Pub Date : 2025-12-21DOI: 10.1080/13506129.2025.2605332
Luca Broggini, Diane Marie Valérie Bonnet, Karolina W Swiderska, Sebastien Bender, Gilles R Codo, Alessio Lampis, Gemma Martinez-Rivas, Pauline Duchatelet, Aurore Danigo, Antonio Chaves-Sanjuan, Christophe Sirac, Stefano Ricagno
{"title":"Untwisted amyloid fibrils from a transgenic mouse model of AL amyloidosis.","authors":"Luca Broggini, Diane Marie Valérie Bonnet, Karolina W Swiderska, Sebastien Bender, Gilles R Codo, Alessio Lampis, Gemma Martinez-Rivas, Pauline Duchatelet, Aurore Danigo, Antonio Chaves-Sanjuan, Christophe Sirac, Stefano Ricagno","doi":"10.1080/13506129.2025.2605332","DOIUrl":"https://doi.org/10.1080/13506129.2025.2605332","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-4"},"PeriodicalIF":7.4,"publicationDate":"2025-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145806369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Endothelial glycocalyx disruption and early renal tubular injury in hereditary transthyretin Amyloidosis with dysautonomia.","authors":"Lara Albuquerque de Brito, Cleonisio Leite Rodrigues, Alexandre Braga Libório, Raynrich Kevin Assis Lima, Hermany Capistrano Freitas, Fernanda Martins Maia Carvalho","doi":"10.1080/13506129.2025.2603258","DOIUrl":"https://doi.org/10.1080/13506129.2025.2603258","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-4"},"PeriodicalIF":7.4,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145783477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-09-26DOI: 10.1080/13506129.2025.2562864
Carolina Lemos, Ersilia M DeFilippis
{"title":"Looking beyond left ventricular wall thickness: the search for cardiac amyloidosis in women.","authors":"Carolina Lemos, Ersilia M DeFilippis","doi":"10.1080/13506129.2025.2562864","DOIUrl":"10.1080/13506129.2025.2562864","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"309-310"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145151606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-10-16DOI: 10.1080/13506129.2025.2570096
Vaishali Sanchorawala, Ashutosh Wechalekar, Peter Mollee, Yoshiki Sekijima, Mathew S Maurer, Nelson Leung, Stefan O Schönland, Shaji Kumar
{"title":"A collaborative approach to amyloidosis and a multidisciplinary care framework - position statement from the International Society of Amyloidosis.","authors":"Vaishali Sanchorawala, Ashutosh Wechalekar, Peter Mollee, Yoshiki Sekijima, Mathew S Maurer, Nelson Leung, Stefan O Schönland, Shaji Kumar","doi":"10.1080/13506129.2025.2570096","DOIUrl":"10.1080/13506129.2025.2570096","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"303-308"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-10-15DOI: 10.1080/13506129.2025.2574101
Shaji Kumar
{"title":"Change of guard at <i>Amyloid</i> - a tribute to outgoing Editor in Chief, Professor Per Westermark.","authors":"Shaji Kumar","doi":"10.1080/13506129.2025.2574101","DOIUrl":"10.1080/13506129.2025.2574101","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"301-302"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-11-15DOI: 10.1080/13506129.2025.2577796
Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carmen Orellana
{"title":"Commentary to revisiting the genetic epidemiology of ATTRv in Spain: the Balearic Islands as a high-prevalence founder focus.","authors":"Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carmen Orellana","doi":"10.1080/13506129.2025.2577796","DOIUrl":"10.1080/13506129.2025.2577796","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"387-389"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145524843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-07-07DOI: 10.1080/13506129.2025.2527830
Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, Mónica Roselló, Silvestre Oltra, Laia Pedrola, Sandra Monfort, Alba Gabaldón-Albero, Francisco Martínez, Carmen Orellana
Background: Hereditary transthyretin amyloidosis (ATTRv) is a rare, progressive disorder caused by TTR gene variants, leading to amyloid fibril deposition and clinical manifestations like cardiomyopathy and polyneuropathy. National data for Spain are scarce, despite known high-prevalence areas such as Majorca.
