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Machado-Joseph disease type 1

MedGen UID:
155610
Concept ID:
C0751668
Disease or Syndrome
Synonyms: Machado Joseph Disease Type I; Machado-Joseph Disease Type I; Type I Machado Joseph Disease; Type I Machado-Joseph Disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0017174
Orphanet: ORPHA276238

Definition

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMachado-Joseph disease type 1
Follow this link to review classifications for Machado-Joseph disease type 1 in Orphanet.

Professional guidelines

PubMed

Du YC, Dong Y, Cheng HL, Li QF, Yang L, Shao YR, Ma Y, Ni W, Gan SR, Wu ZY
Parkinsonism Relat Disord 2020 Sep;78:116-121. Epub 2020 Aug 4 doi: 10.1016/j.parkreldis.2020.07.024. PMID: 32814229
Wu YL, Chang JC, Lin WY, Li CC, Hsieh M, Chen HW, Wang TS, Liu CS, Liu KL
Sci Rep 2017 Sep 14;7(1):11641. doi: 10.1038/s41598-017-11839-0. PMID: 28912527Free PMC Article
Tan S, Wang RH, Niu HX, Shi CH, Mao CY, Zhang R, Song B, Sun SL, Liu XJ, Hou HM, Liu YT, Gao Y, Fang H, Kong XD, Xu YM
Chin Med J (Engl) 2015 Feb 5;128(3):291-4. doi: 10.4103/0366-6999.150087. PMID: 25635421Free PMC Article

Recent clinical studies

Etiology

Koppenol R, Conceição A, Afonso IT, Afonso-Reis R, Costa RG, Tomé S, Teixeira D, da Silva JP, Côdesso JM, Brito DVC, Mendonça L, Marcelo A, Pereira de Almeida L, Matos CA, Nóbrega C
Brain 2023 Jun 1;146(6):2346-2363. doi: 10.1093/brain/awac473. PMID: 36511898Free PMC Article
Vasconcelos-Ferreira A, Carmo-Silva S, Codêsso JM, Silva P, Martinez ARM, França MC Jr, Nóbrega C, Pereira de Almeida L
Neuropathol Appl Neurobiol 2022 Feb;48(1):e12763. Epub 2021 Oct 13 doi: 10.1111/nan.12763. PMID: 34432315
COVIDSurg Collaborative, GlobalSurg Collaborative
Br J Surg 2021 Sep 27;108(9):1056-1063. doi: 10.1093/bjs/znab101. PMID: 33761533Free PMC Article
Alonso-Navarro H, García-Martín E, Agúndez JAG, Jiménez-Jiménez FJ
Neurology 2019 May 14;92(20):948-964. Epub 2019 Apr 19 doi: 10.1212/WNL.0000000000007500. PMID: 31004074
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Diagnosis

COVIDSurg Collaborative, GlobalSurg Collaborative
Br J Surg 2021 Sep 27;108(9):1056-1063. doi: 10.1093/bjs/znab101. PMID: 33761533Free PMC Article
Silva GM, Pedroso JL, Dos Santos DF, Braga-Neto P, Do Prado LB, De Carvalho LB, Barsottini OG, Do Prado GF
J Sleep Res 2016 Feb;25(1):11-5. doi: 10.1111/jsr.12330. PMID: 26359123
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Bettencourt C, Lima M
Orphanet J Rare Dis 2011 Jun 2;6:35. doi: 10.1186/1750-1172-6-35. PMID: 21635785Free PMC Article
Subramony SH
Curr Opin Neurol 1994 Aug;7(4):316-22. doi: 10.1097/00019052-199408000-00007. PMID: 7952239

Therapy

Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators
Neurology 2023 Apr 25;100(17):e1836-e1848. Epub 2023 Feb 16 doi: 10.1212/WNL.0000000000207088. PMID: 36797067Free PMC Article
Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L
Sci Transl Med 2020 Oct 21;12(566) doi: 10.1126/scitranslmed.abb7086. PMID: 33087504Free PMC Article
França C, de Andrade DC, Silva V, Galhardoni R, Barbosa ER, Teixeira MJ, Cury RG
Parkinsonism Relat Disord 2020 Nov;80:1-6. Epub 2020 Sep 6 doi: 10.1016/j.parkreldis.2020.09.001. PMID: 32920321
Silva-Fernandes A, Duarte-Silva S, Neves-Carvalho A, Amorim M, Soares-Cunha C, Oliveira P, Thirstrup K, Teixeira-Castro A, Maciel P
Neurotherapeutics 2014 Apr;11(2):433-49. doi: 10.1007/s13311-013-0255-9. PMID: 24477711Free PMC Article
Alves S, Régulier E, Nascimento-Ferreira I, Hassig R, Dufour N, Koeppen A, Carvalho AL, Simões S, de Lima MC, Brouillet E, Gould VC, Déglon N, de Almeida LP
Hum Mol Genet 2008 Jul 15;17(14):2071-83. Epub 2008 Apr 1 doi: 10.1093/hmg/ddn106. PMID: 18385100

