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[Current issues in hereditary neuropathies]

A Lacour1

  • 1Clinique neurologique et centre de référence des maladies rares neuromusculaires, hôpital Roger-Salengro, CHRU de Lille, rue Emile-Laine, 59037 Lille, France.

Revue Neurologique
|November 16, 2013
PubMed

Insights

This review covers recent findings in Charcot-Marie-Tooth disease (CMT) and transthyretin familial amyloid neuropathies (TTR-FAN). Studies highlight hearing issues in pediatric CMT and key features of CMT4C, alongside TTR-FAN registry data and treatment trials.

Area of Science:

  • Neurology
  • Genetics
  • Clinical Research

Context:

  • Recent advancements in understanding rare neurological disorders.
  • Focus on Charcot-Marie-Tooth disease (CMT) and transthyretin familial amyloid neuropathies (TTR-FAN).
  • Highlights studies published in 2012.

Purpose:

  • To review key findings from five studies in CMT and TTR-FAN.
  • To summarize research on pediatric CMT, CMT4C, and TTR-FAN registries and treatments.

Summary:

  • A pediatric study identified high prevalence of speech perception and hearing impairment in children with CMT1/CMT2.
  • Clinical and electrophysiological characteristics of 14 CMT4C patients revealed scoliosis, proximal weakness, and cranial nerve involvement.
  • Initial data from French and international TTR-FAN registries were reported, along with a Phase II trial for tauroursodeoxycholic acid and doxycycline treatment.

Impact:

  • Provides insights into the prevalence and clinical manifestations of specific CMT types.
  • Offers foundational data from TTR-FAN registries for future research.
  • Summarizes therapeutic trial outcomes for TTR-FAN, informing potential treatment strategies.

Keywords:
Amyloid familial neuropathiesAuditionCharcot-Marie-ToothNeuropathies amyloïdes familialesRegistresRegistries

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