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Synucleinopathy

MedGen UID:
1682194
Concept ID:
C5191670
Disease or Syndrome
Synonyms: a-Synucleinopathies; a-Synucleinopathy; alpha Synuclein Pathologies; alpha Synuclein Pathology; alpha Synucleinopathies; alpha-Synucleinopathies; alpha-Synucleinopathy; Synucleinopathies
SNOMED CT: Synucleinopathy (785810000); Alpha synucleinopathy (785810000); Alpha synuclein pathology (785810000)
 
Monarch Initiative: MONDO:0000510

Definition

A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ] [from MONDO]

Professional guidelines

PubMed

Bousiges O, Blanc F
Int J Mol Sci 2022 Jun 7;23(12) doi: 10.3390/ijms23126371. PMID: 35742814Free PMC Article
Zuzuárregui JRP, During EH
Neurotherapeutics 2020 Oct;17(4):1480-1494. Epub 2020 Oct 7 doi: 10.1007/s13311-020-00938-y. PMID: 33029723Free PMC Article
Fanning S, Haque A, Imberdis T, Baru V, Barrasa MI, Nuber S, Termine D, Ramalingam N, Ho GPH, Noble T, Sandoe J, Lou Y, Landgraf D, Freyzon Y, Newby G, Soldner F, Terry-Kantor E, Kim TE, Hofbauer HF, Becuwe M, Jaenisch R, Pincus D, Clish CB, Walther TC, Farese RV Jr, Srinivasan S, Welte MA, Kohlwein SD, Dettmer U, Lindquist S, Selkoe D
Mol Cell 2019 Mar 7;73(5):1001-1014.e8. Epub 2018 Dec 4 doi: 10.1016/j.molcel.2018.11.028. PMID: 30527540Free PMC Article

Recent clinical studies

Etiology

Rahayel S, Tremblay C, Vo A, Misic B, Lehéricy S, Arnulf I, Vidailhet M, Corvol JC; ICEBERG Study Group, Gagnon JF, Postuma RB, Montplaisir J, Lewis S, Matar E, Ehgoetz Martens K, Borghammer P, Knudsen K, Hansen AK, Monchi O, Gan-Or Z, Dagher A; Alzheimer’s Disease Neuroimaging Initiative
Brain 2023 Aug 1;146(8):3301-3318. doi: 10.1093/brain/awad044. PMID: 36826230Free PMC Article
Zuzuárregui JRP, During EH
Neurotherapeutics 2020 Oct;17(4):1480-1494. Epub 2020 Oct 7 doi: 10.1007/s13311-020-00938-y. PMID: 33029723Free PMC Article
Hu MT
Neurobiol Dis 2020 Sep;143:104996. Epub 2020 Jun 26 doi: 10.1016/j.nbd.2020.104996. PMID: 32599063
Dauvilliers Y, Schenck CH, Postuma RB, Iranzo A, Luppi PH, Plazzi G, Montplaisir J, Boeve B
Nat Rev Dis Primers 2018 Aug 30;4(1):19. doi: 10.1038/s41572-018-0016-5. PMID: 30166532
Dickson DW
Parkinsonism Relat Disord 2018 Jan;46 Suppl 1(Suppl 1):S30-S33. Epub 2017 Aug 1 doi: 10.1016/j.parkreldis.2017.07.033. PMID: 28780180Free PMC Article

Diagnosis

Bellomo G, De Luca CMG, Paoletti FP, Gaetani L, Moda F, Parnetti L
Neurology 2022 Aug 2;99(5):195-205. Epub 2022 Jun 3 doi: 10.1212/WNL.0000000000200878. PMID: 35914941
Szûcs A, Mutti C, Papp A, Halász P, Parrino L
Ideggyogy Sz 2022 May 30;75(5-06):171-182. doi: 10.18071/isz.75.0171. PMID: 35819343
Sanford AM
Clin Geriatr Med 2018 Nov;34(4):603-615. Epub 2018 Aug 21 doi: 10.1016/j.cger.2018.06.007. PMID: 30336990
Dauvilliers Y, Schenck CH, Postuma RB, Iranzo A, Luppi PH, Plazzi G, Montplaisir J, Boeve B
Nat Rev Dis Primers 2018 Aug 30;4(1):19. doi: 10.1038/s41572-018-0016-5. PMID: 30166532
Mulak A, Bonaz B
World J Gastroenterol 2015 Oct 7;21(37):10609-20. doi: 10.3748/wjg.v21.i37.10609. PMID: 26457021Free PMC Article

Therapy

Zuzuárregui JRP, During EH
Neurotherapeutics 2020 Oct;17(4):1480-1494. Epub 2020 Oct 7 doi: 10.1007/s13311-020-00938-y. PMID: 33029723Free PMC Article
Goya ME, Xue F, Sampedro-Torres-Quevedo C, Arnaouteli S, Riquelme-Dominguez L, Romanowski A, Brydon J, Ball KL, Stanley-Wall NR, Doitsidou M
Cell Rep 2020 Jan 14;30(2):367-380.e7. doi: 10.1016/j.celrep.2019.12.078. PMID: 31940482Free PMC Article
Kim S, Kwon SH, Kam TI, Panicker N, Karuppagounder SS, Lee S, Lee JH, Kim WR, Kook M, Foss CA, Shen C, Lee H, Kulkarni S, Pasricha PJ, Lee G, Pomper MG, Dawson VL, Dawson TM, Ko HS
Neuron 2019 Aug 21;103(4):627-641.e7. Epub 2019 Jun 26 doi: 10.1016/j.neuron.2019.05.035. PMID: 31255487Free PMC Article
Dauvilliers Y, Schenck CH, Postuma RB, Iranzo A, Luppi PH, Plazzi G, Montplaisir J, Boeve B
Nat Rev Dis Primers 2018 Aug 30;4(1):19. doi: 10.1038/s41572-018-0016-5. PMID: 30166532
Caputi V, Giron MC
Int J Mol Sci 2018 Jun 6;19(6) doi: 10.3390/ijms19061689. PMID: 29882798Free PMC Article

