Transthyretin-related familial amyloidotic polyneuropathy—Progress in Kumamoto, Japan (1967–2010)

The authors reviewed contribution of Kumamoto University group to the progress of the studies on transthyretin (TTR)-related familial amyloidotic polyneuropathy (TTR-related FAP) for 42 years (from 1967 to 2009). Andrade (1952) first described a large group of patients with FAP in Portugal and Araki...

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Published in:Proceedings of the Japan Academy, Series B Series B, 2010/07/21, Vol.86(7), pp.694-706
Main Authors: ARAKI, Shukuro, ANDO, Yukio
Format: Article
Language:English
Subjects:
Amyloid Neuropathies, Familial - epidemiology
Amyloid Neuropathies, Familial - genetics
Amyloid Neuropathies, Familial - physiopathology
Amyloid Neuropathies, Familial - therapy
Cities
clinicopathology
diagnostic tests
epidemiology
Humans
Japan
Liver Transplantation
molecular genetics
Prealbumin - chemistry
Prealbumin - genetics
Prealbumin - metabolism
Prognosis
Review
transthyretin-related familial amyloidotic polyneuropathy (TTR-related FAP)
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Summary:The authors reviewed contribution of Kumamoto University group to the progress of the studies on transthyretin (TTR)-related familial amyloidotic polyneuropathy (TTR-related FAP) for 42 years (from 1967 to 2009). Andrade (1952) first described a large group of patients with FAP in Portugal and Araki et al. (1967) in second discovered similar FAP patients in Arao, Kumamoto, Japan. Owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or two mutations, or a deletion in the transthyretin (TTR) gene, have been published. The authors’ group has made pioneer works for study of FAP in the world. The focus on therapy in amylodosis will increase sharply as an impetus in near future, and successful treatments are expected. (Communicated by Kumao TOYOSHIMA, M.J.A.)
ISSN:0386-2208
1349-2896
1349-2896
DOI:10.2183/pjab.86.694