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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

Watchon M, Wright AL, Ahel HI, Robinson KJ, Plenderleith SK, Kuriakose A, Yuan KC, Laird AS
Mol Brain 2024 Mar 5;17(1):15. doi: 10.1186/s13041-024-01085-7. PMID: 38443995Free PMC Article
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
Rivaud-Pechoux S, Dürr A, Gaymard B, Cancel G, Ploner CJ, Agid Y, Brice A, Pierrot-Deseilligny C
Ann Neurol 1998 Mar;43(3):297-302. doi: 10.1002/ana.410430306. PMID: 9506545

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
Rossing P, Burgess E, Agarwal R, Anker SD, Filippatos G, Pitt B, Ruilope LM, Gillard P, MacIsaac RJ, Wainstein J, Joseph A, Brinker M, Roessig L, Scott C, Bakris GL; FIDELIO-DKD Investigators
Diabetes Care 2022 Apr 1;45(4):888-897. doi: 10.2337/dc21-1944. PMID: 35061867Free PMC Article
COVIDSurg Collaborative, GlobalSurg Collaborative
Br J Surg 2021 Sep 27;108(9):1056-1063. doi: 10.1093/bjs/znab101. PMID: 33761533Free PMC Article
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Teive HA
Arq Neuropsiquiatr 2009 Dec;67(4):1133-42. PMID: 20069236

Diagnosis

Cornejo-Olivas M, Solis-Ponce L, Araujo-Aliaga I, Milla-Neyra K, Ortega O, Illanes-Manrique M, Mazzetti P, Manrique-Enciso C, Cubas-Montecino D, Saraiva-Pereira ML, Jardim LB, Sarapura-Castro E
Cerebellum 2023 Dec;22(6):1192-1199. Epub 2022 Nov 3 doi: 10.1007/s12311-022-01491-4. PMID: 36323979
Miranda CO, Nobre RJ, Paiva VH, Duarte JV, Castelhano J, Petrella LI, Sereno J, Santana M, Afonso S, Januário C, Castelo-Branco M, de Almeida LP
Acta Neuropathol Commun 2022 Mar 19;10(1):37. doi: 10.1186/s40478-022-01329-4. PMID: 35305685Free PMC Article
COVIDSurg Collaborative, GlobalSurg Collaborative
Br J Surg 2021 Sep 27;108(9):1056-1063. doi: 10.1093/bjs/znab101. PMID: 33761533Free PMC Article
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
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, 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
de Oliveira CM, Leotti VB, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Saraiva-Pereira ML, Jardim LB
Mov Disord 2023 Jan;38(1):26-34. Epub 2022 Sep 21 doi: 10.1002/mds.29226. PMID: 36129443
Rossing P, Burgess E, Agarwal R, Anker SD, Filippatos G, Pitt B, Ruilope LM, Gillard P, MacIsaac RJ, Wainstein J, Joseph A, Brinker M, Roessig L, Scott C, Bakris GL; FIDELIO-DKD Investigators
Diabetes Care 2022 Apr 1;45(4):888-897. doi: 10.2337/dc21-1944. PMID: 35061867Free 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
Nóbrega C, Codêsso JM, Mendonça L, Pereira de Almeida L
Hum Gene Ther 2019 Jul;30(7):841-854. Epub 2019 May 28 doi: 10.1089/hum.2018.157. PMID: 30760052

Prognosis

de Oliveira CM, Leotti VB, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Saraiva-Pereira ML, Jardim LB
Mov Disord 2023 Jan;38(1):26-34. Epub 2022 Sep 21 doi: 10.1002/mds.29226. PMID: 36129443
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
Hengel H, Martus P, Faber J, Garcia-Moreno H, Solanky N, Giunti P, Klockgether T, Reetz K, van de Warrenburg BP, Pereira de Almeida L, Santana MM, Januário C, Silva P, Thieme A, Infante J, de Vries J, Lima M, Ferreira AF, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M, Schöls L
Mov Disord 2022 Feb;37(2):405-410. Epub 2021 Oct 29 doi: 10.1002/mds.28844. PMID: 34713931
da Silva Carvalho G, Saute JA, Haas CB, Torrez VR, Brochier AW, Souza GN, Furtado GV, Gheno T, Russo A, Monte TL, Schumacher-Schuh A, D'Avila R, Donis KC, Castilhos RM, Souza DO, Saraiva-Pereira ML, Torman VL, Camey S, Portela LV, Jardim LB
Cerebellum 2016 Aug;15(4):518-25. doi: 10.1007/s12311-015-0719-z. PMID: 26395908
Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R
Acta Neurol Scand 2001 Oct;104(4):224-31. doi: 10.1034/j.1600-0404.2001.00020.x. PMID: 11589651

Clinical prediction guides

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
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, 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
Miranda CO, Nobre RJ, Paiva VH, Duarte JV, Castelhano J, Petrella LI, Sereno J, Santana M, Afonso S, Januário C, Castelo-Branco M, de Almeida LP
Acta Neuropathol Commun 2022 Mar 19;10(1):37. doi: 10.1186/s40478-022-01329-4. PMID: 35305685Free PMC Article
Moscovich M, Munhoz RP, Moro A, Raskin S, McFarland K, Ashizawa T, Teive HAG, Silveira-Moriyama L
Cerebellum 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1. PMID: 29922950Free PMC Article
Bettencourt C, Lima M
Orphanet J Rare Dis 2011 Jun 2;6:35. doi: 10.1186/1750-1172-6-35. PMID: 21635785Free 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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