|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
ATXN-2 alleles with the same length and structure have been reported in SCA2 patients with parkinsonism or in familial and sporadic Parkinson.
|
21537950 |
2011 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expansion of a CAG repeat in the coding region of exon 1 in the ATXN2 gene located in human chromosome 12q24.1 causes the neurodegenerative disease spinocerebellar ataxia type 2 (SCA2).
|
20016785 |
2009 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Ataxin-2 (ATXN2) plays vital roles in cell proliferation and growth, and functional mutations of ATXN2 cause neurodegenerative phenotypes, including spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS).
|
24333172 |
2014 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2.
|
30219976 |
2019 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia 2 (SCA2) is an autosomal-dominant neurodegenerative disease caused by an extended polyglutamine sequence in the ATXN2 protein.
|
18236424 |
2008 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The ALS risk was associated with SCA2 alleles as well as with intermediate CAG lengths in the ATXN2.
|
23936447 |
2013 |
|
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 |
Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.
|
23959108 |
2013 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We discuss these findings in the context of large repeat expansions in ATXN2 and spinocerebellar ataxia type 2, providing evidence that intermediate repeats in ATXN2 cause significant, albeit less substantial, spinocerebellar damage compared with longer repeats in ATXN2.
|
26599997 |
2016 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In addition, a CAG-repeat expansion in exon 1 of ATXN2, otherwise known to cause spinocerebellar ataxia type 2, has been identified as a major risk factor for sporadic ALS.
|
22507827 |
2012 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, intermediate CAG repeat expansions in ATXN2, the gene responsible for spinocerebellar ataxia type 2 (SCA2), have been identified as a possible genetic risk factor for ALS.
|
23635656 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The ATXN2 gene, responsible for spinocerebellar ataxia type 2 (SCA2) was located precisely in the center of the positive region on chromosome 12.
|
21307863 |
2011 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Expansion of polyglutamine trinucleotide (CAG) within ATXN2 gene with 35 or more repeats, results in spinocerebellar ataxia type-2.
|
28612427 |
2018 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest a function for STAU1 in aberrant RNA metabolism associated with ATXN2 mutation, suggesting STAU1 is a possible novel therapeutic target for SCA2.
|
30194296 |
2018 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder.
|
21610160 |
2011 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative and incurable hereditary disorder caused by a CAG repeat expansion mutation on ATXN2 gene.
|
24780439 |
2014 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our results showed (1) CAA interruptions also in expanded ATXN2 alleles; (2) that pathological CAA interrupted alleles shared an ancestral haplotype with pure expanded alleles; and (3) higher genetic diversity in European SCA2 families, suggesting an older European ancestry of SCA2.
|
19676102 |
2010 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, intermediate-length (27-33) polyglutamine (polyQ) expansions in ataxin-2 (ATXN2) have been associated with increased risk for ALS, while expansions of > 34 repeats are known to cause spinocerebellar ataxia type 2 (Sca-2).
|
22035589 |
2012 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Because longer ataxin 2 polyQ expansions are associated with a different disease, spinocerebellar ataxia 2, these findings help explain how different polyQ expansions in the same protein can have distinct cellular consequences, ultimately resulting in different clinical features.
|
22764223 |
2012 |
|
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 |
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 |
Spinocerebellar ataxia type 2 (SCA2) is due to a CAG expansion (CAGexp) at ATXN2.
|
28648514 |
2017 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SCA2 is caused by spontaneous misfolding and aggregate formation from abnormal CAG trinucleotide repeat expansion in the coding region of the ATXN2 gene.
|
30611021 |
2019 |