|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Patients presenting both types of ataxia did not show severe depletion in their nutritional status; however, those with SCA3 displayed greater weight loss and muscle mass reduction compared to the SCA10 group.
|
30526208 |
2019 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) are two common autosomal-dominant inherited ataxia syndromes, both of which are related to the unstable expansion of trinucleotide CAG repeats in the coding region of the related ATXN2 and ATXN3 genes, respectively.
|
26861241 |
2017 |
|
Ataxia
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Here we investigated the ability of caffeine to alleviate behavioral deficits and cerebellar neuropathology in transgenic mice with a severe ataxia resulting from expression of a truncated fragment of polyglutamine-expanded ataxin-3 in Purkinje cells.
|
28032667 |
2017 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
We found that SCA3/MJD was the most common subtype in Han population in China, and the ratio of the pontine tegmentum and the posterior fossa area was negatively correlated with the number of cytosine-adenine-guanine (CAG) repeats; the disease duration was positively correlated with the International Cooperative Ataxia Rating Scale score; and the CAG repeats number of abnormal alleles was negatively correlated with the age of onset.
|
26112709 |
2015 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Overexpression of mutant ataxin-3 in mouse cerebellum induces ataxia and cerebellar neuropathology.
|
23242710 |
2013 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with SCA-ataxia (SCA2, SCA3) and Mito-ataxia (MELAS, MERRF, LHON, maternal inherited hearing impairment mtDNA A1555G mutation) were recruited in this study.
|
23031666 |
2012 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The single patient with SCA3 showed ataxia.
|
21334959 |
2011 |
|
Ataxia
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Machado-Joseph disease (MJD), the most common dominantly inherited ataxia worldwide, is caused by a polyglutamine (polyQ) expansion in the deubiquitinating (DUB) enzyme ataxin-3.
|
20940148 |
2011 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The severity of ataxia was measured using the International Cooperative Ataxia Rating Scale (IARS) in 31 patients of SCA1 (mean+/-SD age: 35.1+/-12.6 years; age at onset (AAO): 29.9+/-10.7 years), 25 patients of SCA2 (age: 34.9+/-14.9 years; AAO: 29.7+/-14.0 years) and 15 patients of SCA3 (age: 40.9+/-8.6 years; AAO: 36.9+/-10.1).
|
19049837 |
2009 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In the ataxia group, we found (CAG)n above the range of the asymptomatic blood donors in SCA3 (21.74%) followed by SCA2 (5.22%), SCA7 (2.61%), SCA6 (0.87%), and no cases of SCA1.
|
20069235 |
2009 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Our study suggests that polyglutamine-expanded ataxin-3 causes cerebellar dysfunction and ataxia by disrupting the normal pattern of gene transcriptions.
|
18502140 |
2008 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India.
|
18160752 |
2007 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We report two patients who developed other causes of ataxia in the setting of SCA-3 and SCA-8 mutations, respectively.
|
16621237 |
2007 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Q71 transgenic mice expressing mutant ataxin-3 mjd1a above a critical level developed a phenotype similar to MJD including progressive postural instability, gait and limb ataxia, weight loss, premature death, neuronal intranuclear inclusions, and decreased tyrosine hydroxylase-positive neurons in the substantia nigra (determined by unbiased stereology).
|
15537899 |
2004 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
SCA3 or Machado-Joseph disease (MJD) is the commonest dominant inherited ataxia disease, with pathological phenotypes apparent with a CAG triplet repeat length of 61-84.
|
14679302 |
2004 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Genotype analysis revealed 4 families with SCA2 genotype, 5 families with SCA3 and 3 families where genotypic characterization could not be made (phenotypically 2 were of ADCA I and 1 of ADCA II).
|
14571010 |
2003 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
We have previously shown in several pedigrees that SCA-2 and SCA-3 can cause both parkinsonism and typical Parkinson's disease in the absence of prominent ataxia; a finding which has been confirmed by others.
|
12853230 |
2003 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Patients with ataxia should be tested for SCA2 and SCA3.
|
11804332 |
2001 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
MJD is the most frequent dominant ataxia and an incapacitating disorder.
|
9664608 |
1998 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
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 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
To assess the frequency of the SCA1 and MJD trinucleotide repeat expansions among individuals diagnosed with ataxia we have collected DNA from individuals representing 311 families with adult-onset ataxia of unknown etiology and screened these samples for trinucleotide repeat expansions within the SCA1 and MJD genes.
|
7668288 |
1995 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|