|
Spinocerebellar Ataxia Type 2
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Spinocerebellar Ataxia Type 2
|
0.900 |
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 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutation.
|
9549522 |
1998 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
In order to provide insights into the molecular mechanisms of pathogenesis of SCA2 and to identify conserved domains, we isolated and characterized the mouse homolog of the SCA2 gene.
|
9668173 |
1998 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Sixteen patients from nine Chinese families with spinocerebellar ataxia type 2 (SCA2) were heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats, whereas the normal alleles carried 14 to 28 repeats.
|
9710044 |
1998 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.
|
9779806 |
1998 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic study using PCR revealed that all affected patients had an expanded CAG allele in the ataxin-2 gene, which led to a final diagnosis of SCA2.
|
9875622 |
1998 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In order to further use the spinocerebellar ataxia 2 (SCA2) promoter for transgenic mice models of "CAG repeat" neurodegeneration, different fragments of this 5' end were ligated into pGL3-Luc plasmid to obtain the better promoter-activity of the physiological promoter for SCA2.
|
9918835 |
1999 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is caused by expansion of unstable CAG repeats within the coding region of the novel gene, ataxin-2, on chromosome 12q24.1.
|
10525984 |
1999 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The identification of a CAG trinucleotide repeat expansion, located within the coding sequence of the ataxin-2 gene, as the mutation underlying spinocerebellar ataxia 2 (SCA2) has facilitated direct investigation of pedigrees previously excluded from linkage analysis due to insufficient size or pedigree structure.
|
10573020 |
2000 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
The SCA2 (CAG)n expansion was identified in 71 patients from 54 families.
|
10735276 |
1997 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is caused by expansion of a polyglutamine tract in ataxin-2, a protein of unknown function.
|
10814712 |
2000 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder caused by the expansion of a polymorphic (CAG)(n) tract, which is translated into an expanded polyglutamine tract in the ataxin-2 protein.
|
10915763 |
2000 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.
|
10973246 |
2000 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder that results from the expansion of a cryptic CAG repeat within the exon 1 of the SCA2 gene.
|
11689490 |
2001 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Given that loss of cytoskeleton-dependent dendritic structure defines an early event in SCA2 pathogenesis, our findings suggest the possibility that dysregulation of actin cytoskeletal structure resulting from altered ataxin-2 activity is responsible for neurodegeneration in SCA2.
|
12524342 |
2002 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Ataxin-2, the gene responsible for spinocerebellar ataxia type 2 (SCA2), localizes to this region, but no triplet repeat expansion or point mutations within the repeat were found.
|
12682323 |
2003 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
To investigate SCA2 as the possible cause of familial parkinsonism in our series and subsequently to analyze the correlation between the clinical manifestation and CAG repeat size in the ataxin-2 gene product.
|
14732617 |
2004 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is a human neurodegenerative disease caused by mutation in the ataxin-2 gene on human chromosome 12.
|
14769358 |
2003 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
A2BP1 encodes a protein that is known to interact with the spinocerebellar ataxia type 2 ( SCA2) protein.
|
15148587 |
2004 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Human ataxin 2 is a protein of unknown function that is implicated in the neurodegenerative disorder spinocerebellar ataxia type 2.
|
15342467 |
2004 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
Can ataxin-2 be down-regulated by allele-specific de novo DNA methylation in SCA2 patients?
|
15504570 |
2004 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder characterized as an expanded CAG trinucleotide repeats in SCA2 gene resulting in abnormal polyglutamine sequence.
|
16128876 |
2005 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
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 |