|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
This chapter describes the characteristics of SCA2 patients briefly, and reviews ATXN2 molecular features and progress toward the identification of a treatment for SCA2.
|
29427103 |
2018 |
|
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 |
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
Previous studies have investigated the close association that exists between CAG repeat number and the age at onset in SCA2 = spinocerebellar ataxia type 2.
|
20095980 |
2010 |
|
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 |
Biomarker
|
disease |
BEFREE |
Taken together, we provide evidence that Ataxin-2 plays an evolutionary conserved role in ER dynamics and morphology in C. elegans and Drosophila embryos during development and in fly neurons, suggesting a possible SCA2 disease mechanism.
|
30989774 |
2019 |
|
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 |
Biomarker
|
disease |
BEFREE |
Genetic mapping located the SCA2-P pedigree on 12q24.21, which spans the ATXN2 gene.
|
25189117 |
2015 |
|
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 |
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 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
In ATXN2, polyQ expansions of ≥ 34, which are pure CAG repeat expansions, cause spinocerebellar ataxia type 2.
|
21479228 |
2011 |
|
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 |
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 |
Identifying function-specific therapeutics for SCA2 is problematic due to the limited knowledge of ATXN2 function.
|
22914732 |
2012 |
|
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 |
Biomarker
|
disease |
BEFREE |
The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: 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 DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin.
|
17961920 |
2007 |
|
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 |
Biomarker
|
disease |
BEFREE |
Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2.
|
29756284 |
2018 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
SCA2 and normal FBs showed a comparable level of ataxin-2 expression; whereas SCA2 NSCs showed less ataxin-2 expression than normal NSCs and SCA2 FBs.
|
23224816 |
2013 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is a rare neurodegenerative disorder caused by a CAG repeat expansion in the ataxin-2 gene.
|
28263872 |
2017 |