Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ataxia
Comorbidity C0271270|oculomotor apraxia
Sentences 54
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- 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- 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- 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- 20640395 The most frequent of these rare disorders in the caucasian population is friedreich's ataxia followed by ataxias with oculomotor apraxia.
PubMedID- 25662216 Mutations in the aptx gene cause the autosomal recessive neurodegenerative disease known as ataxia with oculomotor apraxia type 1 (aoa1) (9).
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- 24653660 ataxia with oculomotor apraxia type ii is a recently described ataxia in which mutations were located on chromosome 9q34.
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- 24030952 The diagnosis of ataxia with oculomotor apraxia type 2 was considered but excluded by sequencing on a research basis.
PubMedID- 21324166 These include ataxia with oculomotor apraxia type1 (aoa1), ataxia with oculomotor apraxia type 2 (aoa2) and ataxia-telangiectasia-like disease (atld).
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- 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- 21827898 Autosomal recessive cerebellar ataxias with 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- 26285866 Case presentation: our patient has a clinical presentation that is typical for ataxia with oculomotor apraxia type 1 with no particularly severe phenotype.
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- 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- 22928142 A karyotype analysis and molecular testing for angelman syndrome, rett syndrome, and ataxia with oculomotor apraxia type 2 were unrevealing.
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- 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- 20301333 ataxia with oculomotor apraxia type 2
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- 23475383 ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent autosomal recessive cerebellar ataxias.
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- 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- 21465257 ataxia with oculomotor apraxia type1 (aoa1, mim 208920) is a rare autosomal recessive disease caused by mutations in the aptx gene.
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- 25787807 ataxia with oculomotor apraxia type 2: not always an easy diagnosis.
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- 20301629 ataxia with oculomotor apraxia type 1
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- 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- 24179805 ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent types of autosomal degenerative cerebellar ataxia.
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- 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- 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- 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- 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- 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- 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- 23276302 Mutations in aptx account for several neurodegenerative disorders, including ataxia with oculomotor apraxia type 1 (aoa1) [41,42].
PubMedID- 25462094 Two novel mutations of the setx gene and ataxia with oculomotor apraxia type 2.
PubMedID- 26332941 ataxia with oculomotor apraxia type 2 in the canadian aboriginal population.
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- 21502511 ataxia with oculomotor apraxia 1 is caused by mutation in the aptx gene, which encodes the dna strand-break repair protein aprataxin.
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- 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- 21112256 ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia.

Page: 1 2