THE CASE OF TRANSTHYRETIN FAMILIAL AMYLOID POLYNEUROPATHY WITH LATE DEBUT; CLINICAL CASE
- Authors: Kovrazhkina E.A.1, Smirnov A.P.2, Serdiuk A.V.2, Leliuk V.G.1, Shamalov N.A.1
-
Affiliations:
- Federal center of brain and neurotechnologies
- Pirogov Russian National Research Medical University
- Issue: Vol 22, No 2 (2020)
- Pages: 41-44
- Section: Articles
- URL: https://journals.rcsi.science/2075-1753/article/view/95204
- DOI: https://doi.org/10.26442/20751753.2020.2.200031
- ID: 95204
Cite item
Full Text
Abstract
Full Text
##article.viewOnOriginalSite##About the authors
Elena A. Kovrazhkina
Federal center of brain and neurotechnologies
Email: elekov2@yandex.ru
канд. мед. наук, ст. науч. сотр. Moscow, Russia
Andrei P. Smirnov
Pirogov Russian National Research Medical Universityканд. мед. наук, доц. каф. неврологии, нейрохирургии и медицинской генетики Moscow, Russia
Anna V. Serdiuk
Pirogov Russian National Research Medical Universityканд. мед. наук, ассистент каф. неврологии, нейрохирургии и медицинской генетики Moscow, Russia
Vladimir G. Leliuk
Federal center of brain and neurotechnologiesд-р мед. наук, проф., рук. отд. радиологии и клинической физиологии Moscow, Russia
Nikolai A. Shamalov
Federal center of brain and neurotechnologiesд-р мед. наук, проф. ФГБУ ФЦМН, гл. внештат. специалист по неврологии г. Москвы Moscow, Russia
References
- Зиновьева О.Е., Сафиулина Э.И. Транстиретиновая амилоидная полинейропатия: патогенез, клинические особенности, перспективы лечения. Manage pain. 2017; 4: 12-5. @@Zinov'eva O.E., Safiulina E.I. Transtiretinovaia amiloidnaia polineiropatiia: patogenez, klinicheskie osobennosti, perspektivy lecheniia. Manage pain. 2017; 4: 12-5 (in Russian).
- Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36:411-23.
- Sekiijima Y, Kelly JW, Ikeda S. Pathogenesis of therapeutic strategies of ameliorate the transthyretin amyloidoses. Curr Pharm des 2008; 14 (30): 3219-30. ИНФОРМАЦИЯ ОБ АВТОРАХ / INFORMATION ABOUT THE AUTHORS
- Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry 2015; 86 (9): 1036-43.
- Falk RH, Comenzo RL, Skinner M.The systemic amyloidoses. N Eng J Med 1997; 337: 898-909.
- Plante-Bordeneuve V, Ferreira A, Lalu T et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 2007; 69: 693-8.
- Adams D, Suhr OB, Hund E et al. for T.-F. First European consensus for diagnosis, management, and treatmentof transthyretin familial amyloid polyneuropathy. Curr Opin Neurol 2016; 29 (Suppl. 1): S14-26.
- Benson MD et al. Transthyretin amyloidosis. Amyloid 1996; 3: 44-56.
- Ando Y, Nakamura M, Araki S. Transthyretin-related familiar amyloidic polyneuropathy. Arch Neurol 2005;62:1057-62.
- Ikeda S, Yanagisawa N, Hongo M, Ito N. Vagus nerve and celiac ganglion lesions in generalizeda-myloidosis: a correlative study of familial amyloid polyneuropathy and AL-amyloidosis. J Neurol Sci 1987; 79 (1): 129-39.
- Зиновьева О.Е., Умари Д., Солоха О., Яхно Н. Амилоидная невропатия у пациента с транстиретиновым семейным амилоидозом. Неврологический журнал. 2016; 5: 305-12. @@Zinov'eva O.E., Umari D., Solokha O., Iakhno N. Amiloidnaia nevropatiia u patsienta s transtiretinovym semeinym amiloidozom. Nevrologicheskii zhurnal. 2016; 5: 305-12 (in Russian).
- Adams D. Recent advances in the treatment of familial amyloid polyneuropathy. Ther Adv Neurol Disord 2013; 119: 129-39.
- Sousa A, Andersson R, Drugge U et al. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Human Heredity 1993; 43 (5): 288-94.
- Theaudin M, Loseron P, Algalarrondo V et al, French FAB Network (CORNAMIL) Study Group. Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas. Eur J Neurol 2019; 26 (3): 497-e36. doi: 10.1111/ene
- Lee YJ, Oh J, Hwang SK, Lee EJ et al. Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review. Neuropediatrics 2019; 50 (5): 322-6. doi: 10.1055/s-0039-1693145
- Pinto MV, Pinto LF, Dias M et al. Late-onset hereditary ATTR V30M amyloidosis with polyneuropathy: Characterization of Brazilian subjects from the THAOS registry. J Neurol Sci 2019; 403: 1-6. doi: 10.1016/j.jns.2019.05.030
- Zivkovic SA, Mnatsakanova D, Lacomis D. Phenotypes of late-onset transthyretin amyloid neuropathy: a diagnostic challenge. J Clin Neuromuscul Dis 2019; 21 (1): 1-6. doi: 10.1097/CND.0000000000000252
- Nakano Y, Tadokoro K, Ohta Y et al. Two cases of late onset familial amyloid polyneuropathy with a Glu61Lys transthyretin variant. J Neurol Sci 2018; 390: 22-5. doi: 10.1016/j.jns.2018.04.003
- Ericzon BG, Wilczek HE, Larsson M et al. Liver transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 2015; 99: 1847-54.
- Coelho T, Maia LF, Martins da SA et al. Tadamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012; 79: 785-92.
- Berk JL, Suhr OB, Obici L et al, Diflunisal Trial Consortium. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA 2013; 310: 2658-67.
- Kapoor M, Rossor AM, Laura M, Reilly MM. Clinical presentation, diagnosis and treatment of TTR amyloidosis. J Neuromuscul Dis 2019; 6 (2): 189-99. doi: 10.3233/JND-180371
- Смирнов А.П., Сердюк А.В., Ковражкина Е.А. Случай транстиретиновой семейной амилоидной полинейропатии: диагностический поиск. Consilium Medicum. 2018; 20 (9): 58-62. @@Smirnov A.P., Serdyuk A.V., Kovrazhkina E.A. The case of transthyretin familial amyloid polyneuropathy: diagnostic search. Consilium Medicum. 2018; 20 (9): 58-62 (in Russian).