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Feasibility of a short but comprehensive MRI protocol for quantitative characterization of progressive neurodegeneration in Friedreich ataxia
Koene R.A. Van Dijk1, Courtney A. Bishop2, James O’Callaghan2, James A. Goodman1, Laigao Chen1, Peter T. Loudon3, Lawrence Charnas4, Eugenii A. Rabiner2, and Richard Festenstein5
1Digital Medicine and Translational Imaging, Early Clinical Development, Pfizer, Cambridge, MA, United States, 2Invicro, London, United Kingdom, 3Clinical Sciences, Early Clinical Development, Pfizer, Cambridge, United Kingdom, 4Rare Disease Research Unit, Pfizer, Cambridge, MA, United States, 5Department of Brain Sciences, Imperial Clinical Research Facility and BRC (NIHR), Imperial College London, London, United Kingdom
We found good quality data for the majority of sequences and patients in a scan session lasting less than 60 minutes and show sample imaging and spectroscopy data focusing on the dentate nucleus, a structure involved in planning, initiating, and modifying voluntary movements.
Figure 2. Sample dentate nucleus ROIs and contrast of mpMRI data at 3T. T1w: blue indicates the location of the participants’ left dentate nucleus; QSM: heatmap indicates estimated iron content in the left dentate nucleus mask as measured via R2* mapping (color scale shows rendering of values 5.0-40.0 s-1); DWI: dominant fiber orientation coded as follows: red=left-right, green=anterior-posterior, blue=superior-inferior. DD=disease duration. SARA=Scale for the Assessment and Rating of Ataxia.
Figure 3. Sample spectroscopy data. Green circles indicate the location of the Myo-inositol peak (3.5ppm) for FA patient #4 (left panel) and a healthy volunteer (HV; center panel). The white square shows the location of the MRS volume of interest placed over the right dentate nucleus (right panel).