Neural Regeneration Research ›› 2026, Vol. 21 ›› Issue (1): 312-313.doi: 10.4103/NRR.NRR-D-24-01080

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Shared mechanisms and pathological phenotypes underlying aminoacyl-tRNA synthetase-related neuropathies

Elena R. Rhymes, James N. Sleigh*   

  1. Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK (Rhymes ER, Sleigh JN) UK Dementia Research Institute, University College London, London, UK (Sleigh JN)
  • Online:2026-01-15 Published:2025-04-23
  • Contact: James N. Sleigh, DPhil, j.sleigh@ucl.ac.uk.
  • Supported by:
    We are grateful for funding from the Medical Research Council (MR/S006990/1, MR/Y010949/1), the Rosetrees Trust (M806), the UCL Neurogenetic Therapies Programme funded by The Sigrid Rausing Trust and the UCL Therapeutic Acceleration Support scheme supported by funding from MRC IAA 2021 UCL MR/X502984/1 (to JNS). James N. Sleigh is a named inventor on patent GB2303495.2 (patent applicant, UCL Business Ltd., status pending), which describes and protects AAVBDNF technology for treatment of CMT.

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Abstract: C h a r c o t- M a r i e - To o t h d i s e a s e ( C M T ) i s a heterogeneous group of inherited peripheral neuropathies; it is characterized by muscle weakness and wasting, as well as sensory dysfunction, that typically begins during adolescence and ultimately leads to lifelong disability. Occurring in ~1 in 2500 individuals, CMT is the most common hereditary neuromuscular condition and results from mutations in > 100 different genes. CMT is grouped into type 1 (CMT1), where demyelination and loss of nerve conduction velocity occur, type 2 (CMT2), where motor and sensory axons degenerate without loss of myelination/nerve conduction velocity, and intermediate CMT, where both demyelination and axon loss present alongside intermediate nerve conduction velocities.