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. 2014 Nov;3(4):101–109. doi: 10.5582/irdr.2014.01029

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.