Research & Literature

Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.

Sekijima Y

Journal of neurology, neurosurgery, and psychiatry 2015; (86(9)):1036-43 doi:10.1136/jnnp-2014-308724.

Outcome of gastric emptying and gastrointestinal symptoms after liver transplantation for hereditary transthyretin amyloidosis.

Wixner J, Sundström T, Karling P, et al.

BMC gastroenterology 2015; (15()):51 doi:10.1186/s12876-015-0284-4.

Hereditary ATTR amyloidosis: a single-institution experience with 266 patients.

Swiecicki PL, Zhen DB, Mauermann ML, et al.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2015; (22(2)):123-31 doi:10.3109/13506129.2015.1019610.

Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis.

Gillmore JD, Maurer MS, Falk RH, et al.

Circulation 2016; (133(24)):2404-12 doi:10.1161/CIRCULATIONAHA.116.021612.

Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis.

Sekijima Y, Yazaki M, Oguchi K, et al.

Neurology 2016; (87(8)):773-81 doi:10.1212/WNL.0000000000003001.

A new staging system for cardiac transthyretin amyloidosis.

Gillmore JD, Damy T, Fontana M, et al.

European heart journal 2018; (39(30)):2799-2806 doi:10.1093/eurheartj/ehx589.

Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis).

Gonzalez-Duarte A

Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2019; (29(2)):245-251 doi:10.1007/s10286-018-0514-2.

Amyloid seeding of transthyretin by ex vivo cardiac fibrils and its inhibition.

Saelices L, Chung K, Lee JH, et al.

Proceedings of the National Academy of Sciences of the United States of America 2018; (115(29)):E6741-E6750 doi:10.1073/pnas.1805131115.

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis.

Adams D, Gonzalez-Duarte A, O'Riordan WD, et al.

The New England journal of medicine 2018; (379(1)):11-21 doi:10.1056/NEJMoa1716153.

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis.

Benson MD, Waddington-Cruz M, Berk JL, et al.

The New England journal of medicine 2018; (379(1)):22-31 doi:10.1056/NEJMoa1716793.

Effects of Patisiran, an RNA Interference Therapeutic, on Cardiac Parameters in Patients With Hereditary Transthyretin-Mediated Amyloidosis.

Solomon SD, Adams D, Kristen A, et al.

Circulation 2019; (139(4)):431-443 doi:10.1161/CIRCULATIONAHA.118.035831.

Diagnosis of amyloid neuropathy.

Kapoor M, Rossor AM, Jaunmuktane Z, et al.

Practical neurology 2019; (19(3)):250-258 doi:10.1136/practneurol-2018-002098.

Electrophysiological demyelinating features in hereditary ATTR amyloidosis.

Ohashi N, Kodaira M, Morita H, Sekijima Y

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2019; (26(1)):15-23 doi:10.1080/13506129.2018.1564903.

Advances in the diagnosis and treatment of transthyretin amyloidosis with cardiac involvement.

Rigopoulos AG, Ali M, Abate E, et al.

Heart failure reviews 2019; (24(4)):521-533 doi:10.1007/s10741-019-09776-3.

Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations.

Conceição I, Damy T, Romero M, et al.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2019; (26(1)):3-9 doi:10.1080/13506129.2018.1556156.

Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Damy T, Kristen AV, Suhr OB, et al.

European heart journal 2022; (43(5)):391-400 doi:10.1093/eurheartj/ehz173.

Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review.

Ruberg FL, Grogan M, Hanna M, et al.

Journal of the American College of Cardiology 2019; (73(22)):2872-2891 doi:10.1016/j.jacc.2019.04.003.

Inotersen for the treatment of adults with polyneuropathy caused by hereditary transthyretin-mediated amyloidosis.

Gertz MA, Scheinberg M, Waddington-Cruz M, et al.

Expert review of clinical pharmacology 2019; (12(8)):701-711 doi:10.1080/17512433.2019.1635008.

Development of measures of polyneuropathy impairment in hATTR amyloidosis: From NIS to mNIS + 7.

Dyck PJB, González-Duarte A, Obici L, et al.

Journal of the neurological sciences 2019; (405()):116424 doi:10.1016/j.jns.2019.116424.

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis.

Obici L, Suhr OB

Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2019; (29(Suppl 1)):55-63 doi:10.1007/s10286-019-00628-6.

Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis.

Maurer MS, Bokhari S, Damy T, et al.

Circulation. Heart failure 2019; (12(9)):e006075 doi:10.1161/CIRCHEARTFAILURE.119.006075.

Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.

Adams D, Ando Y, Beirão JM, et al.

Journal of neurology 2021; (268(6)):2109-2122 doi:10.1007/s00415-019-09688-0.

Amyloid cardiomyopathy.

