Muzar, Zukhrofi and Winarni, Tri Indah and Faradz, Sultana MH (2014) BRAIN VOLUME CHANGES AS PREDICTORS OF FXTAS PROGRESSION. Masters thesis, Universitas Diponegoro.

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Abstract

Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that has a pathological effect on the brain. Hypothesis of the study is that the neuronal dysregulation leading to neuronal loss and white matter hyperintensity (WMH) in FXTAS may cause brain volume changes, and may be used as a measure of disease progression in FXTAS.
Methods: Brain volume changes in FXTAS were analyzed longitudinally on two separate time points using SIENAX (http://fsl.fmrib.ox.ac.uk/fsl/fslwiki/SIENA). This study included 21 patients with FXTAS (mean age: 67.1y; SD = 6.2; 15 males and 6 females) with two MRI scans following initial diagnosis of FXTAS. The average interval between measurements was 2.2 years (SD = 1.2) with an interval range of 0.7-5 years. The patients were ascertained from families with and without a fragile X syndrome proband at the University of California at Davis Medical Center. Healthy control subjects (mean age: 70.9y SD = 6.7; 15 males
and 9 females) were matched by age and gender to patients with FXTAS at their time 2 measurements, but the controls were assessed only once.
Results: Both annualized WBV and VCSFV change are predictors of occurrence of higher FXTAS stage. PGMV, GMV, WBV and VCSFV in the FXTAS subjects at time 2 were statistically different from healthy controls. The mean rates of WBV and VCSFV change in individuals with FXTAS were -1.5%/year and 3.05%/year respectively. There were no correlations of annualized VCSFV
change and WBV change with both FMR1 CGG repeat size and FMR1 mRNA levels.
Conclusion: The results of our study revealed the importance of WBV and VCSFV measurements in the progression of FXTAS. Further study is needed to evaluate the rate of brain volume change with age in FXTAS and to investigate its benefit for making prognoses, monitoring disease progression, and determining
the effectiveness of therapeutic treatment of FXTAS.
Keywords: FXTAS, fragile X premutation, longitudinal MRI, brain volume, White Matter Volume, Grey Matter Volume, Ventricular Cerebrospinal Fluid Volume

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