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Transthyretin-Related Familial Amyloidotic Polyneuropathy
Abstract
Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was thought to be restricted to endemic occurrence in certain areas. However, 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 double mutations, or a deletion in the transthyretin gene, have been published, and several different phenotypes of FAP have been documented, even for the same mutation in the transthyretin gene. We present herein the current clinicopathological, biochemical, molecular genetic, and epidemiological aspects of transthyretin-related FAP, and we introduce a new diagnostic procedure for the disease.
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Citations
Cited by
Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy
Coelho, T., Maia, L. F., da Silva, A. M., Cruz, M. W., Planté-Bordeneuve, V., Suhr, O. B., Conceiçao, I., Schmidt, H. H.-J., Trigo, P., Kelly, J. W., et al. (2013) · Journal of Neurology · doi:10.1007/s00415-013-7051-7 · Cited by 344
Coelho, T., Maurer, M. S., & Suhr, O. B. (2013) · Current Medical Research and Opinion · doi:10.1185/03007995.2012.754348 · Cited by 339
Patisiran, an RNAi Therapeutic for the Treatment of Hereditary Transthyretin-Mediated Amyloidosis
Kristen, A. V., Ajroud-Driss, S., Conceição, I., Gorevic, P., Kyriakides, T., & Obici, L. (2019) · Neurodegenerative Disease Management · doi:10.2217/nmt-2018-0033 · Cited by 268
A molecular mechanism for transthyretin amyloidogenesis
Yee, A. W., Aldeghi, M., Blakeley, M. P., Ostermann, A., Mas, P. J., Moulin, M., de Sanctis, D., Bowler, M. W., Mueller-Dieckmann, C., Mitchell, E. P., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-08609-z · Cited by 139
Stein, D., Kars, M. E., Wu, Y., Bayrak, Ç. S., Stenson, P. D., Cooper, D. N., Schlessinger, A., & Itan, Y. (2023) · Genome Medicine · doi:10.1186/s13073-023-01261-9 · Cited by 53
Metadata
- Authors
- Ando, Y., Nakamura, M., & Araki, S.
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2005-07-01
- Volume
- 62
- Issue
- 7
- Pages
- 1057
- ISSN
- 0003-9942 (ISSN-L)
- OpenAlex
- W2147305697
- Cited by
- 416
- References
- 0
- FWCI
- 5.65
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Transthyretin-Related Familial Amyloidotic Polyneuropathy. https://app.cochat.ai/papers/10.1001/archneur.62.7.1057
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- Ando, Y., Nakamura, M., & Araki, S. (2005). Transthyretin-Related Familial Amyloidotic Polyneuropathy. Archives of Neurology. https://doi.org/10.1001/archneur.62.7.1057
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