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Amyloidosis of peripheral nerves

MedGen UID:
867772
Concept ID:
C4022162
Disease or Syndrome
HPO: HP:0100292

Definition

The presence of amyloid deposition in the nerves of the peripheral nervous system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmyloidosis of peripheral nerves

Professional guidelines

PubMed

Nakov R, Suhr OB, Ianiro G, Kupcinskas J, Segal JP, Dumitrascu DL, Heinrich H, Mikolasevic I, Stojkovic-Lalosevic M, Barbov I, Sarafov S, Tournev I, Nakov V, Wixner J
Eur J Gastroenterol Hepatol 2021 May 1;33(5):613-622. doi: 10.1097/MEG.0000000000002030. PMID: 33394808
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902
Comenzo RL
Curr Treat Options Oncol 2000 Apr;1(1):83-9. doi: 10.1007/s11864-000-0018-9. PMID: 12057064

Recent clinical studies

Etiology

Salvalaggio A, Coraci D, Obici L, Cacciavillani M, Luigetti M, Mazzeo A, Pastorelli F, Grandis M, Cavallaro T, Bisogni G, Lozza A, Gemelli C, Gentile L, Russo M, Ermani M, Fabrizi GM, Plasmati R, De Napoli F, Campagnolo M, Castellani F, Salvi F, Fenu S, Devigili G, Pareyson D, Gasparotti R, Rapezzi C, Martinoli C, Padua L, Briani C
J Neurol 2022 Apr;269(4):1905-1912. Epub 2021 Aug 19 doi: 10.1007/s00415-021-10754-9. PMID: 34410494Free PMC Article
Nakov R, Suhr OB, Ianiro G, Kupcinskas J, Segal JP, Dumitrascu DL, Heinrich H, Mikolasevic I, Stojkovic-Lalosevic M, Barbov I, Sarafov S, Tournev I, Nakov V, Wixner J
Eur J Gastroenterol Hepatol 2021 May 1;33(5):613-622. doi: 10.1097/MEG.0000000000002030. PMID: 33394808
Shin SC, Robinson-Papp J
Mt Sinai J Med 2012 Nov-Dec;79(6):733-48. doi: 10.1002/msj.21352. PMID: 23239211Free PMC Article
Comenzo RL
Curr Treat Options Oncol 2000 Apr;1(1):83-9. doi: 10.1007/s11864-000-0018-9. PMID: 12057064
Moster ML, Savino PJ, Sergott RC, Bosley TM, Schatz NJ
Arch Ophthalmol 1984 Sep;102(9):1328-30. doi: 10.1001/archopht.1984.01040031078029. PMID: 6477251

Diagnosis

Koike H, Katsuno M
Neurol Sci 2021 Nov;42(11):4489-4501. Epub 2021 Sep 16 doi: 10.1007/s10072-021-05583-7. PMID: 34529193
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902
Adams D, Koike H, Slama M, Coelho T
Nat Rev Neurol 2019 Jul;15(7):387-404. Epub 2019 Jun 17 doi: 10.1038/s41582-019-0210-4. PMID: 31209302
Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L
J Peripher Nerv Syst 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153. PMID: 26663427Free PMC Article
Unal F, Hepgül K, Bayindir C, Bilge T, Imer M, Turantan I
J Neurosurg 1992 Feb;76(2):303-6. doi: 10.3171/jns.1992.76.2.0303. PMID: 1730961

