Teaching Video NeuroImage: Tremor and Cerebellar Ataxia in a Patient With Fragile X-Associated Tremor/Ataxia Syndrome

A 63-year-old man presented with a 3-year history of tremors. Neurologic examination revealed a head tremor, a lower limb resting tremor, an irregular postural and intention tremor of the distal upper limbs, and cerebellar ataxia (Video 1). T2-weighted brain MRI showed typical bilateral symmetric hyperintensities in the middle cerebellar peduncles (Figure). Genetic testing demonstrated a premutation expansion (90 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene, confirming the diagnosis of fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is an X-linked, late-onset, progressive neurodegenerative disease.1 The characteristic MRI pattern should prompt confirmation of the diagnosis with genetic testing for FMR1 premutations (55–200 CGG repeats).1 Fragile X syndrome, associated with FMR1 full mutations (>200 CGG repeats), should be differentiated.1

Read article at journal's website

Related Articles


Your email address will not be published.