Article
[Familial amyloidotic polyneuropathies].
Bulletin de l'Academie nationale de medecine - 1 Oct 2012
Vallat Jean-Michel, Funalot Benoît, Faugeras Frédéric, Magy Laurent
Abstract excerpt
Transthyretin familial amyloid polyneuropathy (TTRFAP) is an autosomal dominant neuropathy that is fatal within about 10 years after symptom onset. TTRFAP is observed worldwide, albeit with a higher frequency of the most common variant, Val30met, in Portugal, Sweden and Japan. Various phenotypic differences are observed. TTRFAP should be considered in patients with a progressive axonal polyneuropathy of unknown...
Topics
- Adult
- Age of Onset
- Americas
- Amyloid
- Amyloid Neuropathies, Familial
- Apolipoprotein A-I
- Biopsy
- Electromyography
- Europe
- Gelsolin
- Genes, Dominant
- Genetic Heterogeneity
- Humans
- Japan
- Microscopy, Electron
- Mutation
- Peripheral Nerves
- Prealbumin