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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease apraxia
Comorbidity C0004134|ataxia
Sentences 61
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- 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- 23111195 Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (aoa2) in 5 tunisian families.
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- 21324166 ataxia with oculomotor apraxia type1 (aoa1), ataxia with oculomotor apraxia type2 (aoa2), ataxia with oculomotor apraxia type3 (aoa3), ataxia talengestasia (at) and ataxia talengestasia like (atld) represent a group of overlapping recessively inherited ataxias[22].
PubMedID- 21112256 ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia.
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- 21465257 ataxia with oculomotor apraxia type1 (aoa1): novel and recurrent aprataxin mutations, coenzyme q10 analyses, and clinical findings in italian patients.
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- 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- 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 β and fen1 enzymatic activities were prominent and strong enough to complement aptx deficiency.
PubMedID- 22928142 A karyotype analysis and molecular testing for angelman syndrome, rett syndrome, and ataxia with oculomotor apraxia type 2 were unrevealing.
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- 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- 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- 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- 20713024 (1)h mr spectroscopy in friedreich's ataxia and 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- 20687492 Significant attention has been given on the dna ssb repair (ssbr) system in neurons, because the impairment of the ssbr causes human neurodegenerative disorders, including early-onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh), also known as ataxia-oculomotor apraxia type 1 (aoa1).
PubMedID- 24030952 The diagnosis of ataxia with oculomotor apraxia type 2 was considered but excluded by sequencing on a research basis.
PubMedID- 23475383 Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2.
PubMedID- 24179805 ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent types of autosomal degenerative cerebellar ataxia.
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- 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- 23276302 Mutations in aptx account for several neurodegenerative disorders, including ataxia with oculomotor apraxia type 1 (aoa1) [41,42].
PubMedID- 24814856 ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative dna damage.
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- 24653660 ataxia with oculomotor apraxia type ii is a recently described ataxia in which mutations were located on chromosome 9q34.
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- 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- 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- 23370611 From anti-gad to ataxia with ocular motor apraxia type 2: through the looking glass.
PubMedID- 25728773 Mutations in pnkp cause recessive ataxia with oculomotor apraxia type 4.
PubMedID- 23956581 Progressive ataxia associated with ocular apraxia type 1 (aoa1) with a presence of a novel mutation on the aprataxin gene.
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- 22065524 ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive form of ataxia caused by mutations in the setx gene.
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- 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- 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- 25845762 Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset.
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- 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- 20593000 Neurological symptoms such as ataxia, deficits of the pyramidal tract, apraxia, and myoclonus often develop, followed by ophthalmoplegia and respiratory difficulties as a sign of brain stem damage [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- 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- 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- 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- 23015802 Background: ataxia with oculomotor apraxia type 2 (aoa2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (afp) levels.
PubMedID- 21486904 Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
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.

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