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Related Experiment Videos

[Familial amyloid neuropathies]

J Julien1

  • 1Service de Neurologie, Hôpital du Haut-Levêque, CHU Bordeaux.

Revue Neurologique
|January 1, 1993
PubMed
Summary
This summary is machine-generated.

Familial amyloidotic polyneuropathies (FAP) are genetic disorders affecting nerves and organs. Advances in molecular biology now allow for the detection of gene carriers through genetic mutation identification.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Context:

  • Familial amyloidotic polyneuropathies (FAP) are rare, inherited disorders.
  • FAP presents with diverse clinical manifestations, including sensory-motor deficits, autonomic dysfunction, and organ-specific amyloid deposition.
  • Originally described in Portuguese populations, FAP is now recognized globally.

Purpose:

  • To review recent advances in understanding the molecular basis of FAP.
  • To highlight the genetic heterogeneity and clinical variability of FAP.
  • To discuss current and potential therapeutic strategies for FAP.

Summary:

  • FAP involves genetic mutations in genes such as transthyretin (TTR), apolipoprotein A1, and plasma gelsolin, leading to amyloid deposition.
  • Clinical features vary depending on the specific gene mutation and amyloid type, ranging from peripheral neuropathy to corneal dystrophy and renal failure.

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  • While no specific cure exists, liver transplantation is a potential treatment, and molecular diagnostics enable carrier detection.

    • Impact:

    • Improved understanding of FAP pathogenesis through molecular biology.
    • Identification of genetic markers for early diagnosis and carrier screening.
    • Potential for targeted therapies and improved patient management strategies.