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Peripheral nerve amyloidosis

M M Reilly1, H Staunton

  • 1National Hospital for Neurology and Neurosurgery, London, U.K.

Brain Pathology (Zurich, Switzerland)
|April 1, 1996
PubMed
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Familial amyloid polyneuropathy (FAP) involves peripheral nerve amyloidosis, often linked to transthyretin (TTR) gene mutations. Understanding these mutations offers insights into amyloidogenesis mechanisms and disease progression.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Peripheral nerve amyloidosis is a key feature of familial amyloid polyneuropathy (FAP), also present in primary light chain (AL) and dialysis-related amyloidosis.
  • All forms of peripheral nerve amyloidosis manifest as severe, progressive mixed neuropathy with autonomic dysfunction.
  • Pathologically, amyloid deposits appear as extracellular, amorphous, eosinophilic material within the peripheral nervous system.

Purpose of the Study:

  • To review the clinical and pathological characteristics of peripheral nerve amyloidosis.
  • To discuss current theories of amyloidogenesis, particularly those related to FAP.
  • To highlight the role of transthyretin (TTR) gene mutations in FAP.

Main Methods:

  • Review of clinical and pathological features of peripheral nerve amyloidosis.

Related Experiment Videos

  • Analysis of studies focusing on transthyretin (TTR) gene mutations in FAP.
  • Discussion of amyloidogenesis mechanisms.

    • Main Results:

    • Familial amyloid polyneuropathy (FAP) is commonly associated with variant plasma transthyretin (TTR), with over 36 identified point mutations.
    • Amyloid deposits in the peripheral nervous system are extracellular, amorphous, and eosinophilic.
    • Individual TTR gene mutations are increasingly studied to understand amyloidosis mechanisms.

    Conclusions:

    • Peripheral nerve amyloidosis, especially FAP, is linked to TTR gene mutations, with ongoing discovery of new variants.
    • Understanding TTR mutations provides crucial insights into the pathogenesis of amyloidosis.
    • This review synthesizes clinical, pathological, and genetic findings in peripheral nerve amyloidosis.