Fragile X-associated tremor /ataxia syndrome (FXTAS) needs guidelines to have diagnostic tests designed for early detection, as it is difficult to diagnose.
According to a study published in the July 26 issue of Neurology, the scientific journal of the American Academy of Neurology, diagnosis of the disease early is required as the disease is often confused with other similar disorders.
A multi-center study found 56 people had received 98 prior diagnoses, including Parkinson?s and essential tremor, before FXTAS was concluded. The researchers believe this was partly due to the recent definition of FXTAS and a lack of familiarity with the disorder. The information about previous diagnoses encouraged them to develop guidelines for diagnostic testing for FXTAS.
Men age 50 and older who develop unexplained ataxia should undergo testing to check if they have the FMR1 gene, said co-author Maureen A. Leehey, MD, of the University of Colorado Health Sciences Center in Denver. ?Also men 50 and older who have tremor, Parkinson?s disease, or dementia, along with a family history of developmental delay, autism, mental retardation, or premature ovarian failure, should be tested for the gene.
These guidelines are reasonable but may change in the future as larger numbers of patients are detected, according to an editorial published in the same issue of Neurology.
A second study in Ireland examined a 70-year-old woman with mild ataxia and tremor that became severe after receiving chemotherapy to treat breast cancer. She had two sons with Fragile X syndrome. The researchers concluded she had FXTAS after a genetic test using DNA from a blood sample showed that she carried the FMR1 gene. Her symptoms became mild again after chemotherapy stopped.
About 1 in 259 women carry the FMR1 gene, but FXTAS is rarely reported in women, said co-author John P. O?Dwyer, MRCPI, of St. Vincent?s University Hospital in Dublin.
You might expect to see FXTAS more often, but it may only become evident when toxic effects from a procedure like chemotherapy push mild symptoms to the forefront.
Medindia on FXTAS : Further information
Fragile X-associated tremor /ataxia syndrome or FXTAS: This is a neurological disorder that affects men in the age of 50 yrs or more and causes tremor, problems in the balance and dementia and the condition becomes stronger with age. Often the disease is confused with Parkinson's disease or Alzheimer's disease. The cause of the disorder is a mutation of the fragile X gene that causes mental retardation.