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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ataxia
Comorbidity C0003635|apraxia
Sentences 60
PubMedID- 24030952 In case 14 the diagnosis of ataxia with oculomotor apraxia type 2 had not previously been made because of lack of availability of genetic testing, however case 15 was more complex.
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- 23956581 Progressive ataxia associated with ocular apraxia type 1 (aoa1) with a presence of a novel mutation on the aprataxin gene.
PubMedID- 24179805 ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent types of autosomal degenerative cerebellar ataxia.
PubMedID- 25662216 Mutations in the aptx gene cause the autosomal recessive neurodegenerative disease known as ataxia with oculomotor apraxia type 1 (aoa1) (9).
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- 23015802 Cognitive functions in ataxia with oculomotor apraxia type 2.
PubMedID- 23276302 Mutations in aptx account for several neurodegenerative disorders, including ataxia with oculomotor apraxia type 1 (aoa1) [41,42].
PubMedID- 21324166 Clinical and molecular characterization of ataxia with oculomotor apraxia patients in saudi arabia.
PubMedID- 24653660 ataxia with oculomotor apraxia type ii is a recently described ataxia in which mutations were located on chromosome 9q34.
PubMedID- 23370611 From anti-gad to ataxia with ocular motor apraxia type 2: through the looking glass.
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- 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- 21486904 However, reports on genotype-phenotype correlation in early onset ataxia with ocular motor apraxia and hypoalbuminaemia are controversial.
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- 22065524 ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive form of ataxia caused by mutations in the setx gene.
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- 26285866 ataxia with oculomotor apraxia type 1 is caused by bi-allelic mutations in aptx (chromosome 9p21.1).
PubMedID- 23941260 Objectives/background: ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (a-t, atm gene), ataxia with oculomotor apraxia type 1 (aoa1, aptx gene) and type 2 (aoa2, setx gene).
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- 22928142 A karyotype analysis and molecular testing for angelman syndrome, rett syndrome, and ataxia with oculomotor apraxia type 2 were unrevealing.
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- 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- 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- 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- 21112256 ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia.
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- 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- 23111195 ataxia with oculomotor apraxia type 2 (aoa2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the setx gene.
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- 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- 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- 25822250 The human helicase senataxin (setx) has been linked to the neurodegenerative diseases amyotrophic lateral sclerosis (als4) and ataxia with oculomotor apraxia (aoa2).
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- 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- 25462094 Two novel mutations of the setx gene and ataxia with oculomotor apraxia type 2.
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- 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- 23149945 Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the dna damage response.
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- 20301333 ataxia with oculomotor apraxia type 2
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- 25787807 ataxia with oculomotor apraxia type 2: not always an easy diagnosis.
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].
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- 26332941 ataxia with oculomotor apraxia type 2 in the canadian aboriginal population.
PubMedID- 23475383 ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent autosomal recessive cerebellar ataxias.
PubMedID- 25845762 Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset.
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.

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