| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Marie Y Davis, C Dirk Keene, Phillip D Swanson, Conor Sheehy, Thomas D Bir. Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. Journal of the neurological sciences. vol 335. issue 1-2. 2014-07-07. PMID:24090759. |
ataxia telangiectasia (at) and ataxia oculomotor apraxia type 2 (aoa2) are autosomal recessive ataxias caused by mutations in genes involved in maintaining dna integrity. |
2014-07-07 |
2023-08-12 |
Not clear |
| Adrián Tóth, Gabriella Aradi, György Várallyay, Zsuzsanna Arányi, Dániel Bereczki, Ildikó Vastag. [Wernicke's encephalopathy induced by the use of diet pills and unbalanced diet]. Orvosi hetilap. vol 155. issue 12. 2014-05-22. PMID:24631935. |
authors report the case of a 23-year-old woman who developed oculomotor dysfunction, encephalopathy and ataxia as a result of an extreme diet and use of diet pills. |
2014-05-22 |
2023-08-12 |
Not clear |
| Kathleen Claes, Julie Depuydt, A Malcolm R Taylor, James I Last, Annelot Baert, Peter Schietecatte, Veerle Vandersickel, Bruce Poppe, Kim De Leeneer, Marc D'Hooghe, Anne Vra. Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. Neuromolecular medicine. vol 15. issue 3. 2014-04-15. PMID:23632773. |
our patient presented with mild dystonia, moderately dysarthric speech, increased serum α-fetoprotein but no ataxia nor telangiectasias, no nystagmus or oculomotor dyspraxia. |
2014-04-15 |
2023-08-12 |
Not clear |
| Zsuzsanna Soós, Mónika Salamon, Roland Oláh, Anna Czégeni, Ferenc Salamon, András Folyovich, Gábor Winkle. [Wernicke encephalopathy accompanying linitis plastica]. Orvosi hetilap. vol 155. issue 1. 2014-03-28. PMID:24379094. |
in the classical form it is characterized by a typical triad (confusion, oculomotor disturbance and ataxia), however, in the majority of the cases only confusion is present. |
2014-03-28 |
2023-08-12 |
human |
| Nicole I Wolf, Michel Koeni. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. Handbook of clinical neurology. vol 113. 2014-03-27. PMID:23622410. |
in several of the hereditary ataxias, the causative gene plays an important role in dna repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and ataxia with oculomotor apraxia type i and ii. |
2014-03-27 |
2023-08-12 |
Not clear |
| Neil Datta, Anna Hohle. A new SETX mutation producing AOA2 in two siblings. The International journal of neuroscience. vol 123. issue 9. 2014-03-19. PMID:23566282. |
in this paper, we document two cases of a new setx mutation (820:a>g) combined with an established recessive setx mutation (5927:t>g) causing ataxia with oculomotor apraxia type 2 (aoa2). |
2014-03-19 |
2023-08-12 |
Not clear |
| Suman Jayadev, Thomas D Bir. Hereditary ataxias: overview. Genetics in medicine : official journal of the American College of Medical Genetics. vol 15. issue 9. 2014-03-10. PMID:23538602. |
autosomal recessive ataxias usually have onset in childhood; the most common subtypes are -friedreich, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1, and ataxia with oculomotor apraxia type 2. |
2014-03-10 |
2023-08-12 |
Not clear |
| Muriel Panouillères, Solène Frismand, Olivier Sillan, Christian Urquizar, Alain Vighetto, Denis Pélisson, Caroline Tiliket. Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. Cerebellum (London, England). vol 12. issue 4. 2014-03-03. PMID:23475383. |
saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. |
2014-03-03 |
2023-08-12 |
human |
| Muriel Panouillères, Solène Frismand, Olivier Sillan, Christian Urquizar, Alain Vighetto, Denis Pélisson, Caroline Tiliket. Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. Cerebellum (London, England). vol 12. issue 4. 2014-03-03. PMID:23475383. |
ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent autosomal recessive cerebellar ataxias. |
2014-03-03 |
2023-08-12 |
human |
| Percy Tumbale, Jessica S Williams, Matthew J Schellenberg, Thomas A Kunkel, R Scott William. Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity. Nature. vol 506. issue 7486. 2014-02-18. PMID: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. |
2014-02-18 |
2023-08-12 |
human |
