Table 1

 Clinical and neuroradiological results

Cases 1 and 2Case 3“Typical” FXTAS*
*As reported in Jacquemont et al, 2003.
Clinical presentation
    Spastic paraparesis++–
    Cerebellar ataxia+++
    Intention tremor+–+
    Neuropathy+++
    Onset (age in years)305050–70
MRI findings: increased T2 signal intensity
    Middle cerebellar peduncles+++
    Cerebellar white matter+
    Subependymal and deep white matter of frontal and parietal lobes+++
    Medial lemniscus and corticospinal tract++–
    Cerebellar volume loss+++