PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0003635|apraxia |
| Sentences | 65 |
| PubMedID- 24030952 | The blot was reported to be normal and the patient highly unlikely to have ataxia with oculomotor apraxia type 2, although in retrospect the band may be of reduced intensity. |
| PubMedID- 22480402 | Conclusion: present findings indicate that in patients who are affected by ataxia with oculomotor apraxia type 2, performance on neuropsychological tests, especially those that require rapid performance and eye or hand-eye control, must be analyzed with respect to oculomotor components. |
| PubMedID- 20301629 | ataxia with oculomotor apraxia type 1 |
| PubMedID- 23149945 | The neurodegenerative disorder ataxia with oculomotor apraxia 2 (aoa-2) is caused by defects in senataxin, a putative rna/dna helicase thought to be involved in the termination of transcription at rna polymerase pause sites. |
| PubMedID- 21324166 | Clinical and molecular characterization of ataxia with oculomotor apraxia patients in saudi arabia. |
| PubMedID- 20808545 | ataxia with oculomotor apraxia (aoa) type 1 is due to a mutation of the aprataxin gene and is associated with hypoalbuminemia [41, 42]. |
| PubMedID- 24694197 | 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. |
| PubMedID- 26285866 | ataxia with oculomotor apraxia type 1 is caused by bi-allelic mutations in aptx (chromosome 9p21.1). |
| PubMedID- 20869730 | 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). |
| PubMedID- 21212468 | Defective in zinc finger protein in controlling cellular dna repair processes may link to several human neurological disorders, such as ataxia with oculomotor apraxia 1 and spinocerebellar ataxia with axonal neuropathy 1 [50]. |
| PubMedID- 21465257 | ataxia with oculomotor apraxia type1 (aoa1): novel and recurrent aprataxin mutations, coenzyme q10 analyses, and clinical findings in italian patients. |
| PubMedID- 20301333 | ataxia with oculomotor apraxia type 2 (aoa2) is characterized by onset between age three and 30 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum concentration of alpha-fetoprotein (afp). |
| PubMedID- 23129421 | Mutations in the senataxin (setx) gene can cause amyotrophic lateral sclerosis 4 (als4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2. |
| PubMedID- 24814856 | 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. |
| PubMedID- 23015802 | Cognitive functions in ataxia with oculomotor apraxia type 2. |
| PubMedID- 20713024 | (1)h mr spectroscopy in friedreich's ataxia and ataxia with oculomotor apraxia type 2. |
| PubMedID- 24653660 | ataxia with oculomotor apraxia type ii is a recently described ataxia in which mutations were located on chromosome 9q34. |
| PubMedID- 23475383 | ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent autosomal recessive cerebellar ataxias. |
| PubMedID- 21486904 | Early onset ataxia with ocular motor apraxia and hypoalbuminaemia/ataxia-oculomotor apraxia 1 is a recessively inherited ataxia caused by mutations in the aprataxin gene. |
| PubMedID- 19593598 | 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. |
| PubMedID- 24793032 | Two neurodegenerative syndromes similar to a-t, ataxia with oculomotor apraxia (aoa1) and spinocerebellar ataxia with axonal neuropathy (scan1), result from defects in the dna repair enzymes aprataxin (aptx) and tyrosyl-dna phosphodiesterase 1 (tdp1), respectively. |
| PubMedID- 25637650 | Aprataxin (aptx), a protein altered in the heritable neurological disorder ataxia with oculomotor apraxia 1 (aoa1), acts as a dna ligase "proofreader" to directly reverse amp-modified nucleic acid termini in dna- and rna-dna damage responses. |
| PubMedID- 23524341 | As a proof of principle cockayne syndrome, ataxia with oculomotor apraxia 1 (aoa1), spinocerebellar ataxia with axonal neuropathy 1 (scan1) and ataxia-telangiectasia have recently been shown to have mitochondrial dysfunction and those diseases showed strong association with mitochondrial disorders. |
| PubMedID- 24760770 | Mutations in setx cause the recessive disorder ataxia with oculomotor apraxia type 2 (aoa2) and a dominant juvenile form of amyotrophic lateral sclerosis (als4). |
| PubMedID- 23956581 | Progressive ataxia associated with ocular apraxia type 1 (aoa1) with a presence of a novel mutation on the aprataxin gene. |
| PubMedID- 21984210 | Structural and mutational data support a wedge-pivot-cut hit-znf catalytic mechanism for 5'-adenylate adduct recognition and removal and suggest that mutations affecting protein folding, the active site pocket and the pivot motif underlie aptx dysfunction in the neurodegenerative disorder ataxia with oculomotor apraxia 1 (aoa1). |
