FXTAS: A Moving Target for Clinicians

New data from 22 patients add to the clinical spectrum of this syndrome.

Fragile X–associated tremor ataxia syndrome (FXTAS) typically is accompanied by an FMR1 premutation, ataxia, tremor, and middle cerebellar peduncle (MCP) hyperintensities on magnetic resonance imaging (MRI). To better define the syndrome, investigators examined clinical, imaging, and physiologic features of FXTAS in 22 patients from nine centers.

There was no family history of fragile X syndrome in 43% of the patients. More than 80% had tremor, and 81% had neuropathy. Among 17 patients tested, the authors identified three tremor subtypes: essential-like (35%), cerebellar (29%), and parkinsonian (12%) tremor. Splenial corpus callosum were common (68%) and appeared to correlate with disease progression. More than half the patients (64%) had pa…

Reviewing Author

Michael S. Okun, MD

Disclosures

Consultant/Advisory BoardParkinson’s Foundation; Tourette Association of America

Speaker’s BureauMedscape/WebMD CME, Movement Disorders Society CME, American Academy of Neurology CME

RoyaltiesBooks4Patients; Demos; Cambridge; Taylor and Francis; Robert Rose; Public Affairs

Grant/Research SupportNational Institutes of Health; Parkinson’s Foundation; Tourette Association of America; University of Florida Foundation

Editorial BoardsTremor and Other Hyperkinetic Movements; JAMA Neurology

Leadership Positions in Professional SocietiesParkinson’s Foundation (Medical Advisor)