|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar atrophy, peripheral neuropathy and oculomotor apraxia.
|
30642639 |
2019 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).
|
30778901 |
2019 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one ataxia with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy.The diagnostic yield was 58.8%.
|
30301590 |
2019 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ataxia with oculomotor apraxia 2 (AOA-2) and amyotrophic lateral sclerosis (ALS4) are neurological disorders caused by mutations in the gene encoding for senataxin (SETX), a putative RNA:DNA helicase involved in transcription and in the maintenance of genome integrity.
|
29416069 |
2018 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Reverse phenotyping identified spinocerebellar ataxia, autosomal recessive 1 [OMIM 606002, also referred to as ataxia oculomotor apraxia type 2 (AOA2)] and ataxia telangiectasia (OMIM 208900) in the two families.
|
30198223 |
2018 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in SETX are linked to two neurodegenerative disorders: ataxia with oculomotor apraxia type 2 (AOA2) and amyotrophic lateral sclerosis type 4 (ALS4).
|
27771483 |
2017 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Senataxin (SETX) gene causes two types of neurological disorders, Amyotrophic Lateral Sclerosis (ALS4) and Ataxia with Oculomotor Apraxia type 2 (AOA2).
|
28245518 |
2017 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
These features were typical features of ataxia with oculomotor apraxia type 2 (AOA2) and in line with the genetic results.
|
27644330 |
2016 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human Senataxin (hSETX) gene have been shown to cause two forms of neurodegenerative disorders - a dominant form called amyotrophic lateral sclerosis type 4 (ALS4) and a recessive form called ataxia with oculomotor apraxia type 2 (AOA2).
|
27197982 |
2016 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Cells that had undergone depletion of SETX and SETX-deficient cells derived from patients with AOA2 had higher expression of antiviral mediators in response to infection than did wild-type cells.
|
25822250 |
2015 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous and compound heterozygous mutations in SETX are associated with AOA2 disease, a recessive form of ataxia with oculomotor apraxia and neuropathy with onset of ataxia between the first and second decade of life.
|
24183476 |
2014 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe the clinical phenotype and molecular characterization of a Colombian AOA2 patient who is compound heterozygous for a c.994 C>T (p.R332W) missense mutation in exon 7 and a c.6848_6851delCAGA (p.T2283KfsX32) frameshift deletion in SETX exon 21.
|
24814856 |
2014 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.
|
24814856 |
2014 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
To assess the functional role of senataxin in disease, we examined differential gene expression in AOA2 patient fibroblasts, identifying a core set of genes showing altered expression by microarray and RNA-sequencing.
|
24760770 |
2014 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in human senataxin (SETX), an ortholog yeast protein of Sen1, have been identified to cause the syndrome of ataxia with oculomotor apraxia type 2 (AOA2) and juvenile amyotrophic lateral sclerosis (ALS4), two types of progressive motor neuron degeneration.
|
24694197 |
2014 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Guided by sequence homology between the conserved helicase domains of Sen1 and Senataxin, we tested the effects of 13 missense mutations that cosegregate with the inherited disorder ataxia with oculomotor apraxia type 2 on Sen1 function.
|
25116135 |
2014 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The patient carrying the p.K992R SETX polymorphism had a phenotype similar to that of the diagnosed AOA2 patients, while the other three undiagnosed subjects had a very late onset and a few distinguishing clinical features.
|
23941260 |
2013 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response.
|
23593030 |
2013 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level.
|
23786967 |
2013 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Senataxin (SETX) is an RNA/DNA helicase implicated in transcription termination and the DNA damage response and is mutated in two distinct neurological disorders: AOA2 (ataxia oculomotor apraxia 2) and ALS4 (amyotrophic lateral sclerosis 4).
|
24105744 |
2013 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Senataxin (SETX) is an RNA/DNA helicase implicated in transcription termination and the DNA damage response and is mutated in two distinct neurological disorders: AOA2 (ataxia oculomotor apraxia 2) and ALS4 (amyotrophic lateral sclerosis 4).
|
24105744 |
2013 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2).
|
23566282 |
2013 |