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Hereditary motor neuropathies.

Marina Frasquet1,2, Teresa Sevilla3,4,2,5

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Distal hereditary motor neuropathies (dHMN) are complex neurological disorders. Recent advances in gene discovery, like SORD and VWA1, improve diagnosis, but many cases remain undiagnosed, necessitating further research.

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Distal hereditary motor neuropathies (dHMN) encompass a diverse group of disorders.
  • Characterized by length-dependent axonal degeneration of lower motor neurons.

Purpose of the Study:

  • Provide an overview of dHMN.
  • Correlate clinical subtypes with causative genes.
  • Highlight recent advances in dHMN research.

Main Methods:

  • Review of current literature on dHMN.
  • Analysis of genetic findings, including new-generation sequencing (NGS).
  • Examination of cell and animal models for therapeutic targets.

Main Results:

  • Despite NGS, only one-third of dHMN patients receive a molecular diagnosis.
  • New genes, SORD and VWA1, implicated in dHMN.
  • SORD mutations are a frequent cause of autosomal recessive dHMN.
  • Pharmacological compounds targeting axonal transport and metabolic pathways are under investigation.

Conclusions:

  • dHMN diagnosis remains challenging despite advanced sequencing techniques.
  • International collaboration is crucial for discovering new genes and mechanisms.
  • Genetic diagnosis and understanding pathomechanisms are vital for developing clinical trials.