WebDec 1, 2016 · Transthyretin amyloidosis involves the deposition of transthyretin amyloid fibrils in the body. We report an unusual case of a young Afro-Caribbean woman harboring a Thr60Ala mutation who presented with clinical signs of heart failure and polyneuropathy confirmed with genetic testing and results of an abdominal fat pad biopsy. WebNational Center for Biotechnology Information

Hereditary ATTR amyloidosis: a single-institution experience

Webas in the patients with Val122Ile and Thr60Ala mutations • hATTR amyloidosis is a rapidly progressive, multisystem disease with a variable genotype–phenotype relationship – Recently, there has been increased evidence of a mixed phenotype with both cardiac and neuropathic features in patients across the range of known pathogenic TTR mutations WebSep 2, 2013 · Transthyretin Thr60Ala Appalachian-type mutation in a Japanese family with familial amyloidotic polyneuropathy. Kotani N, Hattori T, Yamagata S, Tokuda T, Shirasawa A, Yamaguchi S, Kobayashi S, Ikeda S. Amyloid, 9(1):31-34, 01 Mar 2002 Cited by: 8 articles PMID: 12000195 city of tacoma fleet operations

Identifying Mixed Phenotype: Evaluating the Presence of ... - Alnylam

WebThe Thr60Ala mutation, in which threonine at posi- tion 60 (out of 127) is replaced by alanine, was first reported in an Irish kindred from the Appalachian region of WebSep 30, 2024 · A man with late-onset cardiac amyloidosis due to a transthyretin Thr60Ala mutation who was treated with an investigational RNAi therapeutic, revusiran, which targets hepatic tran StHyretin production develops bilateral lower-extremity weakness and numbness, worsening balance, difficulty manipulating objects with his hands, and finger … WebThr60Ala mutation appears most commonly in people of Scottish or Irish descent with onset also in the sixth or seventh decade, typically presenting as cardiomyopathy and … city of tacoma events