Abstract #2033

White Matter Damage and Myelin Loss in Rare PolyG Diseases: A 3T MRI Pilot Study

Justin T Hsieh¹, Septian Hartono^2,3,4, Ling Ling Chan^2,5, Cornelia Laule^6,7,8,9, Adeline Su Lyn Ng⁴, Eng King Tan^2,4, Jayne Yi Tan⁴, and Tchoyoson CC Lim^1,2

¹Department of Neuroradiology, National Neuroscience Institute, Singapore, Singapore, ²Duke-NUS Medical School, Singapore, Singapore, ³Department of Diagnostic Radiology, Singapore General Hospital, Singapore, Singapore, ⁴Department of Neurology, National Neuroscience Institute, Singapore, Singapore, ⁵Department of Diagnostic Radiology, Singapore General Hospital, SINGAPORE, Singapore, ⁶Department of Radiology, University of British Columbia, Vancouver, BC, Canada, ⁷Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada, ⁸Department of Physics and Astronomy, University of British Columbia, Vancouver, BC, Canada, ⁹International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, BC, Canada

Synopsis

Keywords: White Matter, Diffusion/other diffusion imaging techniques, myelin, brain, myelin water imaging, diffusion

Motivation: Literature suggests that white matter (WM) may be specifically affected in polyG diseases, a novel class of genetic neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS) and neuronal intranuclear inclusion disease (NIID).

Goal(s): To use advanced MRI to characterize WM in polyG disease.

Approach: 3T myelin water imaging and diffusion tensor imaging in participants with FXTAS and NIID.

Results: FXTAS and NIID demonstrated diffuse cerebral WM damage and myelin loss. Middle cerebellar peduncle (MCP) changes were seen in FXTAS, but not in NIID. Diffusion hyperintense foci in the MCP (FXTAS) and frontal WM (FXTAS and NIID) matched foci of highest dysmyelination.

Impact: Fragile X-associated tremor/ataxia syndrome and neuronal intranuclear inclusion disease show diffuse cerebral white matter abnormalities and myelin damage, and spatially differential changes in the frontal white matter and middle cerebellar peduncle.

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