AUTHOR=Fraint Avram , Vittal Padmaja , Szewka Aimee , Bernard Bryan , Berry-Kravis Elizabeth , Hall Deborah A. 

TITLE=New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype

JOURNAL=Frontiers in Genetics

VOLUME=5

YEAR=2014

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2014.00365

DOI=10.3389/fgene.2014.00365

ISSN=1664-8021

ABSTRACT=<p><bold>Purpose:</bold> Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline, and parkinsonism in individuals who carry between 55 and 200 CGG repeats in the promoter region of the <italic>fragile X mental retardation 1</italic> (<italic>FMR1</italic>) gene. This paper describes a series of patients who meet the definition of FXTAS who presented for care between 2009 and 2014.</p><p><bold>Methods/Results:</bold> Retrospective chart review of patients seen in the FXTAS clinic at Rush University in Chicago.</p><p><bold>Conclusions:</bold> Patients with FXTAS may present with a progressive supranuclear palsy-like phenotype and other eye movement abnormalities are common in these patients as well. Rapid worsening of gait abnormalities in FXTAS may be due to a secondary spinal issue and should be aggressively treated to regain function. Finally, the FXTAS Rating Scale score does not reliably inform the certainty of diagnosis or CGG repeat size in these patients.</p>