The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Login
EN
+7 (495) 482-4118
+7 (495) 482-0604
+8 800 250-18-12
  • (toll-free number for subscriptions)
    Mon-Fri from 10 a.m. to 6 p.m.

  • © 1998-2025
+7 (495) 482-43-29
EN
All journals
Journal
Year
Year
Search result: 0

Kopishinskaia S.V.

Kafedra nevrologii, psikhiatrii i narkologii fakul'teta povysheniia kvalifikatsii vracheĭ GBOU VPO "Nizhegorodskaia gosudarstvennaia meditsinskaia akademiia", Nizhniĭ Novgorod

Transthyretin familial amyloid polyneuropathy

Authors:

Kopishinskaia S.V.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(10): 82‑89

DOI: 10.17116/jnevro201811810182

Read: 21058 times

Download PDF (RU)
Contact the author
Table of contents

TRANSTHYRETIN FAMILIAL AMYLOID POLYNEUROPATHY
TRANSTHYRETIN FAMILIAL AMYLOID POLYNEUROPATHY

To cite this article:

Kopishinskaia SV. Transthyretin familial amyloid polyneuropathy. S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(10):82‑89. (In Russ.)
https://doi.org/10.17116/jnevro201811810182

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
 
МСФ на ЯМ
Использование инфографики авторами научных работ
Close metadata
Abstract:

Transthyretin family amyloid polyneuropathy (TTR-FAP) is a progressive, ultimately fatal disease. It manifests itself primarily with sensory, motor and autonomic polyneuropathy and/or cardiomyopathy and is caused by extracellular deposition of insoluble amyloid fibrils in the endoneurium. The cause of TTR-FAP is the mutation in the gene encoding transthyretin, more than 100 types of mutations are known. Given the phenotypic diversity of TTR-FAP, it is difficult for clinicians to make this diagnosis. An erroneous diagnosis is a frequent occurrence, risking the onset of an organ pathology. The paper addresses the issues of the pathogenesis, diagnosis and treatment of TTR-FAP.

Keywords:

transthyretin family amyloid polyneuropathy
transthyretin
amyloid cardiomyopathy

Authors:

Kopishinskaia S.V.

Kafedra nevrologii, psikhiatrii i narkologii fakul'teta povysheniia kvalifikatsii vracheĭ GBOU VPO "Nizhegorodskaia gosudarstvennaia meditsinskaia akademiia", Nizhniĭ Novgorod

Close metadata

References:

