|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families.
|
26538302 |
2016 |
|
Dentatorubral-Pallidoluysian Atrophy
|
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 |
|
Dentatorubral-Pallidoluysian Atrophy
|
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 |
|
Dentatorubral-Pallidoluysian Atrophy
|
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 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
In Nagano, 16q22-linked ADCA appears to be much more prevalent than either SCA6 or dentatorubral-pallidoluysian atrophy (DRPLA), and may explain the high frequency of spinocerebellar ataxia.
|
16614795 |
2006 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among the dominant families, SCA1 accounted for 3%, SCA2 for 4%, SCA3/MJD for 24%, SCA6 for 31% and DRPLA for 12%.
|
12542511 |
2003 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
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 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency of SCA subtypes in autosomal dominant group was: 1) 5.5% for SCA1; 2) 2.4% for SCA2; 3) 27.6% for MJD/SCA3; 4) 25.5% for SCA6; 5) 0.3% for SCA17; and 6) 7.3% for DRPLA.
|
12116198 |
2002 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, the transglutaminase activity has been hypothesized to be involved in the pathogenetic mechanisms responsible for the formation of cellular inclusions present in Huntington disease and in all the other polyglutamine (polyQ) diseases hitherto identified, such as spinobulbar muscular atrophy or Kennedy disease, spinocerebellar ataxias (SCA-1, SCA-2, SCA-3 or Machado-Joseph disease, SCA-6 and SCA-7) and dentatorubropallidoluysian atrophy.
|
11719247 |
2002 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Machado-Joseph disease was identified in 41.3% of the cases, SCA6 17.2%, dentatorubral-pallidoluysian atrophy (DRPLA) 6.9% and unknown 34.5%.
|
11846212 |
2001 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common cause of inherited SCA was a mutation at the SCA6 locus (25%), followed by mutation at the SCA1 locus (15%), SCA3 locus (5%) and dentatorubral-pallidoluysian atrophy locus (5%).
|
11359084 |
2001 |
|
Dentatorubral-Pallidoluysian Atrophy
|
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 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
At present, eight different genes causing ADCAs have been found: spinocerebeller ataxia type 1 (SCA1), SCA2, SCA3/Machado-Joseph disease (MJD), SCA6, SCA7, SCA8, SCA12 and dentatorubropallidoluysian atrophy (DRPLA).
|
11018707 |
2000 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
To assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, and DRPLA (dentatorubropallidoluysian atrophy) CAG trinucleotide repeat expansions [(CAG)n] among persons diagnosed with hereditary SCA from Chinese families.
|
10768629 |
2000 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the frequency and characteristics of sporadic SCAs, we screened 85 Japanese ataxia patients without a family history for the SCA1, SCA2, SCA3, SCA6 and DRPLA mutations.
|
9696528 |
1998 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The relative prevalences of MJD/SCA3, SCA6, and DRPLA were significantly higher in Japanese pedigrees (43%, 11%, and 20%, respectively) than in Caucasian pedigrees (30%, 5%, and 0%, respectively), corresponding to the observation that the frequencies of large ANs of MJD/SCA3 (>27 repeats), SCA6 (>13 repeats), and DRPLA (>17 repeats) were significantly higher in Japanese than in Caucasians.
|
9758625 |
1998 |