Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our study provides supporting evidence that mild expansions of ATXN2 may have modifying effects on SCA3 phenotype.
|
30920184 |
2019 |
Machado-Joseph Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nonmotor symptoms, including impaired cognition (6.1% of SCA2 and 8.3% of SCA3 patients) and depression (9.1% of SCA2 and 8.3% of SCA3 patients), were also common nonataxic features in our SCA patients.
|
31523939 |
2019 |
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 |
AlteredExpression
|
disease |
BEFREE |
Re-establishment of ataxin-2 levels reduces mutant ataxin-3 and alleviates Machado-Joseph disease pathogenesis opening a new avenue for therapeutic intervention in this and potentially other polyQ disorders.
|
26490332 |
2015 |
Machado-Joseph Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
|
26077168 |
2015 |
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our observation that lesions of the motor territory of the subthalamic nucleus were consistently associated with the prevention of parkinsonism in our SCA2 and SCA3 patients matches the clinical experience that selective targeting of the motor territory of the subthalamic nucleus by focal lesions or deep brain stimulation can ameliorate parkinsonian motor features and is likely to counteract the manifestation of parkinsonism in SCA2 and SCA3 despite a severe neurodegeneration of the dopaminergic substantia nigra.
|
26362908 |
2015 |
Machado-Joseph Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Except for individuals with spinocerebellar ataxia type 1, age at onset was also influenced by other (CAG)n-containing genes: ATXN7 in spinocerebellar ataxia type 2; ATXN2, ATN1 and HTT in spinocerebellar ataxia type 3; ATXN1 and ATXN3 in spinocerebellar ataxia type 6; and ATXN3 and TBP in spinocerebellar ataxia type 7.
|
24972706 |
2014 |
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Surprisingly, SCA6 patients often had age at onset and phenotypes indistinguishable from SCA1, SCA2 and MJD.
|
24708620 |
2014 |
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2).
|
22042177 |
2011 |
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We examined 10 SCA2 and 12 SCA3 patients by electromyography, electroneurography motor and sensory, multimodal evoked potentials, transcranial magnetic stimulation, blink reflex and masseter reflex.
|
21163215 |
2011 |
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 |
Recent reports of SCA2 and SCA3 patients who presented with levodopa responsive parkinsonism have generated considerable interest as they have implications for genetic testing.
|
16687213 |
2006 |
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study was to further assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17 and DRPLA (dentatorubro-pallidoluysian atrophy) in mainland Chinese, and to specifically characterize mainland Chinese patients with SCA6 in terms of clinical and molecular features.
|
15989765 |
2005 |
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 |
We found a significant reduction of intracortical facilitation in SCA2 and SCA3 patients.
|
11844730 |
2002 |
Machado-Joseph Disease
|
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 |
Machado-Joseph Disease
|
0.100 |
GeneticVariation
|
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 |
Biomarker
|
disease |
BEFREE |
Reduced saccade velocity and the absence of both square-wave jerks and gaze-evoked nystagmus allow one SCA2 to be distinguished from SCA3 patients in almost all cases.
|
10525976 |
1999 |
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
A set of three morphological criteria was defined that enabled us to assign all SCA2 and SCA3 patients correctly to the underlying genotype.
|
9762957 |
1998 |
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 |
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Evidence for heterogeneity in families not linked to the SCA1, SCA2 and MJD loci is provided by the mapping of SCA loci to chromosomes 16q, 11cen and 3p.
|
9225982 |
1997 |
Machado-Joseph Disease
|
0.100 |
GeneticVariation
|
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 |
Machado-Joseph Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings provide electrophysiological evidence that pyramidal and visual pathways are differentially affected in SCA1, SCA2 and SCA3 patients.
|
9448569 |
1997 |