  1. Gert MA, Benson MD, Dyck PJ, Grogan M, Coelho T, Cruz M, Berk JL, Plante-Bordeneuve V, Schmidt HJ, Merlini G. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J of the American Colledge of Cardiology. 2015;5:2451-2466. https://doi.org/10.016/j.jacc.2015.09.075
  2. Adams D, Lozerona P, Lacroixb C. Amyloid neuropathies. Curr Opin Neurol. 2012;25:564-572. https://doi.org/10.1097/wco.0b013e328357bdf6
  3. Parman Y, Adams D, Obici L, Galan L, Guergueltcheva V, Suhr OB, Coelho T. Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol. 2016;29(suppl 1):3-13. https://doi.org/10.1097/wco.0000000000000288
  4. Rapezzi C, Quarta CC, Riva L, Longhi S, Gallelli I, Lorenzini M, Ciliberti P, Biagini E, Salvi F, Branzi A. Transthyretin-related amyloidoses and the heart: a clinical overview. Nature reviews. Cardiology. 2010;10:1-11. https://doi.org/10.1038/nrcardio.2010.67
  5. Adams D. Optimizing the management of transthyretin familial amyloid polyneuropathy in Europe: early diagnosis and effective care. Curr Opin Neurol. 2016;29(suppl 1):1-2. https://doi.org/10.1097/wco.0000000000000294
  6. Zeldenrust SR. Genotype-phenotype correlation in FAP. Amyloid. 2012;9:22-24. https://doi.org/10.3109/13506129.2012.665400
  7. Barreiros AP, Galle PR, Otto G. Familial amyloid polyneuropathy. Dig Dis. 2013;31(1):170-174. https://doi.org/10.1159/000347214
  8. Adams D, Suhr OB, Hund E, Obici L, Tournev I, Campistol JM, Slama MS, Hazenberg BP, Coelho T. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016;29(suppl 1):14-26. https://doi.org/10.1097/wco.0000000000000289
  9. Said G, Planté-Bordeneuve V. TTR-familial amyloid polyneuropathy-neurological aspects. Amyloid. 2012;19(suppl 1):25-27. https://doi.org/10.3109/13506129.2012.673182
  10. Hsu JL, Liao MF, Hsu HC, Weng YC, Lo AL, Chang KH, Chang HS, Kuo HC, Huang CC, Ro LS. A prospective, observational study of patients with uncommon distal symmetric painful small-fiber neuropathy. PLoS One. 2017;12(9): https://doi.org/10.1371/journal.pone.0183948
  11. Ng Wing Tin S, Planté-Bordeneuve V, Salhi H, Goujon C, Damy T, Lefaucheur JP. Characterization of Pain in Familial Amyloid Polyneuropathy. Pain. 2015;16(11):1106-1114. https://doi.org/10.1016/j.jpain.2015.07.010
  12. Dohrn MF, Röcken C, De Bleecker JL, Martin JJ, Vorgerd M, Van den Bergh PY, Ferbert A, Hinderhofer K, Schröder JM, Weis J, Schulz JB, Claeys KG. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol. 2013;260(12):3093-3108. https://doi.org/10.1007/s00415-013-7124-7
  13. Adams D, Coelho T, Obici L, Merlini G, Mincheva Z, Suanprasert N, Bettencourt BR, Gollob JA, Gandhi PJ, Litchy WJ, Dyck PJ. Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. Neurology. 2015;85(8):675-682. https://doi.org/10.1212/wnl.0000000000001870
  14. Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L. «Red-flag» symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5-9. https://doi.org/10.1111/jns.12153
  15. Obici L, Kuks JB, Buades J, Adams D, Suhr OB, Coelho T, Kyriakides T. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol. 2016;29(suppl 1):27-35. https://doi.org/10.1097/wco.0000000000000290
  16. Kristen AV, Scherer K, Buss S, Siepen F, Haufe S, Bauer R, Hinderhofer K, Giannitsis E, Hardt S, Haberkorn U, Katus HA, Steen H. Noninvasive Risk Stratification of Patients With Transthyretin Amyloidosis. J Am Coll Cardiol. 2014;7(5):502-510. https://doi.org/10.1016/j.jcmg.2014.03.002
  17. Martinez-Naharro A, Treibel TA, Abdel-Gadir A, Bulluck H, Zumbo G, Knight DS, Kotecha T, Francis R, Hutt DF, Rezk T, Rosmini S, Quarta CC, Whelan CJ, Kellman P, Gillmore JD, Moon JC, Hawkins PN, Fontana M. Magnetic Resonance in Transthyretin Cardiac Amyloidosis. J Am Coll Cardiol. 2017;70(4):466-477. https://doi.org/10.1016/j.jacc.2017.05.053