Kristen AV

Herz 2020; (45(3)):267-271 doi:10.1007/s00059-020-04904-4.

Monitoring of asymptomatic family members at risk of hereditary transthyretin amyloidosis for early intervention with disease-modifying therapies.

Ueda M, Sekijima Y, Koike H, et al.

Journal of the neurological sciences 2020; (414()):116813 doi:10.1016/j.jns.2020.116813.

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.

Dohrn MF, Auer-Grumbach M, Baron R, et al.

Journal of neurology 2021; (268(10)):3610-3625 doi:10.1007/s00415-020-09962-6.

Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis.

Paulsson Rokke H, Sadat Gousheh N, Westermark P, et al.

Orphanet journal of rare diseases 2020; (15(1)):278 doi:10.1186/s13023-020-01565-8.

Efficacy of Tafamidis in Patients With Hereditary and Wild-Type Transthyretin Amyloid Cardiomyopathy: Further Analyses From ATTR-ACT.

Rapezzi C, Elliott P, Damy T, et al.

JACC. Heart failure 2021; (9(2)):115-123 doi:10.1016/j.jchf.2020.09.011.

Tafamidis: A Review in Transthyretin Amyloid Cardiomyopathy.

Lamb YN

American journal of cardiovascular drugs : drugs, devices, and other interventions 2021; (21(1)):113-121 doi:10.1007/s40256-020-00461-7.

Screening for ATTR amyloidosis in the clinic: overlapping disorders, misdiagnosis, and multiorgan awareness.

Nativi-Nicolau JN, Karam C, Khella S, Maurer MS

Heart failure reviews 2022; (27(3)):785-793 doi:10.1007/s10741-021-10080-2.

Canadian Guidelines for Hereditary Transthyretin Amyloidosis Polyneuropathy Management.

Alcantara M, Mezei MM, Baker SK, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2022; (49(1)):7-18 doi:10.1017/cjn.2021.34.

A Review of Novel Agents and Clinical Considerations in Patients With ATTR Cardiac Amyloidosis.

Benbrahim M, Norman K, Sanchorawala V, et al.

Journal of cardiovascular pharmacology 2021; (77(5)):544-548 doi:10.1097/FJC.0000000000001004.

Updates in Cardiac Amyloidosis Diagnosis and Treatment.

Stern LK, Kittleson MM

Current oncology reports 2021; (23(4)):47 doi:10.1007/s11912-021-01028-8.

Nuclear Imaging for the Diagnosis of Cardiac Amyloidosis in 2021.

Li W, Uppal D, Wang YC, et al.

Diagnostics (Basel, Switzerland) 2021; (11(6)) doi:10.3390/diagnostics11060996.

Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review.

Chandrashekar P, Alhuneafat L, Mannello M, et al.

Circulation. Genomic and precision medicine 2021; (14(5)):e003356 doi:10.1161/CIRCGEN.121.003356.

Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression.

Adams D, Algalarrondo V, Polydefkis M, et al.

Orphanet journal of rare diseases 2021; (16(1)):411 doi:10.1186/s13023-021-01960-9.

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.

Skrahina V, Grittner U, Beetz C, et al.

Annals of medicine 2021; (53(1)):1787-1796 doi:10.1080/07853890.2021.1988696.

CNS Involvement in Hereditary Transthyretin Amyloidosis.

Sousa L, Coelho T, Taipa R

Neurology 2021; (97(24)):1111-1119 doi:10.1212/WNL.0000000000012965.

Transthyretin: Its function and amyloid formation.

Ueda M

Neurochemistry international 2022; (155()):105313 doi:10.1016/j.neuint.2022.105313.

Multimodal Imaging and Biomarkers in Cardiac Amyloidosis.

Jung MH, Chang S, Han EJ, Youn JC

Diagnostics (Basel, Switzerland) 2022; (12(3)) doi:10.3390/diagnostics12030627.

Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK.

Gillmore JD, Reilly MM, Coats CJ, et al.

Advances in therapy 2022; (39(6)):2292-2301 doi:10.1007/s12325-022-02139-9.

New Advanced Imaging Parameters and Biomarkers-A Step Forward in the Diagnosis and Prognosis of TTR Cardiomyopathy.

Rimbas RC, Balinisteanu A, Magda SL, et al.

Journal of clinical medicine 2022; (11(9)) doi:10.3390/jcm11092360.

Extracardiac Biopsy Sensitivity in Transthyretin Amyloidosis Cardiomyopathy Patients With Positive 99 mTc-Labeled Pyrophosphate Scintigraphy Findings.

Nishi M, Takashio S, Morioka M, et al.

Circulation journal : official journal of the Japanese Circulation Society 2022; (86(7)):1113-1120 doi:10.1253/circj.CJ-22-0118.

Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis.

