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

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