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 |
Biomarker
|
disease |
BEFREE |
Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17=HDL4).
|
22971727 |
2013 |
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MJD/SCA3 was the most frequent ADCA (26 families, 57.8% of all families), followed by DRPLA (5 families, 11.2%), SCA7 (2 families, 4.4%), SCA2 and SCA1 (1 family each, 2.2% each); 10 families (22.2%) had no molecular diagnosis.
|
19659750 |
2010 |
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 |
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 |
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 |
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
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 |
Machado-Joseph disease-SCA3 was the most common type of autosomal dominant SCA in the Taiwanese cohort, accounting for 35 cases (47.3%), followed by SCA6 (8 [10.8%]), SCA2 (8 [10.8%]), SCA1 (4 [5.4%]), SCA7 (2 [2.7%]), dentatorubropallidoluysian atrophy (1 [1.4%]), and SCA8 (0%).
|
11448300 |
2001 |
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 |
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 |
CAG repeat expansions cause spinocerebellar ataxia type 1 (SCA1), SCA2, SCA3, SCA6 and dentatorubral-pallidoluysian atrophy (DRPLA).
|
9696528 |
1998 |
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
To date, eight different loci causing SCA have been identified: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, SCA6, SCA7, and dentatorubropallidoluysian atrophy (DRPLA).
|
9613852 |
1998 |
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Six inherited neurodegenerative diseases are caused by a CAG/polyglutamine expansion, including spinal and bulbar muscular atrophy (SBMA), Huntington's disease (HD), spinocerebellar ataxia type 1 (SCA1), dentatorubral pallidoluysian atrophy (DRPLA) Machado-Joseph disease (MJD or SCA3) and SCA2.
|
9020849 |
1997 |
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The recent demonstration that spinocerebellar ataxia type 2 (SCA2) is caused by a CAG repeat expansion within the ataxin-2 gene has allowed us to determine the frequency of SCA2 compared with SCA1, SCA3/Machado-Joseph disease (MJD), and dentatorubropallidoluysian atrophy (DRPLA) in patients with sporadic and inherited ataxia.
|
9106530 |
1997 |
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
To date, seven different genes causing autosomal dominant SCA have been mapped: SCA1, SCA2, Machado-Joseph disease (MJD)SCA3, SCA4, SCA5, SCA7 and dentatorubropallidoluysian atrophy (DRPLA).
|
9109985 |
1996 |
Dentatorubral-Pallidoluysian Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Six different genes causing autosomal dominant SCA are mapped: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, and dentatorubropallidoluysian atrophy (DRPLA).
|
8559378 |
1996 |