| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Xuan Wu, Nan Dong, Zhensheng Liu, Tieyu Tang, Meirong Li. Case report: A novel Frontiers in neurology. vol 13. 2022-09-19. PMID:36119692. |
case report: a novel ataxia with oculomotor apraxia type 1 (aoa1) is a rare genetic disorder and is inherited in an autosomal recessive manner. |
2022-09-19 |
2023-08-14 |
Not clear |
| Sophia Caldas Gonzaga da Costa, Flávio C de Rezende-Filho, Júlian Leticia de Freitas, Paula Camila Alves de Assis Pereira Matos, Bruno Della-Ripa, Marcondes Cavalcante França, Wilson Marques, Mariana Santos, Igor Vasconcelos Barros Cronemberger, Thiago Cardoso Vale, Fernando Kok, Isabel Alonso, José Luiz Pedroso, Orlando G P Barsottin. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia. Movement disorders : official journal of the Movement Disorder Society. 2022-04-15. PMID:35426160. |
clinical and genetic characterization of brazilian patients with ataxia and oculomotor apraxia. |
2022-04-15 |
2023-08-13 |
Not clear |
| Sophia Caldas Gonzaga da Costa, Flávio C de Rezende-Filho, Júlian Leticia de Freitas, Paula Camila Alves de Assis Pereira Matos, Bruno Della-Ripa, Marcondes Cavalcante França, Wilson Marques, Mariana Santos, Igor Vasconcelos Barros Cronemberger, Thiago Cardoso Vale, Fernando Kok, Isabel Alonso, José Luiz Pedroso, Orlando G P Barsottin. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia. Movement disorders : official journal of the Movement Disorder Society. 2022-04-15. PMID:35426160. |
ataxia with oculomotor apraxia (aoa) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. |
2022-04-15 |
2023-08-13 |
Not clear |
| Panagiotis Kassavetis, Diego Kaski, Tim Anderson, Mark Hallet. Eye Movement Disorders in Movement Disorders. Movement disorders clinical practice. vol 9. issue 3. 2022-04-11. PMID:35402641. |
in ataxia, nystagmus is common, but other findings such as oculomotor apraxia, supranuclear gaze palsy, impaired fixation, or saccadic pursuit can contribute to diagnoses such as ataxia with oculomotor apraxia, niemann-pick type c, or ataxia telangiectasia. |
2022-04-11 |
2023-08-13 |
Not clear |
| Mariana Santos, Joana Damásio, Susana Carmona, João Luís Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, José Barros, José Brás, Jorge Sequeiros, Rita Guerreir. Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia. Cells. vol 11. issue 6. 2022-03-25. PMID:35326432. |
a phenotypic classification was performed, considering the main clinical syndromes: spastic ataxia, ataxia and neuropathy, ataxia and oculomotor apraxia (aoa), ataxia and dystonia, and ataxia with cognitive impairment. |
2022-03-25 |
2023-08-13 |
Not clear |
| Ping-I Chiang, Ting-Wei Liao, Chiung-Mei Che. A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review. Brain sciences. vol 12. issue 2. 2022-02-25. PMID:35203940. |
ataxia with oculomotor apraxia type 2 (aoa2), also known as autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (scan2) (omim #606002), is a neurodegenerative disorder characterized by early-onset progressive cerebellar ataxia, polyneuropathy, and elevated levels of alpha-fetoprotein. |
2022-02-25 |
2023-08-13 |
Not clear |
| Simra Javaid, Amanda Lindenberg, Rajashree Srinivasa. Can the ketogenic diet lead to Wernicke's encephalopathy? Journal of pediatric rehabilitation medicine. 2022-02-11. PMID:35147570. |
the classic triad of mental status changes, oculomotor abnormality, and ataxia is observed in only 16-21% of all pediatric presentations. |
2022-02-11 |
2023-08-13 |
Not clear |
| Radhakrishnan Kanagaraj, Richard Mitter, Theodoros Kantidakis, Matthew M Edwards, Anaid Benitez, Probir Chakravarty, Beiyuan Fu, Olivier Becherel, Fengtang Yang, Martin F Lavin, Amnon Koren, Aengus Stewart, Stephen C Wes. Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2. Proceedings of the National Academy of Sciences of the United States of America. vol 119. issue 4. 2022-01-19. PMID:35042798. |
integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2. |
2022-01-19 |
2023-08-13 |
Not clear |
| Aristides Hadjinicolaou, Kathie J Ngo, Daniel Y Conway, John P Provias, Steven K Baker, Lauren I Brady, Craig L Bennett, Albert R La Spada, Brent L Fogel, Grace Yoo. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta neuropathologica communications. vol 9. issue 1. 2021-12-19. PMID:34922620. |
pathogenic variants in setx cause two distinct neurological diseases, a loss-of-function recessive disorder, ataxia with oculomotor apraxia type 2 (aoa2), and a dominant gain-of-function motor neuron disorder, amyotrophic lateral sclerosis type 4 (als4). |
2021-12-19 |
2023-08-13 |
mouse |
| Michael D Perry, Martin J Evans, Philip J Byrd, Malcolm R Taylo. Biallelic Mutation of Journal of pediatric genetics. vol 10. issue 4. 2021-12-03. PMID:34849277. |