Therapy

Aimo A, Castiglione V, Rapezzi C, Franzini M, Panichella G, Vergaro G, Gillmore J, Fontana M, Passino C, Emdin M
Nat Rev Cardiol 2022 Oct;19(10):655-667. Epub 2022 Mar 23 doi: 10.1038/s41569-022-00683-z. PMID: 35322226
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902
Reilly MM, Rossor AM
J Neurol Neurosurg Psychiatry 2020 Nov;91(11):1132-1136. Epub 2020 Aug 7 doi: 10.1136/jnnp-2020-323016. PMID: 32769113Free PMC Article
Coelho T, Adams D, Silva A, Lozeron P, Hawkins PN, Mant T, Perez J, Chiesa J, Warrington S, Tranter E, Munisamy M, Falzone R, Harrop J, Cehelsky J, Bettencourt BR, Geissler M, Butler JS, Sehgal A, Meyers RE, Chen Q, Borland T, Hutabarat RM, Clausen VA, Alvarez R, Fitzgerald K, Gamba-Vitalo C, Nochur SV, Vaishnaw AK, Sah DW, Gollob JA, Suhr OB
N Engl J Med 2013 Aug 29;369(9):819-29. doi: 10.1056/NEJMoa1208760. PMID: 23984729
Moster ML, Savino PJ, Sergott RC, Bosley TM, Schatz NJ
Arch Ophthalmol 1984 Sep;102(9):1328-30. doi: 10.1001/archopht.1984.01040031078029. PMID: 6477251

Prognosis

Cazzato D, Dalla Bella E, Saveri P, Taroni F, Marucci G, Lauria G
Neurol Sci 2019 Jun;40(6):1267-1269. Epub 2019 Jan 26 doi: 10.1007/s10072-019-3716-z. PMID: 30685801
Shin SC, Robinson-Papp J
Mt Sinai J Med 2012 Nov-Dec;79(6):733-48. doi: 10.1002/msj.21352. PMID: 23239211Free PMC Article
Tracy JA, Dyck PJ, Dyck PJ
Muscle Nerve 2010 May;41(5):710-5. doi: 10.1002/mus.21561. PMID: 20405503Free PMC Article
Comenzo RL
Curr Treat Options Oncol 2000 Apr;1(1):83-9. doi: 10.1007/s11864-000-0018-9. PMID: 12057064
Lechapt-Zalcman E, Authier FJ, Creange A, Voisin MC, Gherardi RK
Muscle Nerve 1999 Jan;22(1):105-7. doi: 10.1002/(sici)1097-4598(199901)22:1<105::aid-mus15>3.0.co;2-o. PMID: 9883863

Clinical prediction guides

Dispenzieri A, Coelho T, Conceição I, Waddington-Cruz M, Wixner J, Kristen AV, Rapezzi C, Planté-Bordeneuve V, Gonzalez-Moreno J, Maurer MS, Grogan M, Chapman D, Amass L; THAOS investigators
Orphanet J Rare Dis 2022 Jun 18;17(1):236. doi: 10.1186/s13023-022-02359-w. PMID: 35717381Free PMC Article
Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L
J Peripher Nerv Syst 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153. PMID: 26663427Free PMC Article
Coelho T, Adams D, Silva A, Lozeron P, Hawkins PN, Mant T, Perez J, Chiesa J, Warrington S, Tranter E, Munisamy M, Falzone R, Harrop J, Cehelsky J, Bettencourt BR, Geissler M, Butler JS, Sehgal A, Meyers RE, Chen Q, Borland T, Hutabarat RM, Clausen VA, Alvarez R, Fitzgerald K, Gamba-Vitalo C, Nochur SV, Vaishnaw AK, Sah DW, Gollob JA, Suhr OB
N Engl J Med 2013 Aug 29;369(9):819-29. doi: 10.1056/NEJMoa1208760. PMID: 23984729
Jucker M, Heppner FL
Neuron 2008 Jul 10;59(1):8-10. doi: 10.1016/j.neuron.2008.06.014. PMID: 18614025Free PMC Article
Lechapt-Zalcman E, Authier FJ, Creange A, Voisin MC, Gherardi RK
Muscle Nerve 1999 Jan;22(1):105-7. doi: 10.1002/(sici)1097-4598(199901)22:1<105::aid-mus15>3.0.co;2-o. PMID: 9883863

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