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Machado-Joseph disease type 3

MedGen UID:
155611
•Concept ID:
C0751670
•
Disease or Syndrome
Synonyms: Machado Joseph Disease Type III; Machado-Joseph Disease Type III; Type III Machado Joseph Disease; Type III 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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017176
Orphanet: ORPHA276244

Definition

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMachado-Joseph disease type 3
Follow this link to review classifications for Machado-Joseph disease type 3 in Orphanet.

Professional guidelines

PubMed

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG)(n) Repeat Expansion.
Lian M, Tan VJ, Taguchi R, Zhao M, Phang GP, Tan AS, Liu S, Lee CG, Chong SS
Int J Mol Sci 2024 Jul 24;25(15) doi: 10.3390/ijms25158073. PMID: 39125643Free PMC Article

Recent clinical studies

Etiology

Outcomes with Finerenone in Participants with Stage 4 CKD and Type 2 Diabetes: A FIDELITY Subgroup Analysis.
Sarafidis P, Agarwal R, Pitt B, Wanner C, Filippatos G, Boletis J, Tuttle KR, Ruilope LM, Rossing P, Toto R, Anker SD, Liu ZH, Joseph A, Ahlers C, Brinker M, Lawatscheck R, Bakris G; FIDELIO-DKD and FIGARO-DKD Investigators
Clin J Am Soc Nephrol 2023 May 1;18(5):602-612. Epub 2023 Apr 7 doi: 10.2215/CJN.0000000000000149. PMID: 36927680Free PMC Article
The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits.
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
Pharmacological Therapies for Machado-Joseph Disease.
Duarte-Silva S, Maciel P
Adv Exp Med Biol 2018;1049:369-394. doi: 10.1007/978-3-319-71779-1_19. PMID: 29427114
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Spinocerebellar ataxias.
Teive HA
Arq Neuropsiquiatr 2009 Dec;67(4):1133-42. PMID: 20069236

Diagnosis

Planning Future Clinical Trials for Machado-Joseph Disease.
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112
Polyglutamine-Independent Features in Ataxin-3 Aggregation and Pathogenesis of Machado-Joseph Disease.
Carvalho AL, Silva A, Macedo-Ribeiro S
Adv Exp Med Biol 2018;1049:275-288. doi: 10.1007/978-3-319-71779-1_14. PMID: 29427109
Clinical Features of Machado-Joseph Disease.
Mendonça N, França MC Jr, Gonçalves AF, Januário C
Adv Exp Med Biol 2018;1049:255-273. doi: 10.1007/978-3-319-71779-1_13. PMID: 29427108
NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation.
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
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Therapy

Outcomes with Finerenone in Participants with Stage 4 CKD and Type 2 Diabetes: A FIDELITY Subgroup Analysis.
Sarafidis P, Agarwal R, Pitt B, Wanner C, Filippatos G, Boletis J, Tuttle KR, Ruilope LM, Rossing P, Toto R, Anker SD, Liu ZH, Joseph A, Ahlers C, Brinker M, Lawatscheck R, Bakris G; FIDELIO-DKD and FIGARO-DKD Investigators
Clin J Am Soc Nephrol 2023 May 1;18(5):602-612. Epub 2023 Apr 7 doi: 10.2215/CJN.0000000000000149. PMID: 36927680Free PMC Article
Recent therapeutic prospects for Machado-Joseph disease.
Costa MDC
Curr Opin Neurol 2020 Aug;33(4):519-526. doi: 10.1097/WCO.0000000000000832. PMID: 32657894
Pharmacological Therapies for Machado-Joseph Disease.
Duarte-Silva S, Maciel P
Adv Exp Med Biol 2018;1049:369-394. doi: 10.1007/978-3-319-71779-1_19. PMID: 29427114
Planning Future Clinical Trials for Machado-Joseph Disease.
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112
Clinical Features of Machado-Joseph Disease.
Mendonça N, França MC Jr, Gonçalves AF, Januário C
Adv Exp Med Biol 2018;1049:255-273. doi: 10.1007/978-3-319-71779-1_13. PMID: 29427108

Prognosis

Altered retinal structure and function in Spinocerebellar ataxia type 3.
Toulis V, Casaroli-Marano R, Camós-Carreras A, Figueras-Roca M, Sánchez-Dalmau B, Muñoz E, Ashraf NS, Ferreira AF, Khan N, Marfany G, Costa MDC
Neurobiol Dis 2022 Aug;170:105774. Epub 2022 May 21 doi: 10.1016/j.nbd.2022.105774. PMID: 35605759
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
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
The Role of MicroRNAs in Spinocerebellar Ataxia Type 3.
Krauss S, Evert BO
J Mol Biol 2019 Apr 19;431(9):1729-1742. Epub 2019 Jan 18 doi: 10.1016/j.jmb.2019.01.019. PMID: 30664869
Pharmacological Therapies for Machado-Joseph Disease.
Duarte-Silva S, Maciel P
Adv Exp Med Biol 2018;1049:369-394. doi: 10.1007/978-3-319-71779-1_19. PMID: 29427114
Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.
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

Clinical prediction guides

Outcomes with Finerenone in Participants with Stage 4 CKD and Type 2 Diabetes: A FIDELITY Subgroup Analysis.
Sarafidis P, Agarwal R, Pitt B, Wanner C, Filippatos G, Boletis J, Tuttle KR, Ruilope LM, Rossing P, Toto R, Anker SD, Liu ZH, Joseph A, Ahlers C, Brinker M, Lawatscheck R, Bakris G; FIDELIO-DKD and FIGARO-DKD Investigators
Clin J Am Soc Nephrol 2023 May 1;18(5):602-612. Epub 2023 Apr 7 doi: 10.2215/CJN.0000000000000149. PMID: 36927680Free PMC Article
Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado-Joseph Disease through Integration of Pathological Biomarkers and Therapeutic Strategies.
Chen YS, Hong ZX, Lin SZ, Harn HJ
Int J Mol Sci 2020 Apr 26;21(9) doi: 10.3390/ijms21093063. PMID: 32357546Free PMC Article
Machado-Joseph Disease: A Stress Combating Deubiquitylating Enzyme Changing Sides.
Dantuma NP, Herzog LK
Adv Exp Med Biol 2020;1233:237-260. doi: 10.1007/978-3-030-38266-7_10. PMID: 32274760
Planning Future Clinical Trials for Machado-Joseph Disease.
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112
Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence.
Donis KC, Saute JA, Krum-Santos AC, Furtado GV, Mattos EP, Saraiva-Pereira ML, Torman VL, Jardim LB
Neurogenetics 2016 Apr;17(2):107-13. Epub 2016 Jan 16 doi: 10.1007/s10048-016-0473-5. PMID: 26780339

Recent systematic reviews

Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment.
Soto-Piña AE, Pulido-Alvarado CC, Dulski J, Wszolek ZK, Magaña JJ
Int J Mol Sci 2024 Jul 24;25(15) doi: 10.3390/ijms25158074. PMID: 39125644Free PMC Article
The ASAS-OMERACT core domain set for axial spondyloarthritis.
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
Selective forces acting on spinocerebellar ataxia type 3/Machado-Joseph disease recurrency: A systematic review and meta-analysis.
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
Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis.
de Mattos EP, Kolbe Musskopf M, Bielefeldt Leotti V, Saraiva-Pereira ML, Jardim LB
J Neurol Neurosurg Psychiatry 2019 Feb;90(2):203-210. Epub 2018 Oct 18 doi: 10.1136/jnnp-2018-319200. PMID: 30337442
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
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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