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Neurological update: hereditary neuropathies.

Caroline Kramarz1, Alexander M Rossor2

  • 1Department of Neuromuscular Disease, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, WC1N 3BG, UK.

Journal of Neurology
|May 21, 2022
PubMed
Summary
This summary is machine-generated.

Hereditary motor neuropathies, including Charcot-Marie-Tooth disease type 2 (CMT2), are often caused by autosomal recessive variants in sorbitol dehydrogenase. Recent advances show promise for treating hereditary neuropathies with gene-based therapies.

Keywords:
ATTR amyloidosisCharcot–Marie–tooth diseasePMP22 gene silencingSORD-associated CMTSPTLC1-associated HSN1

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Hereditary neuropathies encompass a group of disorders affecting peripheral nerves.
  • Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy.
  • Identifying genetic causes is crucial for developing targeted therapies.

Purpose of the Study:

  • To review the discovery of sorbitol dehydrogenase (SORD) variants as a cause of hereditary motor neuropathy.
  • To discuss recent therapeutic advancements for hereditary neuropathies.
  • To highlight novel treatment strategies for CMT and amyloidosis.

Main Methods:

  • Literature review of recent research on SORD variants and hereditary neuropathies.
  • Analysis of emerging therapeutic approaches, including antisense oligonucleotides and gene editing.
  • Synthesis of findings on genetic causes and treatment efficacy.

Main Results:

  • Autosomal recessive SORD variants are identified as a frequent cause of hereditary motor neuropathy and CMT2.
  • Lipid nanoparticle-sequestered antisense oligonucleotides show potential for treating CMT1A.
  • Lipid nanoparticle-delivered CRISPR-Cas9 gene editing is being explored for ATTR amyloidosis.

Conclusions:

  • SORD deficiency represents a significant and treatable genetic cause of hereditary motor neuropathy.
  • Gene-silencing and gene-editing technologies offer new therapeutic avenues for debilitating hereditary neuropathies.
  • Continued research into genetic mechanisms and innovative therapies is vital for managing these conditions.