Ando Y, Adams D, Benson MD, et al.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2022; (29(3)):143-155 doi:10.1080/13506129.2022.2052838.

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.

Dispenzieri A, Coelho T, Conceição I, et al.

Orphanet journal of rare diseases 2022; (17(1)):236 doi:10.1186/s13023-022-02359-w.

OPHTHALMOLOGIC INVOLVEMENT IN PATIENTS WITH HEREDITARY TRANSTHYRETIN AMYLOIDOSIS.

Ruiz-Medrano J, Puertas M, Almazán-Alonso E, et al.

Retina (Philadelphia, Pa.) 2023; (43(1)):49-56 doi:10.1097/IAE.0000000000003641.

Drug and Gene Therapy for Treating Variant Transthyretin Amyloidosis (ATTRv) Neuropathy.

Dardiotis E, Kyriakides T

Current neuropharmacology 2023; (21(3)):471-481 doi:10.2174/1570159X21666221108094736.

[Late-onset hereditary transthyretin amyloidosis with polyneuropathy. Report of one case].

Matamala JM, Peña C, Moreno-Roco J, et al.

Revista medica de Chile 2022; (150(9)):1260-1265 doi:10.4067/S0034-98872022000901260.

Patisiran for the Treatment of Transthyretin-mediated Amyloidosis with Cardiomyopathy.

Ioannou A, Fontana M, Gillmore JD

Heart international 2023; (17(1)):27-35 doi:10.17925/HI.2023.17.1.27.

Strong positive light chain immunostaining in a patient with transthyretin amyloidosis.

Chen J, Chen H, Zhou L, et al.

Hematology (Amsterdam, Netherlands) 2023; (28(1)):2244315 doi:10.1080/16078454.2023.2244315.

[Neurological manifestations of ATTR amyloidosis].

Pernice HF, Hahn K

Innere Medizin (Heidelberg, Germany) 2023; (64(9)):848-854 doi:10.1007/s00108-023-01570-6.

Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.

Di Stefano V, Lupica A, Alonge P, et al.

European journal of neurology 2024; (31(1)):e16065 doi:10.1111/ene.16065.

Vutrisiran: A Review in Polyneuropathy of Hereditary Transthyretin-Mediated Amyloidosis.

Nie T, Heo YA, Shirley M

Drugs 2023; (83(15)):1425-1432 doi:10.1007/s40265-023-01943-z.

Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.

Ando Y, Waddington-Cruz M, Sekijima Y, et al.

Orphanet journal of rare diseases 2023; (18(1)):323 doi:10.1186/s13023-023-02910-3.

Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.

Beauvais D, Labeyrie C, Cauquil C, et al.

Journal of neurology, neurosurgery, and psychiatry 2024; (95(6)):489-499 doi:10.1136/jnnp-2023-332180.

Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review.

Merino-Merino AM, Labrador-Gomez J, Sanchez-Corral E, et al.

Biomedicines 2023; (12(1)) doi:10.3390/biomedicines12010025.

Longitudinal analysis of serum neurofilament light chain levels as marker for neuronal damage in hereditary transthyretin amyloidosis.

Berends M, Brunger AF, Bijzet J, et al.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2024; (31(2)):132-141 doi:10.1080/13506129.2024.2327342.

Hereditary Transthyretin Amyloidosis and the Impact of Classic and New Treatments on Kidney Function: A Review.

Meléndrez-Balcázar E, Aranda-Vela K, Cervantes-Hernández A, López-Cureño S

American journal of kidney diseases : the official journal of the National Kidney Foundation 2024; (84(2)):224-231 doi:10.1053/j.ajkd.2024.01.527.

Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.

Gentile L, Mazzeo A, Briani C, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(9)):4563-4571 doi:10.1007/s10072-024-07494-9.

Amyloid Neuropathy: From Pathophysiology to Treatment in Light-Chain Amyloidosis and Hereditary Transthyretin Amyloidosis.

Chompoopong P, Mauermann ML, Siddiqi H, Peltier A

Annals of neurology 2024; (96(3)):423-440 doi:10.1002/ana.26965.

Switching from inotersen to eplontersen in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: analysis from NEURO-TTRansform.

Conceição I, Berk JL, Weiler M, et al.

Journal of neurology 2024; (271(10)):6655-6666 doi:10.1007/s00415-024-12616-6.

[Proposals for the early diagnosis of late-onset hereditary ATTR amyloidosis in ‍nonendemic areas in Japan].

Maruyama Saladini K, Koike H, Ueda M, et al.

Rinsho shinkeigaku = Clinical neurology 2024; (64(10)):708-713 doi:10.5692/clinicalneurol.cn-002002.

A series of cases of transthyretin amyloid cardiomyopathy with negative bone scintigraphy but a confirmed positive endomyocardial biopsy.

