PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0271270|oculomotor apraxia |
| Sentences | 58 |
| PubMedID- 26256098 | Frame-shift, splice-site, nonsense and missense mutations identified in the aptx cluster primarily in the hit domain, destabilize aoa1 protein, and cause the human hereditary neurodegenerative disease, ataxia with oculomotor apraxia (aoa1)234. aptx resolves 5′- amp termini that can occur during premature termination of dna ligation events in dna repair and replication356. |
| PubMedID- 22480402 | Introduction: ataxia with oculomotor apraxia type 2 is a rare and early-disabling neurodegenerative disease, part of a subgroup of autosomal recessive cerebellar ataxia, in which oculomotor symptoms (e.g., increased saccade latency and hypometria) and executive function deficits have been described. |
| 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- 25822250 | The human helicase senataxin (setx) has been linked to the neurodegenerative diseases amyotrophic lateral sclerosis (als4) and ataxia with oculomotor apraxia (aoa2). |
| 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- 25662216 | Mutations in the aptx gene cause the autosomal recessive neurodegenerative disease known as ataxia with oculomotor apraxia type 1 (aoa1) (9). |
| PubMedID- 24814856 | ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative dna damage. |
| PubMedID- 23111195 | ataxia with oculomotor apraxia type 2 (aoa2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the setx gene. |
| 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- 26285866 | Background: ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. |
| 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- 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- 25462094 | Two novel mutations of the setx gene and ataxia with oculomotor apraxia type 2. |
| 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- 22928142 | A karyotype analysis and molecular testing for angelman syndrome, rett syndrome, and ataxia with oculomotor apraxia type 2 were unrevealing. |
| 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- 23183622 | Background: ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. |
| PubMedID- 23593030 | ataxia with oculomotor apraxia type 2 (aoa2) caused by a defect in the gene setx (coding for senataxin) is part of a subgroup of autosomal recessive ataxias characterized by defects in genes responsible for the recognition and/or repair of damage in dna. |
| 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- 20301629 | ataxia with oculomotor apraxia type 1 (aoa1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. |
| 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- 21502511 | ataxia with oculomotor apraxia 1 is caused by mutation in the aptx gene, which encodes the dna strand-break repair protein aprataxin. |
| PubMedID- 21465257 | ataxia with oculomotor apraxia type1 (aoa1): novel and recurrent aprataxin mutations, coenzyme q10 analyses, and clinical findings in italian patients. |
| PubMedID- 20713024 | (1)h mr spectroscopy in friedreich's ataxia and ataxia with oculomotor apraxia type 2. |
| PubMedID- 23475383 | ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent autosomal recessive cerebellar ataxias. |
| 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- 21324166 | Clinical and molecular characterization of ataxia with oculomotor apraxia patients in saudi arabia. |
| PubMedID- 24362567 | This involves a-form rna-binding, proper protein folding and conformational changes, all of which are impacted by heritable aptx mutations in ataxia with oculomotor apraxia 1 (aoa1). |
| PubMedID- 23015802 | ataxia with oculomotor apraxia type 2 (aoa2) was first described in 1998 in a japanese family (watanabe et al., 1998). |
| PubMedID- 24653660 | ataxia with oculomotor apraxia type ii is a recently described ataxia in which mutations were located on chromosome 9q34. |
| 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- 24179805 | ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent types of autosomal degenerative cerebellar ataxia. |
| 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- 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- 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- 23941260 | oculomotor apraxia (oma) associated with cerebellar ataxia was first noted by boder and sedgwick[1] in patients with ataxia-telangiectasia (a-t). |
| PubMedID- 23524341 | Aoa1: ataxia with oculomotor apraxia 1; scan1: spinocerebellar ataxia with axonal neuropathy 1. |
| 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- 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- 25728773 | We used homozygosity mapping and exome sequencing to study a cohort of nine portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (aoa). |
| PubMedID- 25787807 | ataxia with oculomotor apraxia type 2: not always an easy diagnosis. |
| 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- 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- 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- 22065524 | ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive form of ataxia caused by mutations in the setx gene. |
| 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- 21112256 | ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. |
| PubMedID- 26068213 | The ataxia with oculomotor apraxia type 1 (aoa1) was the fifth most frequent arca in our cohort since we have identified 6 patients (3 families) carrying aptx mutations, although it seems to be a rare condition outside japan or portugal [42, 43]. |
| PubMedID- 26332941 | ataxia with oculomotor apraxia type 2 in the canadian aboriginal population. |
Page: 1 2