| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| P R Sowmini, Sivaroja Yellaturi, S Sakthi Velayutham, Mugundhan Krishna. Spinocerebellar ataxia 46 in a young female. Journal of neurosciences in rural practice. vol 14. issue 4. 2023-12-07. PMID:38059248. |
sca 46 is a rare autosomal dominant ataxia initially described in a dutch family, clinically characterized by ataxia, peripheral neuropathy, cerebellar dysarthria, and varied oculomotor abnormalities. |
2023-12-07 |
2023-12-10 |
Not clear |
| Andrea H Németh, Chrystalina A Antoniades, Juergen Dukart, Martina Minnerop, Clara Rentz, Bart-Jan Schuman, Bart van de Warrenburg, Ilse Willemse, Enrico Bertini, Anoopum S Gupta, Carlos Bandeira de Mello Monteiro, Hajar Almoajil, Lori Quinn, Susan B Perlman, Fay Horak, Winfried Ilg, Andreas Traschütz, Adam P Vogel, Helen Dawe. Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers. Cerebellum (London, England). 2023-11-28. PMID:38015365. |
as part of the ataxia global initiative digital-motor biomarkers working group (agi wg4), aimed at evaluating key ataxia clinical domains (gait/posture, upper limb, speech and oculomotor assessments), we provide consensus guidance for use of internal smartphone sensors to assess key domains. |
2023-11-28 |
2023-11-29 |
Not clear |
| Lisa L Heusel-Gillig, Courtney D Hal. Effectiveness of Vestibular Rehabilitation for Patients with Degenerative Cerebellar Ataxia: A Retrospective Cohort Study. Brain sciences. vol 13. issue 11. 2023-11-25. PMID:38002480. |
fourteen patients had ataxia only, twenty had ataxia and oculomotor abnormalities, and eight had ataxia with oculomotor and peripheral vestibular deficits. |
2023-11-25 |
2023-11-28 |
Not clear |
| Agnieszka Bajek, Dominika Przewodowska, Dariusz Koziorowski, Maria Jędrzejowska, Stanisław Szlufi. Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature. Frontiers in neurology. vol 14. 2023-10-09. PMID:37808486. |
ataxia-telangiectasia-like disorder 1 (atld1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. |
2023-10-09 |
2023-10-15 |
Not clear |
| Mahesh Kamate, Thanuja Basavanagowd. ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein. Cerebellum (London, England). 2023-09-25. PMID:37749428. |
elevation of alpha-fetoprotein levels is an important investigative marker in the diagnosis of ataxia telangiectasia and ataxia with oculomotor apraxia syndromes. |
2023-09-25 |
2023-10-07 |
Not clear |
| Marta Giannini, Odil Porru. Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration. Biochimie. 2023-08-09. PMID:37558082. |
setx has been the focus of numerous studies since the discovery that mutations in its coding gene are the root cause of two different neurodegenerative diseases: ataxia with oculomotor apraxia type 2 (aoa2) and a juvenile form of amyotrophic lateral sclerosis (als4). |
2023-08-09 |
2023-08-16 |
Not clear |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers. Cerebellum (London, England). 2023-04-28. PMID:37117990. |
quantitative oculomotor assessment in hereditary ataxia: systematic review and consensus by the ataxia global initiative working group on digital-motor biomarkers. |
2023-04-28 |
2023-08-14 |
human |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers. Cerebellum (London, England). 2023-04-28. PMID:37117990. |
oculomotor deficits are common in hereditary ataxia, but disproportionally neglected in clinical ataxia scales and as outcome measures for interventional trials. |
2023-04-28 |
2023-08-14 |
human |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers. Cerebellum (London, England). 2023-04-28. PMID:37117990. |
in this consensus paper of the ataxia global initiative working group on digital oculomotor biomarkers, based on a systematic literature review, we propose harmonized methodology and measurement parameters for the quantitative assessment of oculomotor function in natural-history studies and clinical trials in hereditary ataxia. |
2023-04-28 |
2023-08-14 |
human |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers. Cerebellum (London, England). 2023-04-28. PMID:37117990. |
standardization of quantitative oculomotor assessments will facilitate their implementation, interpretation, and validation in clinical trials, and ultimately advance our understanding of the evolution of oculomotor network dysfunction in hereditary ataxias. |
