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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cogan syndrome
Comorbidity C0004134|ataxia
Sentences 52
PubMedID- 21465257 ataxia with oculomotor apraxia type1 (aoa1, mim 208920) is a rare autosomal recessive disease caused by mutations in the aptx gene.
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- 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- 21502511 ataxia with oculomotor apraxia 1 is caused by mutation in the aptx gene, which encodes the dna strand-break repair protein aprataxin.
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- 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- 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- 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- 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 oculomotor apraxia (oma) associated with cerebellar ataxia was first noted by boder and sedgwick[1] in patients with ataxia-telangiectasia (a-t).
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- 23149945 Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the dna damage response.
PubMedID- 23015802 Cognitive functions in ataxia with oculomotor apraxia type 2.
PubMedID- 25662216 Mutations in the aptx gene cause the autosomal recessive neurodegenerative disease known as ataxia with oculomotor apraxia type 1 (aoa1) (9).
PubMedID- 23475383 ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent autosomal recessive cerebellar ataxias.
PubMedID- 23111195 Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (aoa2) in 5 tunisian families.
PubMedID- 20301333 ataxia with oculomotor apraxia type 2
PubMedID- 20713024 (1)h mr spectroscopy in friedreich's ataxia and ataxia with oculomotor apraxia type 2.
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- 22993450 Aoa: ataxia with oculomotor apraxia; drpla, dentato-rubro-pallido-luysian atrophy; hd, huntington's disease; pkan, pantothenate kinase-associated neurodegeneration; plan, pla2g6-associated neurodegeneration; sca, spinocerebellar ataxia; wd, wilson's disease.
PubMedID- 21324166 These include ataxia with oculomotor apraxia type1 (aoa1), ataxia with oculomotor apraxia type 2 (aoa2) and ataxia-telangiectasia-like disease (atld).
PubMedID- 21112256 ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia.
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- 20301629 ataxia with oculomotor apraxia type 1
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- 26332941 ataxia with oculomotor apraxia type 2 in the canadian aboriginal population.
PubMedID- 26285866 Conclusion: here we described an ataxia with oculomotor apraxia type 1 patient who has a homozygous deletion of the complete coding region of aptx.
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- 23276302 Mutations in aptx account for several neurodegenerative disorders, including ataxia with oculomotor apraxia type 1 (aoa1) [41,42].
PubMedID- 22480402 The aim of this study was to evaluate the impact of oculomotor symptoms on cognitive performance and, in particular, over reading in 2 italian siblings affected by ataxia with oculomotor apraxia type 2.
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- 25728773 Mutations in pnkp cause recessive ataxia with oculomotor apraxia type 4.
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- 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- 24653660 Two types of ataxia with oculomotor apraxia have been identified to date.
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- 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- 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- 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- 25462094 Two novel mutations of the setx gene and ataxia with oculomotor apraxia type 2.
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- 24814856 ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative dna damage.
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- 24179805 ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent types of autosomal degenerative cerebellar ataxia.
PubMedID- 25787807 ataxia with oculomotor apraxia type 2: not always an easy diagnosis.
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- 22065524 ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive form of ataxia caused by mutations in the setx gene.
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.

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