  18. Gillmore JD, Damy T, Fontana M, Hutchinson M, Lachmann HJ, Martinez-Naharro A, Quarta CC, Rezk T, Whelan CJ, Gonzalez-Lopez E, Lane T, Gilbertson JA, Rowczenio D, Petrie A, Hawkins PN. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J. 2017;18:178-183. https://doi.org/10.1093/eurheartj/ehx589
  19. Damy T, Costes B, Hagège AA, Donal E, Eicher JC, Slama M, Guellich A, Rappeneau S, Gueffet JP, Logeart D, Planté-Bordeneuve V, Bouvaist H, Huttin O, Mulak G, Dubois-Randé JL, Goossens M, Canoui-Poitrine F, Buxbaum JN. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. Eur Heart J. 2016;37(23):1826-1834. https://doi.org/10.1093/eurheartj/ehv583
  20. Reynolds MM, Veverka KK, Gertz MA, Dispenzieri A, Zeldenrust SR, Leung N, Pulido JS. Ocular Manifestations of Familial Transthyretin Amyloidosis. Am J Ophthalmol. 2017;45:34-39. https://doi.org/10.1016/j.ajo.2017.09.001
  21. Venkatesh P, Selvan H, Singh SB, Gupta D, Kashyap S, Temkar S, Gogia V, Tripathy K, Chawla R, Vohra R. Vitreous Amyloidosis: Ocular, Systemic, and Genetic Insights. Ophthalmology. 2017;124(7):1014-1022. https://doi.org/10.1016/j.ophtha.2017.03.011
  22. Raya-Cruz M, Buades-Reines J, Gállego-Lezáun C, Ripoll-Vera T, Usón-Martín M, Cisneros-Barroso E. Early diagnosis in patients with transthyretin familial amyloid polyneuropathy: A comparative study. Med Clin (Barc). 2017;148(2):63-66. https://doi.org/10.1016/j.medcle.2016.09.042
  23. Ebenezer GJ, Liu Y, Judge DP, Cunningham K, Truelove S, Carter ND, Sebastian B, Byrnes K, Polydefkis M. Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy. Ann Neurol. 2017;82(1):44-56. https://doi.org/10.1002/ana.24972
  24. Podnar S, Sarafov S, Tournev I, Omejec G, Zidar J. Peripheral nerve ultrasonography in patients with transthyretin amyloidosis. Clin Neurophysiol. 2017;128(4):505-511. https://doi.org/10.1016/j.clinph.2017.01.013
  25. Kollmer J, Sahm F, Hegenbart U, Purrucker JC, Kimmich C, Schönland SO, Hund E, Heiland S, Hayes JM, Kristen AV, Röcken C, Pham M, Bendszus M, Weiler M. Sural nerve injury in familial amyloid polyneuropathy: MR neurography vs clinicopathologic tools. Neurology. 2017;89(5):475-484. https://doi.org/10.1212/wnl.0000000000004178
  26. Coelho T, Vinik A, Vinik EJ, Tripp T, Packman J, Grogan DR. Clinical measures in transthyretin familial amyloid polyneuropathy. Muscle Nerve. 2017;55(3):323-332. https://doi.org/10.1002/mus.25257
  27. Larrea CF, Verga L, Morbini P, Klersy C, Lavatelli F, Foli A, Obici L, Milani P, Capello GL, Paulli M, Palladini G, Giampaolo MG. A practical approach to the diagnosis of systemic amyloidosis. BLOOD. 2015;125(14):2239-2244. https://doi.org/10.1182/blood-2014-11-609883
  28. Mercan R, Bitik B, Mehmet ME, Kaya A, Tufan A, Özturk MA, Haznedaroglu S, Goker B. Minimally Invasive Minor Salivary Gland Biopsy for the Diagnosis of Amyloidosis in a Rheumatology Clinic. ISRN Rheumatology. 2014;7:1-3. https://doi.org/10.1155/2014/354648
  29. Adams D, Beaudonnet G, Adam C, Lacroix C, Théaudin M, Cauquil C, Labeyrie C. Familial amyloid polyneuropathy: When does it stop to be asymptomatic and need a treatment? Rev Neurol. 2016;172(10):645-652. https://doi.org/10.1016/j.neurol.2016.08.007
  30. Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. J Neurochem. 2017;3:157-159. https://doi.org/10.1111/jnc.14217
  31. Schmidt HH, Barroso F, González-Duarte A, Conceição I, Obici L, Keohane D, Amass L. Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy. Muscle Nerve. 2016;54(3):353-360. https://doi.org/10.1002/mus.25210
  32. Planté-Bordeneuve V, Kerschen P. Transthyretin familial amyloid polyneuropathy. Handb Clin Neurol. 2013;?:643-658. https://doi.org/10.1016/b978-0-444-52902-2.00038-2
