SPTAN1 mutations in hereditary motor neuropathy.


  • Inherited SPTAN1 nonsense mutations and partial loss of alpha-II-spectrin is a causal mechanism for the axonal degeneration in hereditary motor neuropathy (HMN).

Why this matters

  • The complexity of the multifaceted genetics implicated in HMN is not fully understood; further investigation is required to understand the underlying mechanisms linking different genetic mutations with phenotypic variability.

Want to read more?

Log in or sign up to access all Neurodiem content.

Already have an account? Log In

International Medical Press is a global provider of independent medical education. Its mission is to provide healthcare professionals with high-quality, trusted medical information with the aim of helping optimize patient care.

No responsibility is assumed by International Medical Press for any injury and/or damage to persons or property through negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, International Medical Press recommends that independent verification of diagnoses and drug dosages should be made. The opinions expressed do not reflect those of International Medical Press or the sponsor. International Medical Press assumes no liability for any material contained herein.