Familial amyloid polyneuropathy has an autosomal dominant pattern of inheritance.
Specialty
Neurology
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade's disease,[1] is an autosomal dominant[2] neurodegenerative disease. It is a form of amyloidosis, and was first identified and described by Portuguese neurologist Mário Corino da Costa Andrade, in 1952.[3] FAP is distinct from senile systemic amyloidosis (SSA), which is not inherited, and which was determined to be the primary cause of death for 70% of supercentenarians who have been autopsied.[4] FAP can be ameliorated by liver transplantation.
^Online Mendelian Inheritance in Man (OMIM): Amyloidosis, hereditary, transthyretin-related - 105210
^Ando Y, Ueda M (May 2008). "Novel methods for detecting amyloidogenic proteins in transthyretin related amyloidosis". Frontiers in Bioscience. 13 (13): 5548–58. doi:10.2741/3098. PMID 18508604.
^Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves". Brain. 75 (3): 408–27. doi:10.1093/brain/75.3.408. PMID 12978172.
^Coles LS, Young RD (May 2012). "Supercentenarians and transthyretin amyloidosis: the next frontier of human life extension". Preventive Medicine. 54 Suppl (Suppl): S9–11. doi:10.1016/j.ypmed.2012.03.003. PMID 22579241.
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