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[Amyloid neuropathy].

¹First Department of Internal Medicine, Kumamoto University Medical School.

Rinsho Shinkeigaku = Clinical Neurology

|December 1, 1990

Summary

This summary is machine-generated.

Familial amyloidotic polyneuropathy (FAP) causes severe nerve damage due to transthyretin (TTR) amyloid deposition. Understanding FAP pathogenesis is crucial for developing effective treatments for this rare genetic disorder.

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Area of Science:

Neurology
Genetics
Pathology

Context:

Familial amyloidotic polyneuropathy (FAP) is a severe, autosomal dominant systemic amyloidosis.
It primarily affects peripheral nerves, causing sensory and autonomic dysfunction.
Transthyretin (TTR) amyloid deposition is a hallmark of FAP.

Purpose:

To describe the pathological features of FAP neuropathy.
To investigate the role of variant TTR in amyloid deposition.
To explore potential mechanisms underlying nerve damage in FAP.

Summary:

FAP neuropathy involves amyloid deposition in peripheral nerves, particularly the sural and sciatic nerves, dorsal root ganglia, and sympathetic ganglia.
Small myelinated fibers decrease, and unmyelinated axons are depleted, with amyloid fibrils surrounding small vessels.

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The amyloid fibril protein is a variant transthyretin (TTR) with specific amino acid substitutions.

Impact:

This research highlights the significant impact of TTR amyloidosis on peripheral nerve structure and function.
It underscores the need for further investigation into the pathogenesis of FAP neuropathy.
Understanding these mechanisms is vital for developing targeted therapies for FAP and related amyloid neuropathies.