Article Text

other Versions

PDF
Detection of Early FXTAS Motor Symptoms Using the CATSYS Computerized Neuromotor Test Battery
  1. Emily G. Allen (egraves{at}genetics.emory.edu)
  1. Emory University, United States
    1. Jorge Juncos (j2synapse{at}aol.com)
    1. Emory University, United States
      1. Richard Letz (rletz{at}sph.emory.edu)
      1. Emory University, United States
        1. Michele Rusin (mrusin{at}att.net)
        1. Emory University, United States
          1. Debra Hamilton (dhamilton{at}genetics.emory.edu)
          1. Emory University, United States
            1. Gloria Novak (gnovak{at}genetics.emory.edu)
            1. Emory University, United States
              1. Lisa Shubeck (lshubeck{at}genetics.emory.edu)
              1. Emory University, United States
                1. Stuart W. Tinker (stuart{at}genetics.emory.edu)
                1. Emory University, United States
                  1. Stephanie Sherman (ssherman{at}genetics.emory.edu)
                  1. Emory University, United States

                    Abstract

                    Carriers of the FMR1 premutation allele are at a significantly increased risk for a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). This disorder is distinct from fragile X syndrome (FXS) with respect to the molecular etiology and clinical presentation. The primary features of FXTAS are late-onset intention tremor and gait ataxia. Associated features include parkinsonism, neuropsychological dysfunction, autonomic dysfunction and peripheral neuropathy. Our primary goal in this work was to investigate the usefulness of a quantitative neurological test battery implemented through the CATSYS instrumentation to identify pre-clinical symptoms of FXTAS. We have tested both premutation carriers with 70-199 repeats (N=62 males) and their low-repeat allele carrier siblings (N=27 males) identified through families with an individual affected with FXS. As expected, due to the sensitivity of the instrument, we were able to identify tremor in 23% of men who had not self-reported tremor, and ataxia in 30% of men who had not endorsed ataxia. Among subjects who self-reported tremor and ataxia, we found significant concordance between measures of the CATSYS system and self-report. Comparison of rates of these traits among premutation carriers and low-repeat allele carrier siblings are presented along with the minimum estimates of age-related prevalence.

                    • Ataxia
                    • FMR1
                    • Fragile X syndrome
                    • Premutation
                    • Tremor

                    Statistics from Altmetric.com

                    Request permissions

                    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.