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Hereditary transthyretin amyloidosis overview.
Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D. Manganelli F, et al. Neurol Sci. 2022 Dec;43(Suppl 2):595-604. doi: 10.1007/s10072-020-04889-2. Epub 2020 Nov 14. Neurol Sci. 2022. PMID: 33188616 Free PMC article. Review.
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations de …
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in t …
Cardiac Amyloidosis Treatment.
Stern LK, Patel J. Stern LK, et al. Methodist Debakey Cardiovasc J. 2022 Mar 14;18(2):59-72. doi: 10.14797/mdcvj.1050. eCollection 2022. Methodist Debakey Cardiovasc J. 2022. PMID: 35414852 Free PMC article. Review.
However, promising novel therapies on the horizon target various points in the ATTR-CA amyloidogenic cascade. These include transthyretin gene (TTR) silencing agents to prevent TTR formation, TTR tetramer stabilization and inhibition of oligomer aggregation to prevent fibr …
However, promising novel therapies on the horizon target various points in the ATTR-CA amyloidogenic cascade. These include transthyr …
Confirming the Diagnosis of Amyloidosis.
Wisniowski B, Wechalekar A. Wisniowski B, et al. Acta Haematol. 2020;143(4):312-321. doi: 10.1159/000508022. Epub 2020 Jun 16. Acta Haematol. 2020. PMID: 32544917 Free article. Review.
Most patients with amyloidosis will require biopsy of an involved organ or tissue to confirm the diagnosis. Cardiac transthyretin amyloidosis, however, may be diagnosed without a biopsy provided stringent criteria are met. ...Here we summarise the biopsy approach to …
Most patients with amyloidosis will require biopsy of an involved organ or tissue to confirm the diagnosis. Cardiac transthyretin …
Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment.
Siddiqi OK, Ruberg FL. Siddiqi OK, et al. Trends Cardiovasc Med. 2018 Jan;28(1):10-21. doi: 10.1016/j.tcm.2017.07.004. Epub 2017 Jul 13. Trends Cardiovasc Med. 2018. PMID: 28739313 Free PMC article. Review.
Treatment is aimed at relieving congestive symptoms and targeting the underlying amyloidogenic process. This includes anti-plasma cell therapy in AL amyloidosis, and stabilization of the TTR tetramer or inhibition of TTR protein production in ATTR amyloidosis. Cardiac tran …
Treatment is aimed at relieving congestive symptoms and targeting the underlying amyloidogenic process. This includes anti-plasma cel …
Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.
Adams D, Koike H, Slama M, Coelho T. Adams D, et al. Nat Rev Neurol. 2019 Jul;15(7):387-404. doi: 10.1038/s41582-019-0210-4. Epub 2019 Jun 17. Nat Rev Neurol. 2019. PMID: 31209302 Review.
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis with polyneuropathy (also known as familial amyloid polyneuropathy) is a condition with adult onset caused by mutation of transthyretin (TTR) and characterized by extracellular deposition of amyloid and destruction …
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis with polyneuropathy (also known as familial amyloid polyneuropathy) is a c …
Diagnostic Challenges and Solutions in Systemic Amyloidosis.
Goldis R, Kaplan B, Kukuy OL, Arad M, Magen H, Shavit-Stein E, Dori A, Livneh A. Goldis R, et al. Int J Mol Sci. 2023 Feb 28;24(5):4655. doi: 10.3390/ijms24054655. Int J Mol Sci. 2023. PMID: 36902083 Free PMC article. Review.
However, typing of amyloid protein is often challenging, especially in the two most common forms of amyloidosis, i.e., the immunoglobulin light chain amyloidosis and transthyretin amyloidosis. Diagnostic methodology is based on tissue examinations as well as on noni …
However, typing of amyloid protein is often challenging, especially in the two most common forms of amyloidosis, i.e., the immunoglobulin li …
Advances in the treatment of hereditary transthyretin amyloidosis: A review.
Gertz MA, Mauermann ML, Grogan M, Coelho T. Gertz MA, et al. Brain Behav. 2019 Sep;9(9):e01371. doi: 10.1002/brb3.1371. Epub 2019 Aug 1. Brain Behav. 2019. PMID: 31368669 Free PMC article. Review.
INTRODUCTION: Amyloid transthyretin amyloidosis (ATTR) is a progressive and often fatal disease caused by the buildup of mutated (hereditary ATTR [hATTR]; also known as ATTR variant [ATTRv]) or normal transthyretin (wild-type ATTR) throughout the body. ...RESULTS: U …
INTRODUCTION: Amyloid transthyretin amyloidosis (ATTR) is a progressive and often fatal disease caused by the buildup of mutat …
Hereditary transthyretin amyloidosis: current treatment.
Adams D, Slama M. Adams D, et al. Curr Opin Neurol. 2020 Oct;33(5):553-561. doi: 10.1097/WCO.0000000000000852. Curr Opin Neurol. 2020. PMID: 32796279 Review.
PURPOSE OF REVIEW: Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant, life-threatening disease. ...Primary endpoints were progression of neuropathic score mNIS +7 and quality of Life (QOL) in a population of ATTRv-PN at different levels of se …
PURPOSE OF REVIEW: Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant, life-threatening disease. ...Pri …
Liver transplantation in transthyretin amyloidosis: issues and challenges.
Carvalho A, Rocha A, Lobato L. Carvalho A, et al. Liver Transpl. 2015 Mar;21(3):282-92. doi: 10.1002/lt.24058. Epub 2015 Feb 2. Liver Transpl. 2015. PMID: 25482846 Free article. Review.
Hereditary transthyretin amyloidosis (ATTR) is a rare worldwide autosomal dominant disease caused by the systemic deposition of an amyloidogenic variant of transthyretin (TTR), which is usually derived from a single amino acid substitution in the TTR gene. .. …
Hereditary transthyretin amyloidosis (ATTR) is a rare worldwide autosomal dominant disease caused by the systemic deposition o …
Diagnosis and therapeutic approaches to transthyretin amyloidosis.
Ando Y, Ueda M. Ando Y, et al. Curr Med Chem. 2012;19(15):2312-23. doi: 10.2174/092986712800269317. Curr Med Chem. 2012. PMID: 22471980 Review.
Hereditary amyloidogenic transthyretin (TTR) (ATTR) amyloidosis is an autosomal dominant form of fatal hereditary amyloidosis. ...
Hereditary amyloidogenic transthyretin (TTR) (ATTR) amyloidosis is an autosomal dominant form of fatal hereditary amyloidosis. ...
32 results