Fraix A, Itti E, Zaroui A, et al.

Orphanet journal of rare diseases 2024; (19(1)):381 doi:10.1186/s13023-024-03401-9.

Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.

Sekijima Y, Sousa L

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2025; (32(2)):117-128 doi:10.1080/13506129.2024.2435573.

Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy: A Randomized Clinical Trial With Open-Label Extension.

Adams D, Wixner J, Polydefkis M, et al.

JAMA neurology 2025; (82(3)):228-236 doi:10.1001/jamaneurol.2024.4631.

Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.

de Frutos F, Herrador L, Peiró-Aventín B, et al.

Revista espanola de cardiologia (English ed.) 2025; (78(9)):768-777 doi:10.1016/j.rec.2024.12.012.

Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study.

Péréon Y, Adams D, Camdessanché JP, et al.

Orphanet journal of rare diseases 2025; (20(1)):95 doi:10.1186/s13023-025-03589-4.

Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapy.

Sander L, Chiaro G, Abelardo D, et al.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2025; (32(3)):246-254 doi:10.1080/13506129.2025.2494657.

Peripheral Nervous System Involvement of Hereditary Transthyretin Amyloidosis in the United States: A Multi-Center Perspective.

Desai U, Ilieva HS, Eyer JE, Peltier AC

Muscle & nerve 2025; (72(2)):286-293 doi:10.1002/mus.28414.

Intracutaneous Amyloid Deposition is Associated With Nerve Conduction Studies Deterioration in Presumed Asymptomatic Pathogenic Variant TTR Carriers.

Schulz N, Beauvais D, Cauquil C, et al.

European journal of neurology 2025; (32(7)):e70277 doi:10.1111/ene.70277.

Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members.

Fazzini L, Castrichini M, Li Y, et al.

JACC. Advances 2025; (4(8)):102036 doi:10.1016/j.jacadv.2025.102036.

How to perform and interpret cardiac amyloidosis radionuclide imaging (CARI).

Benz DC, Flammer AJ, Schwotzer R, Buechel RR

Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology 2025; (51()):102448 doi:10.1016/j.nuclcard.2025.102448.

Vutrisiran in Transthyretin Amyloidosis: A Pooled Safety Analysis of HELIOS-A and HELIOS-B.

Witteles RM, Garcia-Pavia P, Morbach C, et al.

JACC. Advances 2025; (4(9)):102066 doi:10.1016/j.jacadv.2025.102066.

Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.

Nomura T, Misumi Y, Tasaki M, et al.

Orphanet journal of rare diseases 2025; (20(1)):474 doi:10.1186/s13023-025-04006-6.

What are the Safest and Easiest Extra-Cardiac Biopsy Sites for the Diagnosis of Wild-Type Transthyretin Cardiac Amyloidosis? Confirmation of the Diagnosis by Biopsy of the Pectoralis Muscle During Pacemaker Insertion.

Takahashi K, Ueda M, Utsunomiya Y, et al.

European journal of case reports in internal medicine 2025; (12(10)):005785 doi:10.12890/2025_005785.

Evaluation of autonomic dysfunction in hereditary transthyretin amyloidosis.

Martínez-Valle F, Casasnovas-Pons C, Romero-Acebal M, Galán-Dávila L

Neurologia 2025; (40(9)):915-923 doi:10.1016/j.nrleng.2025.08.002.

Concurrent light chain and transthyretin cardiac amyloidosis: A case report and review of the literature.

Sun H, Zhang N, Liu X, et al.

Medicine 2025; (104(49)):e46900 doi:10.1097/MD.0000000000046900.

Role of ambulatory blood pressure monitoring as a non-invasive autonomic screening tool in hereditary transthyretin amyloidosis.

Sander L, Chiaro G, Abelardo D, et al.

Journal of neurology, neurosurgery, and psychiatry 2026; (97(3)):274-277 doi:10.1136/jnnp-2025-337061.

Predictors of poor prognosis in a large cohort of patients with hereditary cardiac transthyretin amyloidosis.

Ripoll-Vera T, de Frutos F, González-Costello J, et al.

Revista espanola de cardiologia (English ed.) 2026; (79(7)):618-630 doi:10.1016/j.rec.2025.12.016.

Amyloidogenic phenotypical variation affects post-transplant outcome of hereditary transthyretin amyloidosis: a retrospective study.

Wilczek HE, Tranäng M, Coelho T, Ericzon BG

eGastroenterology 2026; (4(1)):e100243 doi:10.1136/egastro-2025-100243.

A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin Amyloidosis.

Hamedani M, Prada V, Massucco S, et al.

Journal of the peripheral nervous system : JPNS 2026; (31(2)):e70127 doi:10.1111/jns.70127.