|
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Seven out of 14 CTGexp-positive subjects were also carriers of other SCA expansions [Machado-Joseph disease (n=1), SCA6 (n=3) and SCA31 (n=3)], whereas 7 others were not complicated with such major SCAs.
|
29111027 |
2017 |
|
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
About 50 % of Thai patients with adult-onset spinocerebellar ataxia (SCA) was Machado-Joseph disease (MJD), SCA1, SCA2 and SCA6.
|
26374734 |
2015 |
|
Machado-Joseph Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The study evaluated 83 available families including SCA1 (21 patients), SCA2 (15), MJD (39) and SCA6 (8).
|
24708620 |
2014 |
|
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with progressive cerebellar dysfunction of autosomal dominant transmission underwent a clinical examination protocol and genetic testing for spinocerebellar ataxia (SCA)1 to Machado-Joseph disease (MJD)/SCA3, SCA6, SCA7, SCA10, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy (DRPLA).
|
19659750 |
2010 |
|
Machado-Joseph Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetically confirmed ADCA patients included those with Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3; 63.3%), SCA6 (20.0%), ADCA linked to chromosome 16q22.1 (10.0%), dentatorubral pallidoluysian atrophy (4.4%), SCA1 (1.1%) and SCA2 (1.1%).
|
19169038 |
2009 |
|
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
They include at least nine disorders, including Huntington's disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), spinal and bulbar muscular atrophy (SBMA), and the spinocerebellar ataxias SCA1, SCA2, SCA3 (also known as Machado-Joseph disease), SCA6, SCA7, and SCA17.
|
17786457 |
2008 |
|
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the 686 AD-SCA families, SCA6 and Machado-Joseph disease/SCA3 are frequent subtypes, followed by dentatorubral-pallidoluysian atrophy and 16q-SCA.
|
17357132 |
2007 |
|
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Possibilities of hereditary ataxias, including SCA1 (ataxin 1, ATXN1), SCA2 (ATXN2), Machado-Joseph disease/SCA3 (ATXN1), SCA6 (ATXN1), SCA7 (ATXN7), SCA12 (protein phosphatase 2, regulatory subunit B, beta isoform; PP2R2B), SCA17 (TATA box binding protein, TBP) and DRPLA (atrophin 1; ATN1), were excluded, and no mutations in the alpha-synuclein gene were found.
|
17420317 |
2007 |
|
Machado-Joseph Disease
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.
|
12542511 |
2003 |
|
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype.
|
12614315 |
2003 |
|
Machado-Joseph Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dominantly transmitted cases had (CAG)(n) expansions at the Machado-Joseph disease gene (MJD1) (63%), at SCA2 (3%), the gene for dentatorubropallidoluysian atrophy (DRPLA) (2%), SCA6 (1%), or SCA7 (1%) loci, or (CTG)(n) expansions at the SCA8 (2%) gene, whereas (GAA)(n) expansions in the Freidreich ataxia gene (FRDA) were found in 64% of families with recessive ataxia.
|
11939898 |
2002 |
|
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The frequency of each disorder in a total of 155 unrelated families was 23.9% for Machado-Joseph disease (MJD), 29.0% for SCA6, 9.7% for SCA1, 7.7% for SCA2, and 2.6% for dentatorubral-pallidoluysian atrophy.
|
10785256 |
2000 |
|
Machado-Joseph Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ADCA are genetically heterogeneous disorders with different cloned genes for spinocerebellar ataxia type 1 (SCA1), type 2 (SCA2), type 3 or Machado-Joseph disease (SCA3/MJD), and type 6 (SCA6).
|
9507387 |
1998 |