Table 3 Revised fragile X-associated tremor/ataxia syndrome (FXTAS) diagnostic criteria

Definite:

Radiological

One clinical major and one of the following:

Major

MRI white matter lesions in middle cerebellar peduncle

 • one radiological major criterion

Major

MRI white matter lesions in splenium of the corpus callosum

 • presence of intranuclear inclusion

Minor

MRI white matter lesions in cerebral white matter

Minor

Moderate to severe generalized atrophy

Clinical

Probable:

Major

Action tremor

One of the following:

Major

Cerebellar gait ataxia

 • two clinical major criteria

Minor

Parkinsonism

 • one radiological major criterion and one clinical minor criterion

Minor

Moderate to severe short-term memory deficiency

Minor

Executive function deficit

Minor

Neuropathy

Pathological

Major

Classic FXTAS CNS intranuclear inclusions

Possible:

Both of the following:

 • one clinical major criterion

 • one radiological minor criterion