Prognosis

Peng L, Peng Y, Chen Z, Wang C, Long Z, Peng H, Shi Y, Shen L, Xia K, Leotti VB, Jardim LB, Tang B, Qiu R, Jiang H
J Transl Med 2022 May 14;20(1):226. doi: 10.1186/s12967-022-03428-1. PMID: 35568848Free PMC Article
Garcia-Moreno H, Prudencio M, Thomas-Black G, Solanky N, Jansen-West KR, Hanna Al-Shaikh R, Heslegrave A, Zetterberg H, Santana MM, Pereira de Almeida L, Vasconcelos-Ferreira A, Januário C, Infante J, Faber J, Klockgether T, Reetz K, Raposo M, Ferreira AF, Lima M, Schöls L, Synofzik M, Hübener-Schmid J, Puschmann A, Gorcenco S, Wszolek ZK, Petrucelli L, Giunti P
Eur J Neurol 2022 Aug;29(8):2439-2452. Epub 2022 May 26 doi: 10.1111/ene.15373. PMID: 35478426Free PMC Article
Faber J, Schaprian T, Berkan K, Reetz K, França MC Jr, de Rezende TJR, Hong J, Liao W, van de Warrenburg B, van Gaalen J, Durr A, Mochel F, Giunti P, Garcia-Moreno H, Schoels L, Hengel H, Synofzik M, Bender B, Oz G, Joers J, de Vries JJ, Kang JS, Timmann-Braun D, Jacobi H, Infante J, Joules R, Romanzetti S, Diedrichsen J, Schmid M, Wolz R, Klockgether T
Mov Disord 2021 Oct;36(10):2273-2281. Epub 2021 May 5 doi: 10.1002/mds.28610. PMID: 33951232Free PMC Article
Leotti VB, de Vries JJ, Oliveira CM, de Mattos EP, Te Meerman GJ, Brunt ER, Kampinga HH, Jardim LB, Verbeek DS
Ann Neurol 2021 Jan;89(1):66-73. Epub 2020 Oct 7 doi: 10.1002/ana.25919. PMID: 32978817
Shi Z, Chen J, Zhang X, Chu J, Han Z, Xu D, Gan S, Pan X, Ye J, Cui X
Biochem Biophys Res Commun 2018 Sep 3;503(1):391-396. Epub 2018 Jun 18 doi: 10.1016/j.bbrc.2018.06.047. PMID: 29902454

Clinical prediction guides

de Oliveira CM, Leotti VB, Polita S, Anes M, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Duarte JA, Saraiva-Pereira ML, Junior MCF, Rezende TJR, Jardim LB
J Neurol 2023 Sep;270(9):4276-4287. Epub 2023 May 16 doi: 10.1007/s00415-023-11763-6. PMID: 37193796Free PMC Article
Chen Z, Liao G, Wan N, He Z, Chen D, Tang Z, Long Z, Zou G, Peng L, Wan L, Wang C, Peng H, Shi Y, Tang Y, Li J, Li Y, Long T, Hou X, He L, Qiu R, Chen D, Wang J, Guo J, Shen L, Huang Y, Ashizawa T, Klockgether T, Tang B, Zhou M, Hu S, Jiang H
Mov Disord 2023 Jun;38(6):978-989. Epub 2023 Apr 6 doi: 10.1002/mds.29395. PMID: 37023261
Peng L, Peng Y, Chen Z, Wang C, Long Z, Peng H, Shi Y, Shen L, Xia K, Leotti VB, Jardim LB, Tang B, Qiu R, Jiang H
J Transl Med 2022 May 14;20(1):226. doi: 10.1186/s12967-022-03428-1. PMID: 35568848Free PMC Article
Garcia-Moreno H, Prudencio M, Thomas-Black G, Solanky N, Jansen-West KR, Hanna Al-Shaikh R, Heslegrave A, Zetterberg H, Santana MM, Pereira de Almeida L, Vasconcelos-Ferreira A, Januário C, Infante J, Faber J, Klockgether T, Reetz K, Raposo M, Ferreira AF, Lima M, Schöls L, Synofzik M, Hübener-Schmid J, Puschmann A, Gorcenco S, Wszolek ZK, Petrucelli L, Giunti P
Eur J Neurol 2022 Aug;29(8):2439-2452. Epub 2022 May 26 doi: 10.1111/ene.15373. PMID: 35478426Free PMC Article
Lin J, Zhang L, Cao B, Wei Q, Ou R, Hou Y, Xu X, Liu K, Gu X, Shang H
BMC Neurol 2021 Jan 19;21(1):28. doi: 10.1186/s12883-021-02057-3. PMID: 33468086Free PMC Article

Recent systematic reviews

Navarro-Compán V, Boel A, Boonen A, Mease P, Landewé R, Kiltz U, Dougados M, Baraliakos X, Bautista-Molano W, Carlier H, Chiowchanwisawakit P, Dagfinrud H, de Peyrecave N, El-Zorkany B, Fallon L, Gaffney K, Garrido-Cumbrera M, Gensler LS, Haroon N, Kwan YH, Machado PM, Maksymowych WP, Poddubnyy D, Protopopov M, Ramiro S, Shea B, Song IH, van Weely S, van der Heijde D
Semin Arthritis Rheum 2021 Dec;51(6):1342-1349. Epub 2021 Aug 1 doi: 10.1016/j.semarthrit.2021.07.021. PMID: 34489113
Sena LS, Dos Santos Pinheiro J, Saraiva-Pereira ML, Jardim LB
Clin Genet 2021 Mar;99(3):347-358. Epub 2020 Dec 2 doi: 10.1111/cge.13888. PMID: 33219521
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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