. Studies are being done to better understand this possible link.
What are the symptoms of A-T?
Symptoms of A-T can develop in early childhood, but may develop later in adolescence or adulthood. Symptoms may include:
Poor balance and slurred speech
Ataxia (lack of muscle control leading to an awkward gait when walking)
Telangiectasias (tiny, red "spider" veins) in the corners of the eyes or surfaces of the ears and cheeks (soon after the onset of ataxia)
Other symptoms of A-T include:
Weakened immune system
Increased risk of leukemia
Increased risk of lymphoma
Extreme sensitivity to ionizing radiation (for instance, radiation from X-rays)
The symptoms of A-T may look like other conditions or medical problems. A doctor should be consulted for a diagnosis.
How is A-T treated?
There currently is no cure for A-T. It is managed by treating the symptoms and supportive care. Treatment for A-T may include:
Genetic counseling for family planning