| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Dur. Hereditary ataxias and paraparesias: clinical and genetic update. Current opinion in neurology. vol 31. issue 4. 2019-02-21. PMID:29847346. |
this review aims at updating the clinical and genetic aspects of hereditary spastic paraplegias (hsps) and hereditary cerebellar ataxias (hcas), focusing on the concept of spastic-ataxia phenotypic spectrum and on newly identified clinical overlaps with other neurological and nonneurological diseases. |
2019-02-21 |
2023-08-13 |
Not clear |
| David D Bushart, Vikram G Shakkotta. Ion channel dysfunction in cerebellar ataxia. Neuroscience letters. vol 688. 2019-02-18. PMID:29421541. |
cerebellar ataxias constitute a heterogeneous group of disorders that result in impaired speech, uncoordinated limb movements, and impaired balance, often ultimately resulting in wheelchair confinement. |
2019-02-18 |
2023-08-13 |
Not clear |
| David D Bushart, Vikram G Shakkotta. Ion channel dysfunction in cerebellar ataxia. Neuroscience letters. vol 688. 2019-02-18. PMID:29421541. |
motor dysfunction in ataxia can be attributed to dysfunction and degeneration of neurons in the cerebellum and its associated pathways. |
2019-02-18 |
2023-08-13 |
Not clear |
| Kyoko Maruta, Mitsuhiro Aoki, Yoshito Sonod. [Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS): a case report]. Rinsho shinkeigaku = Clinical neurology. vol 59. issue 1. 2019-02-15. PMID:30606994. |
cerebellar ataxia with neuropathy and vestibular areflexia syndrome (canvas) is a rare form of multisystem ataxia defined by a triad of cerebellar impairment, bilateral vestibular hypofunction, and somatosensory deficit. |
2019-02-15 |
2023-08-13 |
Not clear |
| Wei Zhong, Zhihua Huang, Xiangqi Tan. A study of brain MRI characteristics and clinical features in 76 cases of Wilson's disease. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 59. 2019-02-13. PMID:30385165. |
ataxia was correlated with brainstem, cerebellar, and cerebral cortex lesions. |
2019-02-13 |
2023-08-13 |
human |
| Valentina Cerrato, Sara Mercurio, Ketty Leto, Elisa Fucà, Eriola Hoxha, Sara Bottes, Miriam Pagin, Marco Milanese, Chew-Yee Ngan, Giulia Concina, Sergio Ottolenghi, Chia-Lin Wei, Giambattista Bonanno, Giulio Pavesi, Filippo Tempia, Annalisa Buffo, Silvia K Nicoli. Sox2 conditional mutation in mouse causes ataxic symptoms, cerebellar vermis hypoplasia, and postnatal defects of Bergmann glia. Glia. vol 66. issue 9. 2019-02-12. PMID:29732603. |
by performing sox2 cre-mediated ablation in the developing and postnatal mouse cerebellum, we reproduced ataxia features. |
2019-02-12 |
2023-08-13 |
mouse |
| Valentina Cerrato, Sara Mercurio, Ketty Leto, Elisa Fucà, Eriola Hoxha, Sara Bottes, Miriam Pagin, Marco Milanese, Chew-Yee Ngan, Giulia Concina, Sergio Ottolenghi, Chia-Lin Wei, Giambattista Bonanno, Giulio Pavesi, Filippo Tempia, Annalisa Buffo, Silvia K Nicoli. Sox2 conditional mutation in mouse causes ataxic symptoms, cerebellar vermis hypoplasia, and postnatal defects of Bergmann glia. Glia. vol 66. issue 9. 2019-02-12. PMID:29732603. |
our results define a role for sox2 in cerebellar function and development, and identify a functional requirement for sox2 within postnatal bg, of potential relevance for ataxia in mouse mutants, and in human patients. |
2019-02-12 |
2023-08-13 |
mouse |
| Hiroshi Abe, Takashi Morishita, Kazuhiro Samura, Kenji Yagi, Masani Nonaka, Tooru Inou. Potential of Hybrid Assistive Limb Treatment for Ataxic Gait Due to Cerebellar Disorders Including Hemorrhage, Infarction, and Tumor. Acta neurochirurgica. Supplement. vol 129. 2019-01-31. PMID:30171326. |
even in cases in which the surgical procedure is successful, functional recovery is likely to be delayed because of cerebellar symptoms such as ataxia and gait disturbance. |
2019-01-31 |
2023-08-13 |
Not clear |
| Nicolas Legris, Olivier Chassin, Ghaidaa Nasser, Florence Riant, Elisabeth Tournier-Lasserve, Christian Denie. Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association. vol 28. issue 2. 2019-01-28. PMID:30501978. |
acute-onset ataxia and transient cerebellar diffusion restriction associated with a prrt2 mutation. |
2019-01-28 |
2023-08-13 |
Not clear |
| Isaac M Adanyeguh, Vincent Perlbarg, Pierre-Gilles Henry, Daisy Rinaldi, Elodie Petit, Romain Valabregue, Alexis Brice, Alexandra Durr, Fanny Moche. Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes. NeuroImage. Clinical. vol 19. 2019-01-14. PMID:29922574. |
autosomal dominant cerebellar ataxias: imaging biomarkers with high effect sizes. |
2019-01-14 |
2023-08-13 |
Not clear |