Methods: This multicentric, retrospective study analysed 4,526 individuals from 48/52 Spanish regions between 2015 and 2024, including 3,960 index cases and 566 at-risk relatives. Genetic testing was performed to identify pathogenic TTR variants.
Results: Among 393 carriers of pathogenic variants, the most prevalent were p.Val50Met (64.1%) and p.Val142Ile (29.5%). Regional prevalence varied, with new high-prevalence areas identified, including Cádiz, Castellón, Ciudad Real, Huelva, Valencia and Zamora. A novel variant of unknown clinical significance, p.Ser137Thr, was found in two unrelated cases. Genotype-phenotype correlations showed p.Val50Met is linked to neurological phenotypes, while p.Val142Ile is associated with cardiac manifestations. A male predominance was observed in index cases, while the sex ratio in carrier relatives was similar to the general population.
Conclusions: This is the largest nationwide study of ATTRv in Spain, providing key insights into its genetic landscape. The findings suggest migratory factors may influence variant distribution, emphasising the importance of genetic screening for early diagnosis and management.
{"title":"Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.","authors":"Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, Mónica Roselló, Silvestre Oltra, Laia Pedrola, Sandra Monfort, Alba Gabaldón-Albero, Francisco Martínez, Carmen Orellana","doi":"10.1080/13506129.2025.2527830","DOIUrl":"10.1080/13506129.2025.2527830","url":null,"abstract":"<p><strong>Background: </strong>Hereditary transthyretin amyloidosis (ATTRv) is a rare, progressive disorder caused by <i>TTR</i> gene variants, leading to amyloid fibril deposition and clinical manifestations like cardiomyopathy and polyneuropathy. National data for Spain are scarce, despite known high-prevalence areas such as Majorca.</p><p><strong>Methods: </strong>This multicentric, retrospective study analysed 4,526 individuals from 48/52 Spanish regions between 2015 and 2024, including 3,960 index cases and 566 at-risk relatives. Genetic testing was performed to identify pathogenic <i>TTR</i> variants.</p><p><strong>Results: </strong>Among 393 carriers of pathogenic variants, the most prevalent were p.Val50Met (64.1%) and p.Val142Ile (29.5%). Regional prevalence varied, with new high-prevalence areas identified, including Cádiz, Castellón, Ciudad Real, Huelva, Valencia and Zamora. A novel variant of unknown clinical significance, p.Ser137Thr, was found in two unrelated cases. Genotype-phenotype correlations showed p.Val50Met is linked to neurological phenotypes, while p.Val142Ile is associated with cardiac manifestations. A male predominance was observed in index cases, while the sex ratio in carrier relatives was similar to the general population.</p><p><strong>Conclusions: </strong>This is the largest nationwide study of ATTRv in Spain, providing key insights into its genetic landscape. The findings suggest migratory factors may influence variant distribution, emphasising the importance of genetic screening for early diagnosis and management.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"324-334"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-09-07DOI: 10.1080/13506129.2025.2554876
Jonas Wixner
{"title":"Article commentary on: 'impact of autonomic dysfunction on cardiovascular outcomes among patients with ATTR cardiomyopathy: insights from the COMPASS-31'.","authors":"Jonas Wixner","doi":"10.1080/13506129.2025.2554876","DOIUrl":"10.1080/13506129.2025.2554876","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"311-313"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145008576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A case of acute myelopathy in ATTR-Val30Met amyloidosis with leptomeningeal involvement: pathophysiological insights and upcoming therapeutic challenges.","authors":"Obay Alalousi, Thierry Gendre, Blanche Bapst, Violaine Planté-Bordeneuve","doi":"10.1080/13506129.2025.2533921","DOIUrl":"10.1080/13506129.2025.2533921","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"364-366"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-08-13DOI: 10.1080/13506129.2025.2544926
Isabel Conceição, Isabel de Castro, José Castro
Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is often associated with neuropathic pain (NP), involving developing mechanisms across different nerve fibres. This study aimed to explore the relationship between NP intensity and clinical/neurophysiological measures in symptomatic ATTR V30M (p.V50M)-PN patients.