biallelic mutation of ataxia with oculomotor apraxia type 2 (aoa2) is a slowly progressive, autosomal recessive disease characterized by the triad of ataxia, oculomotor apraxia, and sensorimotor neuropathy. |
2021-12-03 |
2023-08-13 |
Not clear |
| G N Subramanian, M Lavin, H A Home. Premature ovarian ageing following heterozygous loss of Senataxin. Molecular human reproduction. vol 27. issue 2. 2021-11-17. PMID:33337500. |
homozygous mutation of setx leads to the neurodegenerative disorder, ataxia oculomotor apraxia type 2 (aoa2). |
2021-11-17 |
2023-08-13 |
mouse |
| José Luiz Pedroso, Thiago Cardoso Vale, Sophia Caldas Gonzaga da Costa, Mariana Santos, Isabel Alonso, Orlando Graziani Povoas Barsottin. Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome. Tremor and other hyperkinetic movements (New York, N.Y.). vol 10. 2021-11-15. PMID:33101765. |
complex movement disorders in ataxia with oculomotor apraxia type 1: beyond the cerebellar syndrome. |
2021-11-15 |
2023-08-13 |
Not clear |
| José Luiz Pedroso, Thiago Cardoso Vale, Sophia Caldas Gonzaga da Costa, Mariana Santos, Isabel Alonso, Orlando Graziani Povoas Barsottin. Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome. Tremor and other hyperkinetic movements (New York, N.Y.). vol 10. 2021-11-15. PMID:33101765. |
ataxia with oculomotor apraxia (aoa1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. |
2021-11-15 |
2023-08-13 |
Not clear |
| Francien A Vogelaar, Rick Brandsma, Natasha M Maurits, Deborah A Siva. Applicability of quantitative oculomotor and SARA assessment in children. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 35. 2021-11-11. PMID:34610562. |
however, quantitative oculomotor assessment is not included in the most frequently used and age-validated ataxia rating scale in children, the scale for the assessment and rating of ataxia (sara). |
2021-11-11 |
2023-08-13 |
Not clear |
| Nicolas Mary, Anne Calgaro, Harmonie Barasc, Nathalie Bonnet, Stéphane Ferchaud, Isabelle Raymond-Letron, Alain Ducos, Alain Pinto. Meiotic Silencing in Pigs: A Case Study in a Translocated Azoospermic Boar. Genes. vol 12. issue 8. 2021-11-08. PMID:34440311. |
additionally, γh2ax signals were observed on apparently synapsed autosomes other than the ssc1 or ssc15, as previously observed in ataxia with oculomotor apraxia type 2 patients or knock-out mice for the senataxin gene. |
2021-11-08 |
2023-08-13 |
mouse |
| T Benke, F Dazinger, R Pechlaner, K Willeit, J Clausen, M Knoflac. Lesion topography of posterior cerebral artery infarcts. Journal of the neurological sciences. vol 428. 2021-10-05. PMID:34371243. |
consistent with this lesion pattern, visual field defects (vfd) were the most frequent signs, followed by sensorimotor signs, dizziness and sopor, cognitive and oculomotor deficits, and ataxia. |
2021-10-05 |
2023-08-13 |
human |
| Mohammed A Al-Muhaizea, Hanouf Aldeeb, Rawan Almass, Hadeel Jaber, Felwa Binhumaid, Laila Alquait, Musaad Abukhalid, Hesham Aldhalaan, Maysoon Alsagob, Albandary Al-Bakheet, Mazhor Aldosary, Hadeel Alkofide, Maha M Alrasheed, Dilek Colak, Namik Kay. Genetics of ataxia telangiectasia in a highly consanguineous population. Annals of human genetics. 2021-09-28. PMID:34582042. |
it usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed movement disorders. |
2021-09-28 |
2023-08-13 |
Not clear |
| Yasuhisa Sakurai, Toshiyuki Kakumoto, Yuto Takenaka, Hideyuki Matsumot. Asymmetric Bálint's syndrome with multimodal agnosia, bilateral agraphesthesia, and ineffective kinesthetic reading due to subcortical hemorrhage in the left parieto-occipito-temporal area. Neurocase. vol 26. issue 6. 2021-09-22. PMID:33103577. |
we report a patient with asymmetric bálint's syndrome (predominantly right-sided oculomotor apraxia and simultanagnosia and optic ataxia for the right hemispace), and multimodal agnosia (apperceptive visual agnosia and bilateral associative tactile agnosia) with accompanying right hemianopia, bilateral agraphesthesia, hemispatial neglect, global alexia with unavailable kinesthetic reading, and lexical agraphia for kanji (japanese morphograms), after hemorrhage in the left parieto-occipito-temporal area. |
2021-09-22 |
2023-08-13 |
Not clear |
| Gulten Tuncel, Bahar Kaymakamzade, Yeliz Engindereli, Sehime G Temel, Mahmut Cerkez Ergore. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. Genes. vol 12. issue 6. 2021-09-21. PMID:34205586. |
here, we report a 17-year-old male whose main clinical findings are oculomotor apraxia and truncal ataxia. |
2021-09-21 |
2023-08-13 |
Not clear |
| A Bargagli, F Rosini, D Zanca, V Serchi, A Ruf. Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 42. issue 7. 2021-07-28. PMID:33770309. |
ataxia with oculomotor apraxia type 2 (aoa2): an eye movement study of two siblings. |
2021-07-28 |
2023-08-13 |
Not clear |