2023-04-28 |
2023-08-14 |
human |
| Azharul Islam, Anirban Chakraborty, Stefano Gambardella, Rosa Campopiano, Altaf H Sarker, Istvan Boldogh, Tapas Hazr. Functional analysis of a conserved site mutation in the DNA processing enzyme PNKP leading to Ataxia with Oculomotor Apraxia type 4 (AOA4) in humans. The Journal of biological chemistry. 2023-04-15. PMID:37061005. |
functional analysis of a conserved site mutation in the dna processing enzyme pnkp leading to ataxia with oculomotor apraxia type 4 (aoa4) in humans. |
2023-04-15 |
2023-08-14 |
Not clear |
| Azharul Islam, Anirban Chakraborty, Stefano Gambardella, Rosa Campopiano, Altaf H Sarker, Istvan Boldogh, Tapas Hazr. Functional analysis of a conserved site mutation in the DNA processing enzyme PNKP leading to Ataxia with Oculomotor Apraxia type 4 (AOA4) in humans. The Journal of biological chemistry. 2023-04-15. PMID:37061005. |
recent reports have shown that mutation at a conserved glutamine (gln) in pnkp leads to late-onset ataxia with oculomotor apraxia type 4 (aoa4) in humans, and embryonic lethality in pigs. |
2023-04-15 |
2023-08-14 |
Not clear |
| Mehri Salari, Masoud Etemadifar, Ronak Rashedi, Sayna Mardan. A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias. Cerebellum (London, England). 2023-03-31. PMID:37000369. |
the main search keywords were ocular motor, oculomotor, eye movement, eye motility, and ocular motility, along with each ataxia subtype. |
2023-03-31 |
2023-08-14 |
Not clear |
| Marina A Shurupova, Alexander V Latano. Oculomotor Impairments in Children After Posterior Fossa Tumors Treatment. Cerebellum (London, England). 2023-03-31. PMID:37000368. |
also, we investigated the relationship between oculomotor functions and ataxia measured with international cooperative ataxia rating scale (icars). |
2023-03-31 |
2023-08-14 |
Not clear |
| Marc Rodrigo-Gisbert, Arnau Llaurado, Andres Baucells, Cristina Auger, Victoria Gonzále. Clinical Reasoning: An 82-Year-Old Woman With Subacute Ophthalmoparesis and Ataxia. Neurology. 2023-03-29. PMID:36990717. |
we present a case of an 82-year-old female with subacute altered mental status, oculomotor disturbances, and ataxia. |
2023-03-29 |
2023-08-14 |
Not clear |
| Rikiya Imamura, Mizuki Saito, Mikio Shimada, Junya Kobayashi, Masamichi Ishiai, Yoshihisa Matsumot. APTX acts in DNA double-strand break repair in a manner distinct from XRCC4. Journal of radiation research. 2023-03-20. PMID:36940705. |
aprataxin (aptx), the product of the causative gene for hereditary neurogenerative syndromes ataxia-oculomotor apraxia 1 and early onset ataxia with oculomotor apraxia and hypoalbuminemia, has an enzymatic activity of removing adenosine monophosphate from dna 5'-end, which arises from abortive ligation by dna ligases. |
2023-03-20 |
2023-08-14 |
human |
| Petra Aboulhosn, Andrew Ryu, Azadeh Shafieesabet, Anusha Lekshminarayanan, Sohni Husain, Kathryn O'Connor, Saarah D'Souza, Shannon O'Neill, Eric L Altschule. Partial Balint's syndrome and left homonymous hemianopsia presenting after resection of a right occipito-parietal glioblastoma. Neurocase. 2023-02-16. PMID:36794351. |
he presented with symptoms of horizontal oculomotor apraxia, contralateral optic ataxia and left homonymous hemianopsia. |
2023-02-16 |
2023-08-14 |
Not clear |
| Petra Aboulhosn, Andrew Ryu, Azadeh Shafieesabet, Anusha Lekshminarayanan, Sohni Husain, Kathryn O'Connor, Saarah D'Souza, Shannon O'Neill, Eric L Altschule. Partial Balint's syndrome and left homonymous hemianopsia presenting after resection of a right occipito-parietal glioblastoma. Neurocase. 2023-02-16. PMID:36794351. |
we diagnosed this patient with partial bálint's syndrome (bs)- oculomotor apraxia, optic ataxia but not simultanagnosia. |
2023-02-16 |
2023-08-14 |
Not clear |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes. Cerebellum (London, England). 2023-01-14. PMID:36640220. |
quantitative oculomotor assessment in hereditary ataxia: discriminatory power, correlation with severity measures, and recommended parameters for specific genotypes. |
2023-01-14 |
2023-08-14 |
Not clear |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes. Cerebellum (London, England). 2023-01-14. PMID:36640220. |
characterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. |
2023-01-14 |
2023-08-14 |
Not clear |