title: New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.
abstract: OBJECTIVE
  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 fragile X mental retardation 1 (FMR1) gene. This paper describes a series of patients who meet the definition of FXTAS who presented for care between 2009 and 2014.
  
  
  RESULTS
  Retrospective chart review of patients seen in the FXTAS clinic at Rush University in Chicago.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurological Sciences, Rush University Chicago, IL, USA.
authors.forename: Avram
authors.initials: A
authors.lastname: Fraint
authors.affiliation: Department of Neurological Sciences, Rush University Chicago, IL, USA.
authors.forename: Padmaja
authors.initials: P
authors.lastname: Vittal
authors.affiliation: Department of Neurological Sciences, Rush University Chicago, IL, USA.
authors.forename: Aimee
authors.initials: A
authors.lastname: Szewka
authors.affiliation: Department of Neurological Sciences, Rush University Chicago, IL, USA.
authors.forename: Bryan
authors.initials: B
authors.lastname: Bernard
authors.affiliation: Department of Pediatrics, Neurological Sciences and Biochemistry, Rush University Chicago, IL, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Berry-Kravis
authors.affiliation: Department of Neurological Sciences, Rush University Chicago, IL, USA.
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Hall
keywords: CGG; FMR1; FXS; FXTAS; premutation