Familial amyloidotic polyneuropathy

Alzheimer s Disease Spongiform encephalopathies Primary systemic amyloidosis Secondary systemic amyloidosis Familial amyloidotic polyneuropathy I Senile systemic amyloidosis Hereditary cerebral amyloid angiopathy Haemodialysis-related amyloidosis Familial amyloidotic polyneuropahy II Finnish hereditary amyloidosis Type n diabetes... 

Most TTR variants are associated with extracellular deposition of amyloid fibrils in various tissue. These autosomal dominant hereditary amyloidoses include amyloidotic cardiomyopathy, familial amyloidotic polyneuropathy, and senile systemic amyloidosis. There is phenotypic variability (e.g., variable age of onset), suggesting that other factors may influence pathogenesis of the diseases. 

The majority of subjects carrying this mutation had no clinical abnormalities, but the mutation was found to be associated with increased occurrence of familial amyloidotic polyneuropathy type 1 [120] and increased levels of cholesterol and serum triglycerides [121]. 

Ando Y, Nakamura M, Araki S (2005) Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 62 1057-1062... 

Matsunaga N, Anan I, Forsgren S, Nagai R, Rosenberg R Horiuchi S, Ando Y, Suhr OB (2002) Advanced glycation end products (AGE) and the receptor for AGE are present in gastrointestinal tract of familial amyloidotic polyneuropathy patients but do not induce NF-kappaB activation. Acta Neuropathol (Berl)... 

Ueda, M., Y. Misumi, M. Mizuguchi, M. Nakamura, T. Yamashita, Y. Sekijima, K. Ota, S. Shinriki, H. Jono, S. I. Dceda, O. B. Suhr, and Y. Ando. 2009. SELDI-TOF Mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. Clin. Chem. 

Sousa A, Coelho T, Barros J, et al. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995 60(6) 512-521. 

Alves IL, Altland K, Almeida MR, et al. Screening and biochemical characterization of transthyretin variants in the Portuguese population. Hum Mutat 1997 9(3) 226-233. Sousa A, Andersson R, Drugge U, et al. Familial amyloidotic polyneuropathy in Sweden geographical distribution, age of onset, and prevalence. Hum Hered 1993 43(5) 288-294. 

Amyloidotic polyneuropathy familial amyloid Transthyretin Systemic... 

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