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Page 1
Machado-Joseph disease/spinocerebellar ataxia type 3.
Paulson H. Paulson H. Handb Clin Neurol. 2012;103:437-49. doi: 10.1016/B978-0-444-51892-7.00027-9. Handb Clin Neurol. 2012. PMID: 21827905 Free PMC article. Review.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. ...The specific properties of MJD/SCA3 and its disease protein are discussed in light of what is known ab …
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inh …
Spinocerebellar ataxia.
Klockgether T, Mariotti C, Paulson HL. Klockgether T, et al. Nat Rev Dis Primers. 2019 Apr 11;5(1):24. doi: 10.1038/s41572-019-0074-3. Nat Rev Dis Primers. 2019. PMID: 30975995 Review.
Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease (MJD), and rare SCAs that are caused by non-repeat mutations, such as SCA5. ...However, the development of effective therapies is hampered by the heterogeneity of the …
Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease (MJD), and rare SCAs that a …
Polyglutamine (PolyQ) diseases: genetics to treatments.
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ. Fan HC, et al. Cell Transplant. 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. Cell Transplant. 2014. PMID: 24816443 Free article. Review.
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease (MJD/SCA3); Huntington's disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar musc …
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Jose …
The neuroprotective effects of caffeine in neurodegenerative diseases.
Kolahdouzan M, Hamadeh MJ. Kolahdouzan M, et al. CNS Neurosci Ther. 2017 Apr;23(4):272-290. doi: 10.1111/cns.12684. CNS Neurosci Ther. 2017. PMID: 28317317 Free PMC article. Review.
A study found caffeine to be associated with earlier age of onset of Huntington's disease (HD) at intakes >190 mg/d, but studies in animal models have found equivocal results. ...However, further research is needed to investigate the effects of caffeine on PD in women. …
A study found caffeine to be associated with earlier age of onset of Huntington's disease (HD) at intakes >190 mg/d, but studies i …
Pathogenesis of SCA3 and implications for other polyglutamine diseases.
McLoughlin HS, Moore LR, Paulson HL. McLoughlin HS, et al. Neurobiol Dis. 2020 Feb;134:104635. doi: 10.1016/j.nbd.2019.104635. Epub 2019 Oct 24. Neurobiol Dis. 2020. PMID: 31669734 Free PMC article. Review.
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine (polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective disease genes. The nine known polyQ disease include Huntington's disease (HD), dent …
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine (polyQ) diseases, caused by CAG repeat expansions in t …
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. ...
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/ …
Spinocerebellar ataxias.
Teive HA. Teive HA. Arq Neuropsiquiatr. 2009 Dec;67(4):1133-42. Arq Neuropsiquiatr. 2009. PMID: 20069236 Free article. Review.
RESULTS: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. ...CONCLUSIONS: Detailed clinica …
RESULTS: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common typ …
Degenerative ataxias.
Subramony SH. Subramony SH. Curr Opin Neurol. 1994 Aug;7(4):316-22. doi: 10.1097/00019052-199408000-00007. Curr Opin Neurol. 1994. PMID: 7952239 Review.
Two distinct types of dominantly inherited ataxic syndromes are due to different trinucleotide repeat mutations, one on chromosome 6 (spinocerebellar ataxia type 1) and another on chromosome 12 (dentatorubropallidoluysian atrophy). The genes for Machado-Joseph di …
Two distinct types of dominantly inherited ataxic syndromes are due to different trinucleotide repeat mutations, one on chromosome 6 (spinoc …
Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy.
Matos CA, de Almeida LP, Nóbrega C. Matos CA, et al. J Neurochem. 2019 Jan;148(1):8-28. doi: 10.1111/jnc.14541. Epub 2018 Oct 5. J Neurochem. 2019. PMID: 29959858 Free article. Review.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely regarded as the most common form of spinocerebellar ataxia in the world. ...The current review analyses the available studies dedicated to the i …
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely rega …
Itajai, Santa Catarina - Azorean ancestry and spinocerebellar ataxia type 3.
Teive HA, Moro A, Arruda WO, Raskin S, Teive GM, Dallabrida N, Munhoz RP. Teive HA, et al. Arq Neuropsiquiatr. 2016 Oct;74(10):858-860. doi: 10.1590/0004-282X20160125. Arq Neuropsiquiatr. 2016. PMID: 27759814 Free article. Review.
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajai, a city on the coast of the …
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most co …
158 results