Oculovestibuloauditory syndrome
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0.200 |
GeneticVariation
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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.
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30642639 |
2019 |
Oculovestibuloauditory syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia characterized by onset between 10 and 20 years of age and a range of neurological features that include progressive cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia in a majority of patients, and elevated serum alpha-fetoprotein (AFP).
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30778901 |
2019 |
Oculovestibuloauditory syndrome
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0.200 |
GeneticVariation
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disease |
BEFREE |
SMN interacts with senataxin, which is sometimes mutated in ataxia oculomotor apraxia type 2 and amyotrophic lateral sclerosis.
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26700805 |
2016 |
Oculovestibuloauditory syndrome
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0.200 |
GeneticVariation
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disease |
BEFREE |
Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.
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24183476 |
2014 |
Oculovestibuloauditory syndrome
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0.200 |
Biomarker
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disease |
BEFREE |
The phenotype was consistent with previous descriptions of AOA2, except for a higher frequency of strabism, and for the absence of oculomotor apraxia.
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23941260 |
2013 |
Oculovestibuloauditory syndrome
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0.200 |
GeneticVariation
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disease |
BEFREE |
Mutations in APTX , SETX and MRE11 are common in patients with autosomal recessive ataxia and oculomotor apraxia.
|
21324166 |
2011 |
Oculovestibuloauditory syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia.
|
21112256 |
2011 |
Oculovestibuloauditory syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia.
|
19515850 |
2009 |
Oculovestibuloauditory syndrome
|
0.200 |
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 |
Oculovestibuloauditory syndrome
|
0.200 |
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 |
Oculovestibuloauditory syndrome
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0.200 |
Biomarker
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disease |
BEFREE |
Ataxia-oculomotor apraxia types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia.
|
16700949 |
2006 |
Oculovestibuloauditory syndrome
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0.200 |
GeneticVariation
|
disease |
BEFREE |
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels.
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16636238 |
2006 |
Oculovestibuloauditory syndrome
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0.200 |
Biomarker
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disease |
HPO |
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