Cerebellar Ataxia
|
0.200 |
Biomarker
|
phenotype |
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 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
|
27644330 |
2016 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We identified an atypical form of Ataxia with Oculoapraxia type 2 (AOA2) with myoclonus at onset associated with the c.6292C > T (p.Arg2098*) homozygous mutation.
|
25927548 |
2015 |
Cerebellar Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia.
|
26231220 |
2015 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia.
|
25116135 |
2014 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in SETX, which encodes the senataxin protein, a DNA/RNA helicase.
|
24814856 |
2014 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.
|
24183476 |
2014 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Ataxia telangiectasia (AT) and ataxia oculomotor apraxia type 2 (AOA2) are autosomal recessive ataxias caused by mutations in genes involved in maintaining DNA integrity.
|
24090759 |
2013 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
|
23941260 |
2013 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive form of ataxia caused by mutations in the SETX gene.
|
22065524 |
2012 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the SETX gene.
|
23111195 |
2012 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in APTX , SETX and MRE11 are common in patients with autosomal recessive ataxia and oculomotor apraxia.
|
21324166 |
2011 |
Cerebellar Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia.
|
21112256 |
2011 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Overall, these results reveal a key role of senataxin in neuronal differentiation through the fibroblast growth factor 8 signalling and provide initial molecular bases to explain the neurodegeneration associated with loss-of-function mutations in senataxin found in recessive ataxia.
|
21576111 |
2011 |
Cerebellar Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sjögren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).
|
19440741 |
2010 |
Cerebellar Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Strabismus is therefore also very suggestive of AOA2 when associated with ataxia and polyneuropathy even in the absence of OMA.
|
19141356 |
2009 |
Cerebellar Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
|
19515850 |
2009 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
|
18405395 |
2008 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).
|
18663494 |
2008 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
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 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Pseudodominant occurrence in two generations has not been described before in AOA2 and led, in this family, to false categorization as dominant ataxia before SETX mutations were detected.
|
18350359 |
2008 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
|
18405395 |
2008 |
Cerebellar Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); ataxia oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).
|
17224243 |
2007 |
Cerebellar Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We describe a patient homozygous for a novel mutation of SETX who manifested not only ataxia but also ovarian failure.
|
17593543 |
2007 |
Cerebellar Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral sclerosis 4 (ALS4).
|
17096168 |
2007 |