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About The National Ataxia Foundation

The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

Supporting Promising Ataxia Research Since 1957

NAF is a membership supported, nonprofit organization established in1957 to help persons with ataxia and their families. The Foundation's primary purpose is to support promising ataxia research and to provide vital programs and services for ataxia families.

Looking For a Cure - Research Programs

In 1978 the Foundation first began direct funding of ataxia research through the NAF Research "Seed-Money" Program. Since that time, the Foundation has established additional research programs which have included programs such as the NAF Young Investigator Award, the NAF Fellowship Award and other research initiatives.

NAF research programs continue to fund promising ataxia research studies throughout the world. The Foundation supports research in dominant ataxia (including SCAs), recessive ataxia (including Friedreich's) and sporadic ataxia.

We Provide the Latest Ataxia News and Information

The Foundation has developed an extensive library of NAF brochures, fact sheets, books, and videos on ataxia. Also available to its members is the Foundation's quarterly news publication, "Generations". This 48 page ataxia news magazine provides the latest information on ataxia research, articles on living with ataxia, personal accounts from ataxia families throughout the United States, and much more.

Connecting the Ataxia Community

The Foundation offers a Resource List of neurologists in your area and provides Bulletin Boards, Chat Rooms, NAF Pen Pal Programs, and other venues for ataxia families to connect with one another. One additional way the Foundation offers ataxia families to connect is through the annual membership meetings. Held in a different geographical location each year, these three day conferences give a comprehensive look at ataxia through experts in the field of ataxia research, genetics, physical therapy, living with ataxia, coping, financial planning, caregiving, and alike.

The Foundation attends and participates at a number of medical conferences and Ability Expos throughout the year. In addition, the Foundation sponsors various research symposiums including the NAF Ataxia Investigators Meetings (AIM). On a local level, the Foundation continues to establish NAF Chapters, NAF Support Groups, and NAF Ambassadors throughout the United States, Canada and abroad.

Friedreich’s Ataxia

Friedreich’s ataxia is an inherited disease that causes progressive damage to the nervous system.It can result in muscle weakness, speech difficulties or heart disease. The first symptom is usually difficulty in walking. Many persons with ataxia eventually use wheelchairs.It is named after the physician Nicholas Friedreich, who first described the condition in the 1860s. Ataxia refers to coordination problems and unsteadiness, and occurs in many different

diseases and conditions. In Friedreich’s ataxia, there is degeneration of nerve tissue in the spinal cord and of nerves that control arm and leg movement. The spinal cord becomes thinner and nerve cells lose some of the insulation (myelin) that helps nerves conduct impulses.Friedreich’s ataxia affects about 1 in every 50,000 people in the United States. Males and females are affected equally. Symptoms usually begin between the ages of 5 and 15 but can appear as early as 18 months or as late as age 30.Early signs may include foot, involuntary bending of the toes, or foot inversion (turning in). Rapid, involuntary movements of the eyeball are common. Most people with Friedreich’s ataxia

develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing.Other symptoms include chest pain, shortness of breath, and heart palpitations. Doctors diagnose Friedreich’s ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Several tests may be performed, including electromyogram (EMG) and genetic testing. There is currently no effective cure or treatment for Friedreich’s ataxia. However, many of the symptoms and accompanying complications can be treated to help people maintain optimal functioning.

Friedreich’s Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease has not been found may indicate new genetic changes (mutations) that occur spontaneously. Friedreich’s Ataxia results from mutations of a gene known as "X25, or 2 frataxin, a protein that should normally be present in the nervous system, the heart, and the
pancreas. The protein is severely reduced in people with Friedreich’s ataxia.

Studies indicate that patients have abnormally high levels of iron in their heart tissue and that the nervous system, heart, and pancreas may be particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen). Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to free radical damage. The discovery of the genetic mutation that causes Friedreich’s ataxia has added new impetus to research efforts on this disease.

Sources: National Institute of Neurological Disorders and Stroke, National Organization for Rare

Disorders
California

UCLA Ataxia Clinic - Dr. Susan Perlman
Stanford Movement Disorders Center - Dr. Rosalind Chuang
UCSF Neurogenetics Cognitive & Movement Disorder Clinic | UCSF Memory and Aging Center - Dr. Sharon Sha