| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Brent L Foge. Autosomal-recessive cerebellar ataxias. Handbook of clinical neurology. vol 147. 2018-07-26. PMID:29325611. |
the autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically heterogeneous disorders that can occur at any age but whose onset is typically prior to adulthood. |
2018-07-26 |
2023-08-13 |
Not clear |
| Brent L Foge. Autosomal-recessive cerebellar ataxias. Handbook of clinical neurology. vol 147. 2018-07-26. PMID:29325611. |
in this review, the clinical neurogenetics of the recessive cerebellar ataxias will be discussed, including updates on recently identified novel ataxia genes, advancements in unraveling disease-specific molecular pathogenesis leading to ataxia, potential treatments under development, technologic improvements in diagnostic testing such as clinical exome sequencing, and what the future holds for clinicians and geneticists. |
2018-07-26 |
2023-08-13 |
Not clear |
| Yi Wang, Zhang-Peng Chen, Qian-Xing Zhuang, Xiao-Yang Zhang, Hong-Zhao Li, Jian-Jun Wang, Jing-Ning Zh. Role of Corticotropin-Releasing Factor in Cerebellar Motor Control and Ataxia. Current biology : CB. vol 27. issue 17. 2018-07-23. PMID:28844644. |
role of corticotropin-releasing factor in cerebellar motor control and ataxia. |
2018-07-23 |
2023-08-13 |
Not clear |
| Yi Wang, Zhang-Peng Chen, Qian-Xing Zhuang, Xiao-Yang Zhang, Hong-Zhao Li, Jian-Jun Wang, Jing-Ning Zh. Role of Corticotropin-Releasing Factor in Cerebellar Motor Control and Ataxia. Current biology : CB. vol 27. issue 17. 2018-07-23. PMID:28844644. |
notably, decreased levels of crf in the inferior olive (io), the sole origin of cerebellar climbing fibers, have been reported in patients with spinocerebellar degeneration or olivopontocerebellar atrophy [15, 16], yet little is known about the exact role of crf in cerebellar motor coordination and ataxia. |
2018-07-23 |
2023-08-13 |
Not clear |
| Flora Giocondo, Giuseppe Curci. Spinocerebellar ataxia: a critical review of cognitive and socio-cognitive deficits. The International journal of neuroscience. vol 128. issue 2. 2018-07-23. PMID:28877638. |
the term sca refers to a group of neurodegenerative disorders that have been increasingly investigated in the last years, sharing the characteristic of progressive ataxia resulting from degeneration of cerebellum and its connections. |
2018-07-23 |
2023-08-13 |
Not clear |
| Alice Karam, Yvon Trottie. Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7. Advances in experimental medicine and biology. vol 1049. 2018-07-09. PMID:29427104. |
sca7 is part of the large family of autosomal dominant cerebellar ataxias (adcas), and was estimated to account for 1-11.7% of adcas in diverse populations. |
2018-07-09 |
2023-08-13 |
Not clear |
| Shih-Chieh Chiang, Kirsty Liversidge, Sherif F El-Khamis. Studying TDP1 Function in DNA Repair. Methods in molecular biology (Clifton, N.J.). vol 1703. 2018-07-05. PMID:29177742. |
depletion of tdp1 sensitizes tumor cells with defective dna repair capacity to the genotoxic effect of top1 poisons, while homozygous mutation of the catalytic residue of tdp1 is associated with cerebellar degeneration and ataxia. |
2018-07-05 |
2023-08-13 |
Not clear |
| Eiichiro Amano, Tetsuya Komatuzaki, Hideaki Ishido, Tasuku Ishihara, Shinichi Otsu, Ichiro Yamada, Akira Machid. Pitfalls in the diagnosis of pupil-sparing oculomotor nerve palsy without limb ataxia: A case report of a variant of Claude's syndrome and neuroanatomical analysis using diffusion-tensor imaging. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 47. 2018-07-02. PMID:29066240. |
mri and diffusion tensor imaging revealed that midbrain infarction was located rostrally above the decussation of the superior cerebellar peduncle (scp) and might have partially destructed the tectospinal tract, which resulted in the absence of limb ataxia and presence of subtle truncal ataxia. |
2018-07-02 |
2023-08-13 |
Not clear |
| Frederique Boonstra, Grace Florescu, Andrew Evans, Chris Steward, Peter Mitchell, Patricia Desmond, Brad Moffat, Helmut Butzkueven, Scott Kolbe, Anneke van der Wal. Tremor in multiple sclerosis is associated with cerebello-thalamic pathology. Journal of neural transmission (Vienna, Austria : 1996). vol 124. issue 12. 2018-06-25. PMID:29098451. |
cerebellar dysfunction was assessed using the scale for the assessment and rating of ataxia. |
2018-06-25 |
2023-08-13 |
human |
| Sriram Jayabal, Hui Ho Vanessa Chang, Kathleen E Cullen, Alanna J Wat. 4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6. Scientific reports. vol 6. 2018-06-04. PMID:27381005. |
4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6. |
2018-06-04 |
