Fragile X–tremor/ataxia syndrome: five areas of new development

Abstract

Fragile X–tremor/ataxia syndrome is a relatively newly discovered movement disorder usually affecting patients over the age of 50 who have a FMR1 gene with 55–200 CGG repeats. Patients present with tremor and ataxia and possibly executive dysfunction and peripheral neuropathy. Fragile X–tremor/ataxia syndrome patients have several unique MRI findings including white matter lesions of the middle cerebellar peduncle and splenium of the corpus callosum. The genetics and treatment of this condition are co-developing rapidly as we search for more therapeutic modalities to offer these patients. We will present the latest information available regarding this fascinating syndrome and provide our hypothesis regarding the future focus of research.