From: Emerging topics in FXTAS
FXTAS category:a | Exam and degree | Observation |
---|---|---|
Definite: | Radiological | |
One clinical major and one of the following: | Major | MRI white matter lesions in middle cerebellar peduncle and/or brain stem |
 • one radiological major criterion | Minor | MRI white matter lesions in cerebral white matter |
 • presence of intranuclear inclusion | Minor | Moderate to severe generalized atrophy |
Clinical | ||
Probable: | Major | Action tremor |
One of the following: | Major | Cerebellar gait ataxia |
Minor | Parkinsonism | |
 • two clinical major criteria | Minor | Moderate to severe short-term memory deficiency |
 • one radiological major criterion and one clinical minor criterion | Minor | Executive function deficit |
Pathological | ||
Major | Classic FXTAS CNS intranuclear inclusions | |
Possible: | Â | |
Both of the following: | ||
 • one clinical major criterion | ||
 • one radiological minor criterion |