| Anne Noreau, Cynthia V Bourassa, Anna Szuto, Annie Levert, Sylvia Dobrzeniecka, Julie Gauthier, Sylvie Forlani, Alexandra Durr, Mathieu Anheim, Giovanni Stevanin, Alexis Brice, Jean-Pierre Bouchard, Patrick A Dion, Nicolas Dupré, Guy A Roulea. SYNE1 mutations in autosomal recessive cerebellar ataxia. JAMA neurology. vol 70. issue 10. 2014-02-14. PMID:23959263. |
autosomal recessive cerebellar ataxia type i, also known as recessive ataxia of beauce, is a slowly progressive ataxia that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild oculomotor abnormalities, and diffuse cerebellar atrophy on brain imaging. |
2014-02-14 |
2023-08-12 |
Not clear |
| Lorenzo Nanetti, Simona Cavalieri, Viviana Pensato, Alessandra Erbetta, Davide Pareyson, Marta Panzeri, Giovanna Zorzi, Carlo Antozzi, Isabella Moroni, Cinzia Gellera, Alfredo Brusco, Caterina Mariott. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Orphanet journal of rare diseases. vol 8. 2014-01-02. PMID:23941260. |
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). |
2014-01-02 |
2023-08-12 |
Not clear |
| Patricia Richard, Shuang Feng, James L Manle. A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage. Genes & development. vol 27. issue 20. 2013-12-13. PMID:24105744. |
senataxin (setx) is an rna/dna helicase implicated in transcription termination and the dna damage response and is mutated in two distinct neurological disorders: aoa2 (ataxia oculomotor apraxia 2) and als4 (amyotrophic lateral sclerosis 4). |
2013-12-13 |
2023-08-12 |
Not clear |
| M F Alexandre, S Rivaud-Péchoux, G Challe, A Durr, B Gaymar. Functional consequences of oculomotor disorders in hereditary cerebellar ataxias. Cerebellum (London, England). vol 12. issue 3. 2013-12-04. PMID:23239280. |
functional consequences of oculomotor disorders in hereditary cerebellar ataxias. |
2013-12-04 |
2023-08-12 |
human |
| Solène Frismand, Hannoun Salem, Muriel Panouilleres, Denis Pélisson, Stéphane Jacobs, Alain Vighetto, François Cotton, Caroline Tiliket. MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus. NeuroImage. Clinical. vol 2. 2013-11-01. PMID:24179805. |
ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent types of autosomal degenerative cerebellar ataxia. |
2013-11-01 |
2023-08-12 |
human |
| Solène Frismand, Hannoun Salem, Muriel Panouilleres, Denis Pélisson, Stéphane Jacobs, Alain Vighetto, François Cotton, Caroline Tiliket. MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus. NeuroImage. Clinical. vol 2. 2013-11-01. PMID:24179805. |
the percentage of atrophy was the highest for the vermis, consistent with patients' oculomotor presentation, and for the anterior lobe, consistent with kinetic limb ataxia. |
2013-11-01 |
2023-08-12 |
human |
| Solène Frismand, Hannoun Salem, Muriel Panouilleres, Denis Pélisson, Stéphane Jacobs, Alain Vighetto, François Cotton, Caroline Tiliket. MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus. NeuroImage. Clinical. vol 2. 2013-11-01. PMID:24179805. |
this study suggests that patients with ataxia with oculomotor apraxia type 2 present mri patterns consistent with their clinical presentation. |
2013-11-01 |
2023-08-12 |
human |
| Morten Scheibye-Knudsen, Karsten Scheibye-Alsing, Chandrika Canugovi, Deborah L Croteau, Vilhelm A Boh. A novel diagnostic tool reveals mitochondrial pathology in human diseases and aging. Aging. vol 5. issue 3. 2013-10-01. PMID: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. |
2013-10-01 |
2023-08-12 |
human |
| Nor Azian Abdul Murad, Jason K Cullen, Matthew McKenzie, Michael T Ryan, David Thorburn, Nuri Gueven, Junya Kobayashi, Geoff Birrell, Jian Yang, Thilo Dörk, Olivier Becherel, Padraic Grattan-Smith, Martin F Lavi. Mitochondrial dysfunction in a novel form of autosomal recessive ataxia. Mitochondrion. vol 13. issue 3. 2013-09-10. PMID: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. |
2013-09-10 |
2023-08-12 |
Not clear |
| Silvia Clausi, Maria De Luca, Francesca R Chiricozzi, Anna M Tedesco, Carlo Casali, Marco Molinari, Maria G Leggi. Oculomotor deficits affect neuropsychological performance in oculomotor apraxia type 2. Cortex; a journal devoted to the study of the nervous system and behavior. vol 49. issue 3. 2013-09-09. PMID:22480402. |
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. |
2013-09-09 |
2023-08-12 |
Not clear |