Table 4. FXTAS diagnostic criteria in FMR1 premutation carriers(8).
Diagnostic Categories | |
---|---|
Definite: | Presence of one major radiological sign plus one major clinical symptom |
Probable: | Presence of either one major radiological sign plus one minor clinical symptom or has the two major clinical symptoms |
Possible: | Presence of one minor radiological sign plus one major clinical symptom |
Symptom Types | |
Radiological | |
Major | MRI white matter lesions in MCPs and or brain stem |
Minor | MRI white matter lesions in cerebral white matter |
Minor | Moderate to severe generalized atrophy |
Clinical | |
Major | Intention tremor |
Major | Gait ataxia |
Minor | Parkinsonism |
Minor | Moderate to severe short-term memory deficiency |
Minor | Executive function deficit |
MCP = middle cerebellar peduncle