| PubMedID- 23593030 | 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. |
| PubMedID- 25822250 | The human helicase senataxin (setx) has been linked to the neurodegenerative diseases amyotrophic lateral sclerosis (als4) and ataxia with oculomotor apraxia (aoa2). |
| PubMedID- 22928142 | A karyotype analysis and molecular testing for angelman syndrome, rett syndrome, and ataxia with oculomotor apraxia type 2 were unrevealing. |
| PubMedID- 21112256 | ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. |
| PubMedID- 23097646 | Apl-related chorea is common in children and it is important to exclude other possible causes, such as sydenham’s chorea, benign hereditary chorea, dna repair diseases (ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 and 2), wilson’s disease, pantothenate kinase-associated neurodegeneration (walker, 2011). |
| PubMedID- 20687492 | Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. |
| PubMedID- 24179805 | ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent types of autosomal degenerative cerebellar ataxia. |
| PubMedID- 26068213 | 18 patients representing 12 families were homozygous for different mutations in the setx (senataxin) gene responsible for ataxia with oculomotor apraxia 2 (aoa2). |
| PubMedID- 24362567 | This involves a-form rna binding, proper protein folding and conformational changes, all of which are affected by heritable aptx mutations in ataxia with oculomotor apraxia 1. |
| PubMedID- 26256098 | Mutations in aptx cause an inherited human disease syndrome characterized by early-onset progressive ataxia with ocular motor apraxia (aoa1). |
| PubMedID- 21316334 | Aprataxin forms another discrete branch of the hit superfamily, is implicated in dna repair mechanisms and unlike the hint and fhit members, a defective protein can be conclusively linked to a disease, ataxia with oculomotor apraxia type 1. |
| PubMedID- 22065524 | ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive form of ataxia caused by mutations in the setx gene. |
| PubMedID- 25462094 | Two novel mutations of the setx gene and ataxia with oculomotor apraxia type 2. |
| PubMedID- 23941260 | Oculomotor apraxia (oma) associated with cerebellar ataxia was first noted by boder and sedgwick[1] in patients with ataxia-telangiectasia (a-t). |
| PubMedID- 21412945 | Aptx is the gene involved in ataxia with oculomotor apraxia type 1 (aoa1), a recessive disorder with early-onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. |
| PubMedID- 25793145 | The differential diagnosis of ataxia with oculomotor apraxia, as seen in the first patient, includes at, aoa1, aoa2, at-like disorder due to mre11 mutation,4 and spinocerebellar ataxia with neuropathy type 1 (scan1) due to tdp1 mutation. |
| PubMedID- 25662216 | Here, using cell extracts from aptx-deficient cell lines, human ataxia with oculomotor apraxia type 1 (aoa1) and dt40 chicken b cell, we found that pol beta and fen1 enzymatic activities were prominent and strong enough to complement aptx deficiency. |
| PubMedID- 25728773 | Mutations in pnkp cause recessive ataxia with oculomotor apraxia type 4. |
| PubMedID- 21211720 | Of note, mutations in the helicase domain of the human sen1 gene ortholog setx (encoding senataxin) cause the neurodegenerative diseases, ataxia with oculomotor apraxia type ii (aoaii), and juvenile amyotrophic lateral sclerosis (als4). |
| PubMedID- 21576111 | Senataxin is encoded by the setx gene and is mainly involved in two different neurodegenerative diseases, the dominant juvenile form of amyotrophic lateral sclerosis type 4 and a recessive form of ataxia with oculomotor apraxia type 2. |
| PubMedID- 23183622 | A novel mutation in the aprataxin (aptx) gene in an iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(aoa1) disease. |
| PubMedID- 22736457 | ataxia with oculomotor apraxia type 1, another recessive ataxia, shares the biochemical features of susceptibility to dna damage with at (for a review, see rass et al., 2007), but also has no clear increased risk of neoplasia (le ber et al., 2003). |
| PubMedID- 24161509 | Mutations in aptx and tdp1 have been reported to cause both ataxia with oculomotor apraxia type 1 (aoa1, for aptx) [23] and spinocerebellar ataxia with axonal neuropathy type 1 (scan1, for tdp1) [24] with both presenting with ataxia, a feature often, although not exclusively, associated with mitochondrial disease [25]. |
| PubMedID- 23370611 | From anti-gad to ataxia with ocular motor apraxia type 2: through the looking glass. |
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