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. Author manuscript; available in PMC: 2010 Dec 1.
Published in final edited form as: J Investig Med. 2009 Dec;57(8):830–836. doi: 10.231/JIM.0b013e3181af59c4

Table 4. FXTAS diagnostic criteria in FMR1 premutation carriers(8).

Diagnostic Categories
Definite: Presence of one major radiological sign plus one major clinical symptom
Probable: Presence of either one major radiological sign plus one minor clinical symptom or has the two major clinical symptoms
Possible: Presence of one minor radiological sign plus one major clinical symptom
Symptom Types
Radiological
Major MRI white matter lesions in MCPs and or brain stem
Minor MRI white matter lesions in cerebral white matter
Minor Moderate to severe generalized atrophy
Clinical
Major Intention tremor
Major Gait ataxia
Minor Parkinsonism
Minor Moderate to severe short-term memory deficiency
Minor Executive function deficit

MCP = middle cerebellar peduncle