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Distal hereditary motor neuropathies.

Meriem Tazir1, Sonia Nouioua2

  • 1Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria; Neurosciences Laboratory, University Benyoucef Benkhedda, Algiers, Algeria.

Revue Neurologique
|May 3, 2024
PubMed
Summary

Distal hereditary motor neuropathies (dHMN) are rare genetic disorders affecting motor nerves. Identifying specific genes like HSPB1 and GARS aids diagnosis and understanding overlaps with other conditions.

Keywords:
Brown Vialetto Van Laere syndromeCharcot-Marie-Tooth type 2 (CMT2)Distal hereditary motor neuropathy (dHMN)Hereditary spastic paraplegiaJuvenile amyotrophic lateral sclerosis

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous hereditary disorders.
  • Characterized by slowly progressive distal pure motor neuropathy.
  • Electrophysiology findings can suggest dHMN and guide genetic studies.

Purpose of the Study:

  • To summarize current knowledge on genetic factors in dHMN.
  • To highlight genotypic overlaps with other neurogenetic disorders.
  • To emphasize the importance of differential diagnosis for potential therapeutic interventions.

Main Methods:

  • Review of recent cohort studies identifying frequent dHMN genes.
  • Analysis of genotypic overlaps between dHMN and other hereditary neuropathies.
  • Discussion of differential diagnoses including juvenile ALS and Brown Vialetto Van Laere syndrome.

Main Results:

  • Over thirty genes are associated with HMNs, with 60-70% of dHMN cases remaining genetically uncharacterized.
  • HSPB1, GARS, BICB2, and DNAJB2 are frequent dHMN genes.
  • Genotypic overlaps exist with CMT2, juvenile ALS, and hereditary spastic paraplegia.

Conclusions:

  • Genetic characterization of dHMN is crucial for diagnosis and understanding disease mechanisms.
  • Specific genes are linked to distinct phenotypes, such as upper limb predominance or vocal cord palsy.
  • Considering treatable conditions like riboflavin transporter deficiency is vital for patient management.