This project proposes a multi-parametric set of MRI tools for assaying human inherited neuropathies in vivo, with the longer-term goal of establishing biomarkers of disease progression for future clinical trials. Previous research shows magnetization transfer ratio (MTR) values, which assay myelin content changes from demyelination and axonal loss, relate to disability in neuropathy patients. Here, we proposed additional fat-water (Dixon) imaging to assay fat replacement following deinnervation. MTR/Dixon data were collected in the sciatic/tibial nerves in patients with primary dysmyelinating inherited neuropathies. Longitudinal results showed lower that MTR/Dixon were responsive to disease progression.
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