Saturday, February 20, 2010
Diagnostic criteria for FXTAS (fragile x associated tremor ataxia syndrome)
Molecular-- CGG repeat 55-200
Clinical
Major intention tremor, cerebellar ataxia
Minor Parkinsonism, moderate to severe short term memory loss, executive function deficit
Radiologic
Major white matter lesions in middle cerebellar peduncles (MCP sign)
Minor lesions in cerebral white matter, moderate to severe brain atrophy
Diagnostic categories
Definite-- one major clinical, and one major radiologic, or present inclusions at autopsy
Probable-- two major clinical, or one minor clinical and one major radiologic
Possible-- one major clinical and one minor radiologic
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