Prognosis

Iranzo A, Mammana A, Muñoz-Lopetegi A, Dellavalle S, Mayà G, Rossi M, Serradell M, Baiardi S, Arqueros A, Quadalti C, Perissinotti A, Ruggeri E, Cano JS, Gaig C, Parchi P
Neurology 2023 May 2;100(18):e1944-e1954. Epub 2023 Mar 17 doi: 10.1212/WNL.0000000000207147. PMID: 36931726Free PMC Article
Miglis MG, Adler CH, Antelmi E, Arnaldi D, Baldelli L, Boeve BF, Cesari M, Dall'Antonia I, Diederich NJ, Doppler K, Dušek P, Ferri R, Gagnon JF, Gan-Or Z, Hermann W, Högl B, Hu MT, Iranzo A, Janzen A, Kuzkina A, Lee JY, Leenders KL, Lewis SJG, Liguori C, Liu J, Lo C, Ehgoetz Martens KA, Nepozitek J, Plazzi G, Provini F, Puligheddu M, Rolinski M, Rusz J, Stefani A, Summers RLS, Yoo D, Zitser J, Oertel WH
Lancet Neurol 2021 Aug;20(8):671-684. doi: 10.1016/S1474-4422(21)00176-9. PMID: 34302789Free PMC Article
Alafuzoff I, Hartikainen P
Handb Clin Neurol 2017;145:339-353. doi: 10.1016/B978-0-12-802395-2.00024-9. PMID: 28987181
McCann H, Stevens CH, Cartwright H, Halliday GM
Parkinsonism Relat Disord 2014 Jan;20 Suppl 1:S62-7. doi: 10.1016/S1353-8020(13)70017-8. PMID: 24262191
Braak H, Ghebremedhin E, Rüb U, Bratzke H, Del Tredici K
Cell Tissue Res 2004 Oct;318(1):121-34. Epub 2004 Aug 24 doi: 10.1007/s00441-004-0956-9. PMID: 15338272

Clinical prediction guides

Rahayel S, Tremblay C, Vo A, Misic B, Lehéricy S, Arnulf I, Vidailhet M, Corvol JC; ICEBERG Study Group, Gagnon JF, Postuma RB, Montplaisir J, Lewis S, Matar E, Ehgoetz Martens K, Borghammer P, Knudsen K, Hansen AK, Monchi O, Gan-Or Z, Dagher A; Alzheimer’s Disease Neuroimaging Initiative
Brain 2023 Aug 1;146(8):3301-3318. doi: 10.1093/brain/awad044. PMID: 36826230Free PMC Article
Estaun-Panzano J, Arotcarena ML, Bezard E
Neurobiol Dis 2023 Jan;176:105966. Epub 2022 Dec 15 doi: 10.1016/j.nbd.2022.105966. PMID: 36527982Free PMC Article
Miglis MG, Adler CH, Antelmi E, Arnaldi D, Baldelli L, Boeve BF, Cesari M, Dall'Antonia I, Diederich NJ, Doppler K, Dušek P, Ferri R, Gagnon JF, Gan-Or Z, Hermann W, Högl B, Hu MT, Iranzo A, Janzen A, Kuzkina A, Lee JY, Leenders KL, Lewis SJG, Liguori C, Liu J, Lo C, Ehgoetz Martens KA, Nepozitek J, Plazzi G, Provini F, Puligheddu M, Rolinski M, Rusz J, Stefani A, Summers RLS, Yoo D, Zitser J, Oertel WH
Lancet Neurol 2021 Aug;20(8):671-684. doi: 10.1016/S1474-4422(21)00176-9. PMID: 34302789Free PMC Article
Kim S, Kwon SH, Kam TI, Panicker N, Karuppagounder SS, Lee S, Lee JH, Kim WR, Kook M, Foss CA, Shen C, Lee H, Kulkarni S, Pasricha PJ, Lee G, Pomper MG, Dawson VL, Dawson TM, Ko HS
Neuron 2019 Aug 21;103(4):627-641.e7. Epub 2019 Jun 26 doi: 10.1016/j.neuron.2019.05.035. PMID: 31255487Free PMC Article
Braak H, Ghebremedhin E, Rüb U, Bratzke H, Del Tredici K
Cell Tissue Res 2004 Oct;318(1):121-34. Epub 2004 Aug 24 doi: 10.1007/s00441-004-0956-9. PMID: 15338272

Recent systematic reviews

Bauckneht M, Chincarini A, De Carli F, Terzaghi M, Morbelli S, Nobili F, Arnaldi D
Sleep Med Rev 2018 Oct;41:266-274. Epub 2018 Apr 22 doi: 10.1016/j.smrv.2018.04.001. PMID: 29784534
Malek N, Swallow D, Grosset KA, Anichtchik O, Spillantini M, Grosset DG
Acta Neurol Scand 2014 Aug;130(2):59-72. Epub 2014 Apr 5 doi: 10.1111/ane.12247. PMID: 24702516

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