| Marija Kojic, Monika Gaik, Bence Kiska, Anna Salerno-Kochan, Sarah Hunt, Angelo Tedoldi, Sergey Mureev, Alun Jones, Belinda Whittle, Laura A Genovesi, Christelle Adolphe, Darren L Brown, Jennifer L Stow, Kirill Alexandrov, Pankaj Sah, Sebastian Glatt, Brandon J Wainwrigh. Elongator mutation in mice induces neurodegeneration and ataxia-like behavior. Nature communications. vol 9. issue 1. 2018-12-26. PMID:30097576. |
cerebellar ataxias are severe neurodegenerative disorders with an early onset and progressive and inexorable course of the disease. |
2018-12-26 |
2023-08-13 |
mouse |
| Marija Kojic, Monika Gaik, Bence Kiska, Anna Salerno-Kochan, Sarah Hunt, Angelo Tedoldi, Sergey Mureev, Alun Jones, Belinda Whittle, Laura A Genovesi, Christelle Adolphe, Darren L Brown, Jennifer L Stow, Kirill Alexandrov, Pankaj Sah, Sebastian Glatt, Brandon J Wainwrigh. Elongator mutation in mice induces neurodegeneration and ataxia-like behavior. Nature communications. vol 9. issue 1. 2018-12-26. PMID:30097576. |
in addition, we show that substantial microgliosis is triggered by the nlrp3 inflammasome pathway in the cerebellum and that blocking nlrp3 function in vivo significantly delays neuronal degeneration and the onset of ataxia in mutant animals. |
2018-12-26 |
2023-08-13 |
mouse |
| Katharina Vill, Wolfgang Müller-Felber, Dieter Gläser, Marius Kuhn, Veronika Teusch, Herbert Schreiber, Joachim Weis, Jörg Klepper, Anja Schirmacher, Astrid Blaschek, Manuela Wiessner, Tim M Strom, Bianca Dräger, Kristina Hofmeister-Kiltz, Moritz Tacke, Lucia Gerstl, Peter Young, Rita Horvath, Jan Sendere. SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Human genetics. vol 137. issue 11-12. 2018-12-11. PMID:30460542. |
mutations in the sacs gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar atrophy, spasticity and peripheral neuropathy as well as retinal abnormalities in some cases (autosomal recessive spastic ataxia of charlevoix-saguenay, arsacs). |
2018-12-11 |
2023-08-13 |
Not clear |
| Nga Chu Lui, Wing Yip Tam, Caiji Gao, Jian-Dong Huang, Chi Chiu Wang, Liwen Jiang, Wing Ho Yung, Kin Ming Kwa. Lhx1/5 control dendritogenesis and spine morphogenesis of Purkinje cells via regulation of Espin. Nature communications. vol 8. 2018-11-26. PMID:28516904. |
defects in the dendritic development of pcs thus disrupt cerebellar circuitry and cause ataxia. |
2018-11-26 |
2023-08-13 |
mouse |
| D Heidelberg, S Ronsin, F Bonneville, S Hannoun, C Tilikete, F Cotto. Main inherited neurodegenerative cerebellar ataxias, how to recognize them using magnetic resonance imaging? Journal of neuroradiology = Journal de neuroradiologie. vol 45. issue 5. 2018-11-26. PMID:29920348. |
ataxia is a neurodegenerative disease resulting from brainstem, cerebellar, and/or spinocerebellar tracts impairments. |
2018-11-26 |
2023-08-13 |
Not clear |
| D Heidelberg, S Ronsin, F Bonneville, S Hannoun, C Tilikete, F Cotto. Main inherited neurodegenerative cerebellar ataxias, how to recognize them using magnetic resonance imaging? Journal of neuroradiology = Journal de neuroradiologie. vol 45. issue 5. 2018-11-26. PMID:29920348. |
autosomal cerebellar ataxias are considered as one of the most complex group in neurogenetics. |
2018-11-26 |
2023-08-13 |
Not clear |
| César Augusto Pinheiro Ferreira Alves, Diego Cardoso Fragoso, Fabrício Guimarães Gonçalves, Victor Hugo Marussi, Lázaro Luís Faria do Amara. Cerebellar Ataxia in Children: A Clinical and MRI Approach to the Differential Diagnosis. Topics in magnetic resonance imaging : TMRI. vol 27. issue 4. 2018-11-13. PMID:30086112. |
this review outlines an update of causes of cerebellar disorders that present clinically with ataxia in the pediatric population. |
2018-11-13 |
2023-08-13 |
Not clear |
| W Ilg, M Branscheidt, A Butala, P Celnik, L de Paola, F B Horak, L Schöls, H A G Teive, A P Vogel, D S Zee, D Timman. Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice. Cerebellum (London, England). vol 17. issue 5. 2018-11-06. PMID:29656311. |
the purpose of this consensus paper is to review electrophysiological abnormalities and to provide a guideline of neurophysiological assessments in cerebellar ataxias. |
2018-11-06 |
2023-08-13 |
Not clear |
| W Ilg, M Branscheidt, A Butala, P Celnik, L de Paola, F B Horak, L Schöls, H A G Teive, A P Vogel, D S Zee, D Timman. Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice. Cerebellum (London, England). vol 17. issue 5. 2018-11-06. PMID:29656311. |
as yet, there is no established electrophysiological measure which is sensitive and specific of cerebellar dysfunction in ataxias. |
2018-11-06 |
2023-08-13 |
Not clear |
| Renu Kumari, Deepak Kumar, Samir K Brahmachari, Achal K Srivastava, Mohammed Faruq, Mitali Mukerj. Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias. Journal of genetics. vol 97. issue 3. 2018-10-29. PMID:30027898. |
paradigm for disease deconvolution in rare neurodegenerative disorders in indian population: insights from studies in cerebellar ataxias. |
2018-10-29 |
2023-08-13 |
Not clear |