Familial amyloid polyneuropathy (FAP) type I and the probands of “new” families: apropos of a clinical case
Keywords:
proband, sporadic case, new families, transthyretinAbstract
Familial amyloid polyneuropathy (FAP) type I is a progressive
autosomal-dominant neurodegenerative disorder characterized
by an extracellular amyloid fibrils deposit in the conjunctive tissue,
except in the brain and hepatic parenchyma affecting the peripheral nervous system in particular. FAP type I existence showed
to be related to valine aminoacid replacement by methionine in
position 30 of the transthyretin gene (TTR V30M). Sporadic cases
of FAP TTR V30M have been described in all of the foci of this
disease. Its existence raises some interesting questions especially
on the heredity form and the possibility of genetic modifiers.
The authors report a FAP TTR V30M case, whose relatives were
not affected by the disease, reviewing the genetic epidemiology
of such condition.
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