Scientists have found the genetic defect responsible for one type of ataxia and developed a quick blood test for identifying people who have the brain-destroying disease or are almost certain to get it.
The test represents a breakthrough for families with a history of inherited ataxia, because it could help them decide whether to have children and make other major decisions about their lives.
Ataxia is a slow, progressive disorder that robs people of coordination and can eventually lead to dementia and death.
The newly discovered gene, called SCA2, is responsible for what is known as spinocerebellar ataxia type 2. The blood test can identify people who carry the defect and can also distinguish the disease from others. In addition to making the blood test possible, the discovery of SCA2 also could help scientists in their search for a cure and a treatment.
Dr. Stefan Pulst, lead researcher and director of the Division of Neurology at Cedars-Sinai Medical Center, presented his findings Wednesday at the annual meeting of the American Society for Human Genetics in San Francisco.