Biallelic mutations in the SORD (sorbitol dehydrogenase) gene cause neuropathy that can present as a purely motor form (distal hereditary motor neuropathy, dHMN) or as axonal Charcot-Marie-Tooth disease with muscle and sensory involvement (CMT 2).
- An international publication analysed data from 144 patients with SORD-related neuropathy (two-thirds with CMT 2 and one-third with dHMN). It confirmed the existence of two common genetic mutations, while other variants were only identified in isolated cases. Fasting serum sorbitol measurement would be a reliable and useful biomarker for assessing the pathogenicity of rare variants of the SORD gene.
- A French team has described an unusual case: in addition to the classic symptoms, the patient showed signs of central nervous system involvement (Babinski reflex, MRI abnormalities, etc.), suggesting that the disease is more complex than expected.
- The Phase II/III trial of govorestat, a product developed by Applied Therapeutics, has shown encouraging results in terms of muscle damage progression, which may lead to a future large-scale Phase III trial.
Expanding the phenotype of SORD mutation. Pruvost R, Bruneel A, Dochez N et al. Brain. 2025 Jun
