| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sara Satolli, Rosa De Micco, Daniele Galatolo, Alessandra Tessa, Mario Cirillo, Alessandro Tessitore, Filippo Maria Santorell. A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia. Movement disorders clinical practice. 2024-06-17. PMID:38881152. |
a novel compound heterozygous mutation in aprataxin causes slowly progressive ataxia without oculomotor apraxia. |
2024-06-17 |
2024-06-19 |
Not clear |
| G Clément, S Puisieux, D Pellerin, B Brais, C Bonnet, M Renau. Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia. Revue neurologique. 2024-04-12. PMID:38609751. |
the core phenotype of the disease consists of slowly progressive late-onset ataxia with cerebellar syndrome, oculomotor disorders including downbeat nystagmus, and episodic symptoms such as diplopia. |
2024-04-12 |
2024-04-15 |
Not clear |
| Alberto Imarisio, Andrea Pilotto, Alessandro Lupini, Giorgio Biasiotto, Isabella Zanella, Riccardo Currò, Elisa Vegezzi, Andrea Cortese, Ilaria Palmieri, Enza Maria Valente, Alessandro Padovan. Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report. Parkinsonism & related disorders. vol 123. 2024-03-31. PMID:38555792. |
we describe here a 73-year-old patient presenting with atypical msa-p-like phenotype carrying a monoallelic p. w279x mutation in the aptx gene, which causes ataxia with oculomotor apraxia type 1 (aoa1) when in homozygous state. |
2024-03-31 |
2024-04-03 |
Not clear |
| Salah A Elmali. Electrophysiology of ataxia-telangiectasia-like disorder 1. Sudanese journal of paediatrics. vol 23. issue 2. 2024-02-21. PMID:38380400. |
ataxia-telangiectasia-like disorder-1 (atld1, omim # 604391) is a very rare clinical condition, characterized by slowly progressive ataxia with onset in childhood, associated with oculomotor apraxia and dysarthria. |
2024-02-21 |
2024-02-23 |
Not clear |
| Stefan Gafoor, Raheem Robertso. Silent Echoes: A Case Report of Wernicke Encephalopathy's Unheard Voice. Cureus. vol 16. issue 1. 2024-02-13. PMID:38347991. |
the diagnosis is mainly clinical and based on the presence of symptoms in the classic triad of mental status change, oculomotor abnormality, and ataxia. |
2024-02-13 |
2024-02-15 |
Not clear |
| David J Szmulewicz, Rocco Galli, Alexander A Tarnutze. Patient-Related Outcome Measures for Oculomotor Symptoms in the Cerebellar Ataxias: Insights from Non-Cerebellar Disorders. Cerebellum (London, England). 2024-01-12. PMID:38214833. |
patient-related outcome measures for oculomotor symptoms in the cerebellar ataxias: insights from non-cerebellar disorders. |
2024-01-12 |
2024-01-14 |
human |
| Helena B Madsen, Louise I Pease, Rebekah-Louise Scanlan, Mansour Akbari, Lene J Rasmussen, Daryl P Shanley, Vilhelm A Boh. The DNA repair enzyme, aprataxin, plays a role in innate immune signaling. Frontiers in aging neuroscience. vol 15. 2024-01-01. PMID:38161589. |
ataxia with oculomotor apraxia type 1 (aoa1) is a progressive neurodegenerative disorder characterized by a gradual loss of coordination of hand movements, speech, and eye movements. |
2024-01-01 |
2024-01-05 |
Not clear |
| 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 |