|
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 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 |
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 |
Intermediate CAG repeat expansions in ataxin 2 (ATXN2), the causative gene of spinocerebellar ataxia type 2 (SCA2), have been implicated in sporadic ALS.
|
21562247 |
2011 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Conversely, the progressive ATXN2 gain of function due to the fact of polyglutamine (polyQ) expansions leads to a dominantly inherited neurodegenerative process named spinocerebellar ataxia type 2 (SCA2) with early adipose tissue loss and late muscle atrophy.
|
31766565 |
2019 |
|
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 |
Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture.
|
28456900 |
2017 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This family expands the phenotypic spectrum of early onset SCA2 and points out the importance of considering SCA2 gene analysis in children with progressive neurological impairment and abnormal movements with or without polyphagia.
|
18297329 |
2008 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expansions of the polyglutamine (polyQ) domain (≥ 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2).
|
22916186 |
2012 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To study the molecular events associated with these expansions, we sequenced them and analyzed the transcriptome from blood cells of controls and three patient groups diagnosed with spinocerebellar ataxia type 2 (herein referred to as SCA2c) or PD with or without ATXN2 triplet expansions (named SCA2p).
|
27663142 |
2016 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We studied the masseter reflex electrophysiologically in spinocerebellar ataxia type 2 (SCA2, 10 patients) and type 3 (SCA3/MJD, 13 patients).
|
19618433 |
2009 |
|
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.
|
21934711 |
2012 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |