Fragile X tremor/ataxia syndrome: Abbreviated FXTAS (pronounced fax-tass). A progressive neurological disorder that strikes men over age 50 and causes tremor , ataxia (balance problems) and dementia that become increasingly severe with age. These men may be misdiagnosed with Parkinson's or Alzheimer's disease. The disorder is due to a small mutation (premutation) in the same gene that causes fragile X syndrome , the most common cause of inherited mental retardation.
Men with FXTAS are usually born with normal intelligence but in their 50s develop intention tremor, parkinsonism , cognitive decline, and impotence . They have atrophy (shrinkage) of the brain. The premutation of the fragile X gene ( FMR1 ) is evident on DNA analysis. FXTAS was first reported in 2001.
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