|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2).
|
17112370 |
2006 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Ataxia with oculomotor apraxia (AOA) type 2 (AOA2 MIM 606002) is a recessive subtype of AOA characterized by cerebellar atrophy, oculomotor apraxia, early loss of reflexes, and peripheral neuropathy.
|
19593598 |
2010 |
|
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 |
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 |
Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.
|
19727998 |
2009 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive form of ataxia caused by mutations in the SETX gene.
|
22065524 |
2012 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD).
|
21324166 |
2011 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder associated with mutations in the Senataxin (SETX) gene.
|
17593543 |
2007 |
|
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 |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level.
|
19696032 |
2009 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).
|
19893583 |
2009 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified six families homozygous for regions containing the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) gene, two families homozygous for the ataxia-telangiectasia gene (ATM), two families homozygous for the ataxia with oculomotor apraxia type 1 (AOA1) gene, and one family homozygous for the AOA type 2 (AOA2) gene.
|
20798953 |
2011 |
|
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 |
The objective of this article has been to describe the presence of a sensory neuronopathy in a patient harbouring ataxia with oculomotor apraxia type 2 (AOA2).
|
20869730 |
2010 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.
|
23111195 |
2012 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia.
|
21112256 |
2011 |
|
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 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Senataxin gene (SETX) are associated with autosomal recessive ataxia-ocular apraxia 2 (AOA2) and autosomal dominant juvenile ALS (ALS4).
|
16717225 |
2006 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Senataxin recently was identified as the mutated gene in ataxia-oculomotor apraxia 2, which is characterized by ataxia, oculomotor apraxia, and increased alpha-fetoprotein levels.
|
15732101 |
2005 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease caused by SETX mutations in 9q34 resulting in cerebellar ataxia in association with peripheral neuropathy, cerebellar atrophy on imaging, an elevated alpha-fetoprotein (AFP) serum level, and occasional oculomotor apraxia.
|
18625865 |
2008 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2).
|
16131425 |
2005 |
|
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 type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the SENATAXIN gene ( SETX).
|
19569000 |
2008 |