Fragile X Tremor-Ataxia Syndrome
A man who developed bilateral hand tremor at age 67, short-term memory impairment at age 70, and started falling because of poor balance at age 71. Examination revealed mild parkinsonian features and peripheral neuropathy. The patient was found to have 92 CGG repeats in the FMR1 gene, diagnostic of fragile X tremor-ataxia syndrome. Brain MRI showed hyperintensity in the middle cerebellar peduncle and the corpus callosum.
Fredy J. Revilla, MD
CONTINUUM: Lifelong Learning in Neurology. 19(5, Movement Disorders):1312-1343, October 2013