We're Advancing SORD Neuropathy Research
Developed in collaboration with the Hereditary Neuropathy Foundation, this unique model underwent phenotypic characterization. Key disease-relevant findings include:
- Significantly elevated sorbitol levels in serum, CSF, and peripheral nerves
- Increased serum neurofilament light chain, indicating axonal degeneration
- Motor impairment beginning at ~7 months, with progressive decline
- Abnormal hindlimb gait, confirmed via video-based motion tracking
- Reduced tibial motor nerve conduction velocity
- Peripheral nerve histopathology, including axonal degeneration, remyelination, and distinctive ballooned myelin sheaths, primarily affecting motor axons
The researchers found that this motor-predominant phenotype aligns closely with the human condition, providing an essential tool for exploring disease mechanisms and evaluating therapeutic candidates.
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