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April 1, 2026Journal of the Peripheral Nervous System0 citationsOpen Access

Biallelic Nonsense Variants in NEFL May Cause a Non‐Length‐Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies

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MGMarcel Vieira GomesPTPedro José TomaselliWJW M J Wilson Marques Junior

Key Points

  • The research focuses on the impact of recessive nonsense variants in the NEFL gene on neuropathy characteristics.
  • Analyzed nerve conduction studies to assess neuropathy characteristics.
  • Identified biallelic nonsense variants in the NEFL gene.
  • Evaluated clinical symptoms including sensory and motor involvement.
  • Detectable facial involvement was observed in neuropathy cases.
  • Temporal dispersion was noted on nerve conduction studies.
  • Neuropathy exhibited non-length-dependent patterns, mimicking inflammatory demyelinating neuropathies.

Abstract

This study suggests that recessive nonsense variants in NEFL may cause a non-length-dependent sensory and motor neuropathy with facial involvement and temporal dispersion on nerve conduction studies, mimicking an acquired inflammatory demyelinating neuropathy.

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Cite This Study

Gomes et al. (2026) studied this question.

synapsesocial.com/papers/69ccb62016edfba7beb87d0ahttps://doi.org/10.1111/jns.70119
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