Methods: We included 106 symptomatic patients (46 males; mean age 47.5 ± 13.2 years). NP severity was classified using three pain-related items from the Norfolk QOL-DN, generating three groups: no pain, mild pain, and moderate-to-severe pain. Clinical and neurophysiological assessments included the Neuropathy Impairment Score (NIS), nerve conduction studies (sural SNAP, peroneal CMAP), electrochemical skin conductance (ESC), sympathetic skin response (SSR), and Quantitative Sensory Testing (QST). Statistical analyses included non-parametric tests and ordinal logistic regression.
Results: Patients with NP had significantly higher NIS scores and reduced sural/peroneal amplitudes and ESC values. However, only NIS was significantly associated with NP intensity (OR = 1.062, 95% CI: 1.008-1.119, p = .024). Subscore analysis showed the sensory component as the main driver (OR = 1.205, p = .015). QST variables differed by pain presence but not intensity.
Conclusion: NIS, especially its sensory subscore, is a robust predictor of NP severity in ATTRv-PN. These findings support its utility in monitoring disease burden and guiding management.
背景：遗传性甲状腺转视蛋白淀粉样变合并多神经病变（ATTRv-PN）通常与神经性疼痛（NP）相关，涉及不同神经纤维的发展机制。本研究旨在探讨有症状ATTR V30M (p.V50M)-PN患者NP强度与临床/神经生理指标的关系。方法：纳入106例有症状患者(男46例；平均年龄（47.5±13.2岁）。NP严重程度使用Norfolk QOL-DN中的三个疼痛相关项目进行分类，分为三组：无疼痛、轻度疼痛和中度至重度疼痛。临床和神经生理评估包括神经病变损害评分（NIS）、神经传导研究（腓骨SNAP、腓骨CMAP）、皮肤电化学电导（ESC）、交感皮肤反应（SSR）和定量感觉测试（QST）。统计分析包括非参数检验和有序逻辑回归。结果：NP患者的NIS评分显著升高，腓肠/腓骨波幅和ESC值降低。然而，只有NIS与NP强度显著相关（OR = 1.062, 95% CI: 1.008-1.119, p = 0.024）。分评分分析显示，感觉成分是主要驱动因素（OR = 1.205, p = 0.015）。QST变量因疼痛存在而异，但强度无关。结论：NIS，尤其是其感觉评分，是ATTRv-PN患者NP严重程度的可靠预测因子。这些发现支持其在监测疾病负担和指导管理方面的效用。
{"title":"Clinical and neurophysiological features of neuropathic pain in hereditary transthyretin amyloidosis associated polyneuropathy.","authors":"Isabel Conceição, Isabel de Castro, José Castro","doi":"10.1080/13506129.2025.2544926","DOIUrl":"10.1080/13506129.2025.2544926","url":null,"abstract":"<p><strong>Background: </strong>Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is often associated with neuropathic pain (NP), involving developing mechanisms across different nerve fibres. This study aimed to explore the relationship between NP intensity and clinical/neurophysiological measures in symptomatic ATTR V30M (p.V50M)-PN patients.</p><p><strong>Methods: </strong>We included 106 symptomatic patients (46 males; mean age 47.5 ± 13.2 years). NP severity was classified using three pain-related items from the Norfolk QOL-DN, generating three groups: no pain, mild pain, and moderate-to-severe pain. Clinical and neurophysiological assessments included the Neuropathy Impairment Score (NIS), nerve conduction studies (sural SNAP, peroneal CMAP), electrochemical skin conductance (ESC), sympathetic skin response (SSR), and Quantitative Sensory Testing (QST). Statistical analyses included non-parametric tests and ordinal logistic regression.</p><p><strong>Results: </strong>Patients with NP had significantly higher NIS scores and reduced sural/peroneal amplitudes and ESC values. However, only NIS was significantly associated with NP intensity (OR = 1.062, 95% CI: 1.008-1.119, <i>p</i> = .024). Subscore analysis showed the sensory component as the main driver (OR = 1.205, <i>p</i> = .015). QST variables differed by pain presence but not intensity.</p><p><strong>Conclusion: </strong>NIS, especially its sensory subscore, is a robust predictor of NP severity in ATTRv-PN. These findings support its utility in monitoring disease burden and guiding management.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"344-351"},"PeriodicalIF":7.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144849531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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