|
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 |
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 |
The single RING finger type E3 ubiquitin-protein ligase PARK2 is mutated in a Parkinson's disease (PD) variant and was found to interact with ATXN2, a protein where polyglutamine expansions cause Spinocerebellar ataxia type 2 (SCA2) or increase the risk for Levodopa-responsive PD and for the motor neuron disease Amyotrophic lateral sclerosis (ALS).
|
25790475 |
2015 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is a progressive autosomal dominant disorder caused by the expansion of a CAG tract in the ATXN2 gene.
|
26086378 |
2015 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder with progressive degeneration of cerebellar Purkinje cells (PCs) and other neurons caused by expansion of a glutamine (Q) tract in the ATXN2 protein.
|
25902068 |
2015 |
|
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 |
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 |
GENOMICS_ENGLAND |
Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.
|
24488689 |
2014 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
We present clinical and pathological features of a family in which a pathological ATXN2 expansion led to frontotemporal lobar degeneration with ALS (FTLD-ALS) in the index case, but typical SCA2 in a son, and compare the neuropathology with a case of typical SCA2.
|
24718895 |
2014 |
|
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 |
Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis.
|
25285812 |
2014 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
In this review, we offer a detailed description of the clinical manifestations of SCA2 and compile the experimental evidence showing the participation of ataxin-2 in crucial cellular processes, including messenger RNA maturation and translation, and endocytosis.
|
22996397 |
2013 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Ataxin-2 is a polyglutamine protein which normally contains 22 repeats, but expanded repeats (>34) are found in Spinocerebellar Ataxia type 2.
|
23172909 |
2013 |
|
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 |
Biomarker
|
disease |
MGD |
Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)(31).
|
22956915 |
2012 |
|
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 |
Furthermore, ataxin-2 (encoded by the gene ATXN2), a polyglutamine containing protein elongated in spinocerebellar ataxia type 2, has been shown to be a modulator of TDP-43 induced toxicity in ALS animal and cell models.
|
22868089 |
2012 |
|
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 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant cerebellar ataxia caused by triplet CAG/CTG expansion in the ATX2 gene.
|
21975856 |
2012 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
In conclusion, our study points to a novel regulatory mechanism of ATXN2 expression involving an epigenetic event resulting in differential disease course in SCA2 patients.
|
22037902 |
2012 |