{"title":"40 years of CEPARM: transforming amyloidosis related to transthyretin from neglect to recognition.","authors":"Marcia Waddington Cruz, Marleide da Mota Gomes","doi":"10.1055/s-0045-1809401","DOIUrl":null,"url":null,"abstract":"<p><p>Variant transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and cardiomyopathy (ATTRv-CM), formerly known as familial <i>amyloidotic polyneuropathy</i> (FAP), is a severe, progressive disorder caused by mutations in the <i>transthyretin</i> (<i>TTR</i>) gene. Historically, FAP was considered a neglected disease due to its rarity and the limited understanding of its pathophysiology, which led to minimal research funding and few therapeutic options. The present article explores the transformative role of Centro de Paramiloidose Antônio Rodrigues de Mello (CEPARM), established in 1984, in elevating the status of FAP through significant advancements in research and treatment. Although CEPARM was not the sole catalyst for this shift, its contributions in liver transplantation, the development of pharmacological therapies, and holistic patient care have substantially improved the recognition and management of FAP. The article also examines CEPARM's impact on patient care, the ongoing challenges, and ethical considerations within the field.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 7","pages":"1-5"},"PeriodicalIF":1.6000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Arquivos de neuro-psiquiatria","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0045-1809401","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/20 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
引用次数: 0
Abstract
Variant transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and cardiomyopathy (ATTRv-CM), formerly known as familial amyloidotic polyneuropathy (FAP), is a severe, progressive disorder caused by mutations in the transthyretin (TTR) gene. Historically, FAP was considered a neglected disease due to its rarity and the limited understanding of its pathophysiology, which led to minimal research funding and few therapeutic options. The present article explores the transformative role of Centro de Paramiloidose Antônio Rodrigues de Mello (CEPARM), established in 1984, in elevating the status of FAP through significant advancements in research and treatment. Although CEPARM was not the sole catalyst for this shift, its contributions in liver transplantation, the development of pharmacological therapies, and holistic patient care have substantially improved the recognition and management of FAP. The article also examines CEPARM's impact on patient care, the ongoing challenges, and ethical considerations within the field.
变异型转甲状腺蛋白淀粉样变性伴多神经病变（ATTRv-PN）和心肌病（ATTRv-CM），以前称为家族性淀粉样变性多神经病变（FAP），是一种由转甲状腺蛋白（TTR）基因突变引起的严重进行性疾病。从历史上看，FAP被认为是一种被忽视的疾病，因为它的罕见性和对其病理生理学的了解有限，这导致了最少的研究资金和很少的治疗选择。本文探讨了1984年成立的准军事中心Antônio Rodrigues de Mello （CEPARM）在通过研究和治疗方面的重大进展提高FAP地位方面的变革作用。虽然CEPARM不是这一转变的唯一催化剂，但它在肝移植、药物治疗的发展和整体患者护理方面的贡献大大提高了对FAP的认识和管理。本文还研究了CEPARM对患者护理的影响、正在面临的挑战以及该领域的伦理考虑。
期刊介绍：
Arquivos de Neuro-Psiquiatria is the official journal of the Brazilian Academy of Neurology. The mission of the journal is to provide neurologists, specialists and researchers in Neurology and related fields with open access to original articles (clinical and translational research), editorials, reviews, historical papers, neuroimages and letters about published manuscripts. It also publishes the consensus and guidelines on Neurology, as well as educational and scientific material from the different scientific departments of the Brazilian Academy of Neurology.
The ultimate goals of the journal are to contribute to advance knowledge in the areas of Neurology and Neuroscience, and to provide valuable material for training and continuing education for neurologists and other health professionals working in the area. These goals might contribute to improving care for patients with neurological diseases. We aim to be the best Neuroscience journal in Latin America within the peer review system.
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