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. 2020 Jun 20;21(12):4391. doi: 10.3390/ijms21124391

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.