Table 1.

Major and minor radiological, clinical, and neuropathological signs of FXTAS. The molecular criteria include an FMR1 premutation. Adapted from Berry-Kravis et al 2007 and Hall et al 2014 (86, 127)

	Major (Signs/Symptoms)	Minor (Signs/Symptoms)
Radiological	Radiological sign: T2 FLAIR MRI Middle Cerebellar Peduncle (MCP)	Radiological sign: T2 FLAIR MRI white matter lesions in cerebral white matter Radiological sign: T2 FLAIR MRI Moderate-to-severe generalized brain atrophy Radiological sign: T2 FLAIR MRI white matter hyperintensity in Splenium of Corpus Callosum (CCS)
Clinical Signs	Intention tremor Cerebellar ataxia	Parkinsonism (bradykinesia, shuffling gait, masked facies) Neuropathy Executive function and memory deficits
Neuropathological signs	Intranuclear inclusions in CNS and PNS