好色先生

好色先生

Explore the latest content from across our publications
Join The AAN

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

Responsivity of the Fragile X-Associated Tremor Ataxia Syndrome Rating Scale
Movement Disorders
P05 - (-)
034
BACKGROUND: FXTAS is a progressive neurodegenerative disorder characterized by tremor, gait ataxia, and cognitive decline. Validated outcome measures are needed in order to conduct clinical trials to aid the development of therapy for motor and non-motor features, as there are no known treatments for the disease. The FXTAS Rating Scale was designed to measure the motor features in FXTAS, but longitudinal change of the scale has not been evaluated.
DESIGN/METHODS: We retrospectively collected FXTAS rating scale scores that were completed on subjects between 2001 and 2012. Subjects were premutation carriers of the fragile X mental retardation 1 gene. We assessed the mean change in the rating scale between baseline and follow up using general linear modeling. Change in FXTAS rating scale score was regressed against time, and a summary change score over time was calculated.
RESULTS: We identified 67 subjects at baseline and 25 subjects at follow up. Subjects were 64% male, with mean age 68.6 +8.59 years and mean number of CGG repeats of 86.9. Mean follow up time was 38.5 months +41.5 months. The mean change in score from baseline to follow up was + 4.32 points (SD=13.46). This was calculated to be an average monthly change of +0.213 points and an average yearly change of +2.55 points (95% CI was -12.44 to +17.53).
CONCLUSIONS: The FXTAS rating scale scores increased from baseline to follow up at approximately two years by 4.32 points, which is consistent with the progressive natural history of FXTAS. Future studies that incorporate a standardized follow up interval and a larger sample size would help to better define the rate of change. Addressing the amount of change that would be considered clinically significant will also be essential in planning clinical trials.
Authors/Disclosures
Tomi L. Ashaye, MD (UT Houston)
PRESENTER 		No disclosure on file
Glenn T. Stebbins, PhD (Rush University Medical Center) Dr. Stebbins has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biogen. Dr. Stebbins has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Partners Healthcare System. Dr. Stebbins has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for CHDI. The institution of Dr. Stebbins has received research support from Department of Defense. Dr. Stebbins has received research support from Cleveland Clinic Health Systems. Dr. Stebbins has received personal compensation in the range of $500-$4,999 for serving as a Course Director with MDS.
Elizabeth M. Berry-Kravis, MD, PhD (Rush University Medical Center) The institution of Dr. Berry-Kravis has received research support from NIH. The institution of Dr. Berry-Kravis has received research support from Ionis. The institution of Dr. Berry-Kravis has received research support from Zynerba. The institution of Dr. Berry-Kravis has received research support from Roche. The institution of Dr. Berry-Kravis has received research support from CDC. The institution of Dr. Berry-Kravis has received research support from FRAXA Research Foundation. The institution of Dr. Berry-Kravis has received research support from GeneTx. The institution of Dr. Berry-Kravis has received research support from Angelman Syndrome Foundation. The institution of Dr. Berry-Kravis has received research support from Acadia. The institution of Dr. Berry-Kravis has received research support from Ultragenyx. The institution of Dr. Berry-Kravis has received research support from Mallinckrodt. The institution of Dr. Berry-Kravis has received research support from Together Strong Foundation. The institution of Dr. Berry-Kravis has received research support from Zevra. The institution of Dr. Berry-Kravis has received research support from Taysha. The institution of Dr. Berry-Kravis has received research support from Tetra. The institution of Dr. Berry-Kravis has received research support from Neuren.
Christopher Goetz, MD, FAAN (Rush University Medical Center) The institution of Dr. Goetz has received research support from Michael J. Fox Foundation. The institution of Dr. Goetz has received research support from NIH. The institution of Dr. Goetz has received research support from Department of Defense. Dr. Goetz has received publishing royalties from a publication relating to health care. Dr. Goetz has received publishing royalties from a publication relating to health care. Dr. Goetz has received publishing royalties from a publication relating to health care.
No disclosure on file
Deborah H. Hall, MD, PhD, FAAN (Rush University) Dr. Hall has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for 好色先生. Dr. Hall has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier - Parkinsonism and Related Disorders. Dr. Hall has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Annals of Neurology. The institution of Dr. Hall has received research support from Parkinson's Foundation. The institution of Dr. Hall has received research support from CHDI. The institution of Dr. Hall has received research support from Uniqure. The institution of Dr. Hall has received research support from NIH.
John W. Rose, MD, FAAN (Imaging and Neurosciences Center) The institution of Dr. Rose has received research support from National Multiple Sclerosis Society. The institution of Dr. Rose has received research support from Guthy Jackson Charitable Foundation. The institution of Dr. Rose has received research support from NIH . The institution of Dr. Rose has received research support from VA. The institution of Dr. Rose has received research support from Biogen. The institution of Dr. Rose has received research support from Friends of MS. Dr. Rose has received intellectual property interests from a discovery or technology relating to health care.