|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The average age of symptom onset was significantly higher in the parkinsonism group of SCA2 (51.5 ± 8.9 vs. 35.3 ± 12.6 years, p = .007) than those with pure ataxia.
|
31523939 |
2019 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Using mouse models of spinocerebellar ataxia type 1 (SCA1) and 2 (SCA2) we identify an increase in PKC-mediated substrate phosphorylation in two different forms of inherited cerebellar ataxia.
|
29432535 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
This work supports that ELF2 gene regulates the expression of ATXN2 and ELOVL5 genes, and defines new molecular links in the pathophysiology of cerebellar ataxias.
|
29628936 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
We identified a SCA1 intermediate allele in a MSA-C subject (36 CAG), a SCA2 intermediate allele in a MSA-P patient (31 CAG), and a pathologically expanded SCA2 allele (36 CAG) in a patient initially misdiagnosed as MSA-C. No intermediate or expanded SCA alleles were detected in controls.
|
29715545 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia.
|
28462804 |
2017 |
|
Cerebellar Ataxia
|
0.100 |
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 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The CAG-expansion in ATXN2 likely caused the ataxia, whereas the dementia may be linked to both C9orf72 and ATXN2 repeat expansions.
|
28124431 |
2017 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
In SCA2, earlier onset and more severe ataxia were associated with peripheral neuropathy.
|
26054379 |
2016 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
See Klockgether (doi:10.1093/awv253) for a scientific commentary on this article.The spinocerebellar ataxias types 2 (SCA2) and 3 (SCA3) are autosomal dominantly inherited cerebellar ataxias which are caused by CAG trinucleotide repeat expansions in the coding regions of the disease-specific genes.
|
26362908 |
2015 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
We conclude that ATXN2 mutations can cause not only ALS, but also a neuropathological overlap syndrome of SCA2 and FTLD presenting clinically as pure FTLD-ALS without ataxia.
|
24718895 |
2014 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Both our patient with ataxia and her uncle with ALS have full pathological CAG repeat expansions of ATXN2.
|
23959108 |
2013 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Preclinical SCA1 and SCA2 mutation carriers seem to have mild coordination deficits and abnormalities in the brain that are more common in carriers who are closer to the estimated onset of ataxia.
|
23707147 |
2013 |
|
Cerebellar Ataxia
|
0.100 |
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 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Full expansions of the polyglutamine domain (polyQ≥34) within the polysome-associated protein ataxin-2 (ATXN2) are the cause of a multi-system neurodegenerative disorder, which usually presents as a Spino-Cerebellar Ataxia and is therefore known as SCA2, but may rarely manifest as Levodopa-responsive Parkinson syndrome or as motor neuron disease.
|
21889984 |
2012 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
In conclusion, SCA1, SCA2 and SCA7 are present in Greek patients with AD cerebellar ataxia in frequencies similar to those observed in other populations.
|
22520093 |
2012 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Facial dysmorphism associated with developmental delay and retinitis pigmentosa in early childhood should prompt a careful family investigation for ataxia and study of ATX2.
|
21975856 |
2012 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia.
|
21334959 |
2011 |
|
Cerebellar Ataxia
|
0.100 |
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 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
To report a case study that describes hypergonadotropic hypogonadism as a non-neurological manifestation of cerebellar ataxia in a patient with a hereditary trinucleotide repeat expansion disorder, SCA2.
|
19473475 |
2009 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
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 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
In a screen for modifiers of neurodegeneration due to SCA3 in Drosophila, we isolated atx2, the fly ortholog of the human gene that causes a related ataxia, SCA2.
|
18271626 |
2008 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Large expansions in the SCA2 and SCA7 genes (>100 CAG repeats) have been associated with juvenile and infantile forms of cerebellar ataxias that cannot be detected using standard polymerase chain reaction (PCR).
|
16436644 |
2006 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features.
|
16078202 |
2005 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
An ataxia panel showed 62 repeats in one allele of the SCA2 gene.
|
14735588 |
2004 |
|
Cerebellar Ataxia
|
0.100 |
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 |