2023-08-13 |
mouse |
| Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serran. A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG). Orphanet journal of rare diseases. vol 12. issue 1. 2018-05-21. PMID:28915903. |
we aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (pmm2-cdg) using the international cooperative ataxia rating scale (icars). |
2018-05-21 |
2023-08-13 |
Not clear |
| Kathryn M Hewett, Brett Lorenzetti, Benjamin F Jackso. Ataxia and Headache in a Child: A Case of Acute Cerebellar Infarction. Pediatric emergency care. vol 33. issue 8. 2018-05-02. PMID:28777266. |
ataxia and headache in a child: a case of acute cerebellar infarction. |
2018-05-02 |
2023-08-13 |
Not clear |
| Monia B Hammer, Jinhui Ding, Fanny Mochel, Ghada Eleuch-Fayache, Perrine Charles, Marie Coutelier, J Raphael Gibbs, Sampath K Arepalli, Sean B Chong, Dena G Hernandez, Elisa Majounie, Steven Clipman, Yosr Bouhlal, Houda Nehdi, Alexis Brice, Faycal Hentati, Giovanni Stevanin, Rim Amouri, Alexandra Durr, Andrew B Singleto. SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neuro-degenerative diseases. vol 17. issue 4-5. 2018-04-25. PMID:28558379. |
autosomal recessive cerebellar ataxias (arca) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. |
2018-04-25 |
2023-08-13 |
Not clear |
| Takemitsu Hayashi, Tomoya Onozato, Isao Wanajo, Morimichi Hayashi, Hiroo Takeda, Yoshikazu Fujimor. Longitudinal analysis of motor symptoms and histopathology in woozy mice, a model of cerebellar ataxia. Neuroreport. vol 28. issue 13. 2018-04-23. PMID:28723727. |
apart from the cerebellar changes, we detected no other pathology that could contribute toward ataxia. |
2018-04-23 |
2023-08-13 |
mouse |
| Takemitsu Hayashi, Tomoya Onozato, Isao Wanajo, Morimichi Hayashi, Hiroo Takeda, Yoshikazu Fujimor. Longitudinal analysis of motor symptoms and histopathology in woozy mice, a model of cerebellar ataxia. Neuroreport. vol 28. issue 13. 2018-04-23. PMID:28723727. |
homozygous wz mice showed adult-onset ataxia with progressive neurodegeneration of the cerebellum. |
2018-04-23 |
2023-08-13 |
mouse |
| Takemitsu Hayashi, Tomoya Onozato, Isao Wanajo, Morimichi Hayashi, Hiroo Takeda, Yoshikazu Fujimor. Longitudinal analysis of motor symptoms and histopathology in woozy mice, a model of cerebellar ataxia. Neuroreport. vol 28. issue 13. 2018-04-23. PMID:28723727. |
homozygous wz mice might be useful as an animal model of diseases showing adult-onset ataxia because of cerebellar neurodegeneration. |
2018-04-23 |
2023-08-13 |
mouse |
| Chunyi Liu, Mei Mei, Qiuling Li, Peristera Roboti, Qianqian Pang, Zhengzhou Ying, Fei Gao, Martin Lowe, Shilai Ba. Loss of the golgin GM130 causes Golgi disruption, Purkinje neuron loss, and ataxia in mice. Proceedings of the National Academy of Sciences of the United States of America. vol 114. issue 2. 2018-04-09. PMID:28028212. |
these cellular defects manifest as reduced cerebellar size and purkinje cell number, leading to ataxia. |
2018-04-09 |
2023-08-13 |
mouse |
| Mariano Serrao, Giorgia Chini, Carlo Casali, Carmela Conte, Martina Rinaldi, Alberto Ranavolo, Christian Marcotulli, Luca Leonardi, Gaia Fragiotta, Fabiano Bini, Gianluca Coppola, Francesco Pierell. Progression of Gait Ataxia in Patients with Degenerative Cerebellar Disorders: a 4-Year Follow-Up Study. Cerebellum (London, England). vol 16. issue 3. 2018-03-20. PMID:27924492. |
in the present study, the progression of gait impairment in a group of patients with primary degenerative cerebellar ataxias was observed over a period of 4 years. |
2018-03-20 |
2023-08-13 |
Not clear |
| Mariano Serrao, Giorgia Chini, Carlo Casali, Carmela Conte, Martina Rinaldi, Alberto Ranavolo, Christian Marcotulli, Luca Leonardi, Gaia Fragiotta, Fabiano Bini, Gianluca Coppola, Francesco Pierell. Progression of Gait Ataxia in Patients with Degenerative Cerebellar Disorders: a 4-Year Follow-Up Study. Cerebellum (London, England). vol 16. issue 3. 2018-03-20. PMID:27924492. |
our findings suggest that patients with degenerative cerebellar ataxias exhibit gait decline after 4 years from the baseline. |
2018-03-20 |
2023-08-13 |
Not clear |
| O Gebus, S Montaut, B Monga, T Wirth, C Cheraud, C Alves Do Rego, I Zinchenko, G Carré, M Hamdaoui, G Hautecloque, L Nguyen-Them, B Lannes, J B Chanson, O Lagha-Boukbiza, M C Fleury, D Devys, G Nicolas, G Rudolf, M Bereau, M Mallaret, M Renaud, C Acquaviva, M Koenig, M Koob, S Kremer, I J Namer, C Cazeneuve, A Echaniz-Laguna, C Tranchant, Mathieu Anhei. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. Journal of neurology. vol 264. issue 6. 2018-03-19. PMID:28478596. |
deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. |
2018-03-19 |
2023-08-13 |
Not clear |