PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | |apraxia |
| Sentences | 65 |
| PubMedID- 24164873 | In ataxia with ocular apraxia type 2 (aoa2), the mean sdfs score is 4.7 after a mean disease duration of 18.9 years[12], giving a mean progression rate of the disability score (sdfs/disease duration) of 0.39 versus 0.19 for the 13 arca2 patients evaluated here. |
| PubMedID- 25787807 | ataxia with oculomotor apraxia type 2: not always an easy diagnosis. |
| PubMedID- 25868131 | ataxia with oculomotor apraxia types 1-3 (aoa1, 2, and 3) result in a neurodegenerative and cellular phenotype similar to at; however, the basis of this phenotypic similarity is unclear. |
| PubMedID- 23276302 | Mutations in aptx account for several neurodegenerative disorders, including ataxia with oculomotor apraxia type 1 (aoa1) [41,42]. |
| PubMedID- 26377184 | This leads to aprataxin (aptx), a deoxyribonucleic acid (dna) repair protein, being prevented from entering the nucleus due to phosphorylation and, in consequence, to increased oxidative stress-induced dna damage and cell death [41]; mutations in the aptx gene underlie early-onset ataxia with oculomotor apraxia and hypoalbuminaemia [44]. |
| PubMedID- 23111195 | Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (aoa2) in 5 tunisian families. |
| PubMedID- 23178371 | Included in this group is a novel form of ataxia with oculomotor apraxia characterised by sensitivity to dna damaging agents, a defect in p53 stabilisation, oxidative stress and resistance to apoptosis. |
| PubMedID- 26332941 | ataxia with oculomotor apraxia type 2 in the canadian aboriginal population. |
| PubMedID- 24244371 | Senataxin is a large 303 kda protein linked to neuron survival, as recessive mutations cause ataxia with oculomotor apraxia type 2 (aoa2), and dominant mutations cause amyotrophic lateral sclerosis type 4 (als4). |
| PubMedID- 23203191 | Decreased ape1 levels were found in patient cells affected by ataxia with oculomotor apraxia type 1 (aoa1) [191], a neurodegenerative disorder originating in mutations of the aptx gene [192,193], which results in a cellular aprataxin deficiency [194]. |
| PubMedID- 21502511 | ataxia with oculomotor apraxia 1 is caused by mutation in the aptx gene, which encodes the dna strand-break repair protein aprataxin. |
| PubMedID- 26213621 | Senataxin (setx) was initially identified as a causative gene for severe early-onset ataxia with oculomotor apraxia (aoa2), which is the second most common recessive ataxia after freidreich's ataxia [11]. |
| PubMedID- 25725227 | Dominantly inherited mutations were documented in rare juvenile-onset, motor neuron disease pedigrees in a familial form of amyotrophic lateral sclerosis (als4), while recessive mutations were found to cause a severe early-onset ataxia with oculomotor apraxia (aoa2) that is actually the second most common recessive ataxia after freidreich's ataxia. |
| PubMedID- 25845762 | Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset. |
| PubMedID- 26331048 | ataxia with occulomotor apraxia type 2 (aoa2) is a rare autosomal recessive cerebellar ataxia caused by mutations in the senataxin gene (setx) [1]. |
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