Article
Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.
Acta neurologica Belgica - 1 Jun 2018
Martens Broes, De Pauw Michel, De Bleecker Jan L
Abstract excerpt
Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, often part of a multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue. It is most frequently the result of a mutation in the TTR gene, most commonly a p.Val50Met mutation. TTR-FAP is a rare autosomal dominant heritable disabling, heterogeneous...
Topics
- Aged
- Amyloid Neuropathies, Familial
- Diagnosis, Differential
- Electromyography
- Humans
- Liver Transplantation
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mutation
- Prealbumin