  33. Maia LF, Magalhães R, Freitas J, Taipa R, Pires MM, Osório H, Dias D, Pessegueiro H, Correia M, Coelho T. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry. 2015;86(2):159-167. https://doi.org/10.1136/jnnp-2014-308107
  34. Dubrey S, Ackermann E, Gillmore J. The transthyretin amyloidoses: advances in therapy. Postgrad Med J. 2015;91(1078):439-448. https://doi.org/10.1136/postgradmedj-2014-133224
  35. Wange N, Anan I, Ericzon BG, Pennlert J, Pilebro B, Suhr OB, Wixner J. Atrial fibrillation and central nervous complications in liver transplanted hereditary transthyretin amyloidosis patients. Transplantation. 2017;1: https://doi.org/10.1097/tp.0000000000001975
  36. Planté-Bordeneuve V, Gorram F, Salhi H, Nordine T, Ayache SS, Le Corvoisier P, Azoulay D, Feray C, Damy T, Lefaucheur JP. Long-term treatment of transthyretin familial amyloid polyneuropathy with tafamidis: a clinical and neurophysiological study. J Neurol. 2017;264(2):268-276. https://doi.org/10.1007/s00415-016-8337-3
  37. Waddington Cruz M, Benson MD. A Review of Tafamidis for the Treatment of Transthyretin-Related Amyloidosis. Neuro Ther. 2015;4(2):61-79. https://doi.org/10.1007/s40120-015-0031-3
  38. Waddington Cruz M, Amass L, Keohane D, Schwartz J, Li H, Gundapeni B. Early intervention with tafamidis provides long-term (5.5-year) delay of neurologic progression in transthyretin hereditary amyloid polyneuropathy. Amyloid. 2016;23(3):178-183. https://doi.org/10.1080/13506129.2016.1207163
  39. Sultan MB, Gundapaneni B, Schumacher J, Schwartz JH. Treatment With Tafamidis Slows Disease Progression in Early-Stage Transthyretin Cardiomyopathy. Clin Med Insights Cardiol. 2017;11:1179546817730322. https://doi.org/10.1177/1179546817730322
  40. Hosoi A, Su Y, Torikai M, Jono H, Ishikawa D, Soejima K, Higuchi H, Guo J, Ueda M, Suenaga G, Motokawa H, Ikeda T, Senju S, Nakashima T., Ando Y. Novel Antibody for the Treatment of Transthyretin Amyloidosis. J Biol Chem. 2016;291(48):25096-25105. https://doi.org/10.1074/jbc.m116.738138
  41. Higaki JN, Chakrabartty A, Galant NJ, Hadley KC, Hammerson B, Nijjar T, Torres R, Tapia JR, Salmans J, Barbour R, Tam SJ, Flanagan K, Zago W, Kinney GG. Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin. Amyloid. 2016;23(2):86-97. https://doi.org/10.3109/13506129.2016.1148025
  42. Adams D, Théaudin M, Cauquil C, Algalarrondo V, Slama M. FAP neuropathy and emerging treatments. Curr Neurol Neurosci Rep. 2014;14(3):435. https://doi.org/10.1007/s11910-013-0435-3
  43. Ferreira N, Santos SA, Domingues MR, Saraiva MJ, Almeida MR. Dietary curcumin counteracts extracellular transthyretin deposition: insights on the mechanism of amyloid inhibition. Biochim Biophys Acta. 2013;1832(1):39-45. https://doi.org/10.1016/j.bbadis.2012.10.007
  44. Adams D, Cauquil C, Labeyrie C. Familial amyloid polyneuropathy. Curr Opin Neurol. 2017;30(5):481-489. https://doi.org/10.1097/wco.0000000000000476
  45. Ando Y, Coelho Y, Berk JL, Cruz MW, Ericzon B. Ikeda S, Lewis WD, Obici L, Planté-Bordeneuve V, Rapezzi C, Said G, Salvi F. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet Journal of Rare Disease. 2013;8:31. https://doi.org/10.1186/1750-1172-8-31
Contact the author
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

Contact us
If you have any questions, complaints or suggestions, please use this feedback form.
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.
Submit Application

You can become an author of one of our magazines, send a request and we will consider it in during the day.

Name
Phone
E-mail
Message
Login
Registration
E-mail
Password
Forgot Password?

Log in to the site using your account in one of the services

Password recovery
E-mail
Login
Register

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.