Table 1.
Diagnostic criteria and categories for FXTAS. Adapted from Hall et al. 2014 [155].
| Diagnostic Criteria | ||
|---|---|---|
| Molecular | Required | FMR1 Mutation * |
| Clinical | Major | Intention tremor |
| Cerebellar gait ataxia | ||
| Minor | Parkinsonism | |
| Neuropathy | ||
| Memory and executive function deficits | ||
| Neuroradiological | Major | White matter lesions in the middle cerebellar peduncles (MCP sign) or brainstem |
| Minor | White matter lesions in the splenium of the corpus callosum | |
| Cerebral white matter lesions | ||
| Moderate–severe brain atrophy | ||
| Neuropathological | Major | Ubiquitin-positive intranuclear inclusions |
| Diagnostic categories | ||
| Definite | 1 clinical major AND 1 neuroradiological major OR 1 neuropathological major |
|
| Probable | 2 clinical major OR 1 clinical minor + 1 radiological minor |
|
| Possible | 1 clinical major + 1 clinical minor | |
* FMR1 mutation includes premutation, gray zone and FM with mosaicism.