Table 2. Current diagnostic criteria of FXTAS.
Molecular: FMR1 gray mutation, premutation or full mutation (Mandatory for all categories). | ||
Diagnostic | Definite | one major clinical + one major radiological or one major clinical + intranuclear inclusions (postmortem) |
Probable | two major clinical or one minor clinical + one major radiological | |
Possible | one major clinical + one minor radiological | |
Clinical | Major | intention tremor; cerebellar ataxia |
Minor | Parkinsonism; moderate to severe short term or executive function deficits; neuropathy | |
Radiological | Major | MCPs; MRI white matter lesions in splenium of the corpus callosum (or postmortem intranuclear inclusions) |
Minor | MRI lesions in the cerebral white matter; moderate to severe generalized atrophy |
MCPs; white matter lesions in middle cerebellar peduncle sign.