| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| David G Coughlin, Ian Dryden, Vanessa S Goodwill, Donald P Pizzo, Brenton Wright, Stephanie Lessig, Douglas Galasko, Ian R MacKenzie, Annie Hinike. Longstanding Multiple System Atrophy-Parkinsonism with Limbic and FTLD-type α-Synuclein Pathology. Neuropathology and applied neurobiology. 2021-11-30. PMID:34847258. |
multiple system atrophy (msa) is a sporadic neurodegenerative disease clinically marked by autonomic failure and variable degrees of parkinsonism and cerebellar ataxias. |
2021-11-30 |
2023-08-13 |
Not clear |
| Ana Moreira-de-Sá, Francisco Q Gonçalves, João P Lopes, Henrique B Silva, Ângelo R Tomé, Rodrigo A Cunha, Paula M Cana. Motor Deficits Coupled to Cerebellar and Striatal Alterations in Ube3a Molecular neurobiology. vol 58. issue 6. 2021-11-24. PMID:33464534. |
motor deficits coupled to cerebellar and striatal alterations in ube3a angelman syndrome (as) is a neurogenetic disorder involving ataxia and motor dysfunction, resulting from the absence of the maternally inherited functional ube3a protein in neurons. |
2021-11-24 |
2023-08-13 |
Not clear |
| Russell S Dulman, James Auta, Gabriela M Wandling, Ryan Patwell, Huaibo Zhang, Subhash C Pande. Persistence of cerebellar ataxia during chronic ethanol exposure is associated with epigenetic up-regulation of Fmr1 gene expression in rat cerebellum. Alcoholism, clinical and experimental research. vol 45. issue 10. 2021-11-23. PMID:34453331. |
alcohol intoxication produces ataxia by affecting the cerebellum, which coordinates movements. |
2021-11-23 |
2023-08-13 |
rat |
| Russell S Dulman, James Auta, Gabriela M Wandling, Ryan Patwell, Huaibo Zhang, Subhash C Pande. Persistence of cerebellar ataxia during chronic ethanol exposure is associated with epigenetic up-regulation of Fmr1 gene expression in rat cerebellum. Alcoholism, clinical and experimental research. vol 45. issue 10. 2021-11-23. PMID:34453331. |
we recently demonstrated that acute ethanol-induced ataxia is associated with increased cerebellar fmr1 gene expression via histone modifications in rats, but it is unknown whether similar behavioral and molecular changes occur following chronic ethanol exposure. |
2021-11-23 |
2023-08-13 |
rat |
| Russell S Dulman, James Auta, Gabriela M Wandling, Ryan Patwell, Huaibo Zhang, Subhash C Pande. Persistence of cerebellar ataxia during chronic ethanol exposure is associated with epigenetic up-regulation of Fmr1 gene expression in rat cerebellum. Alcoholism, clinical and experimental research. vol 45. issue 10. 2021-11-23. PMID:34453331. |
here, we investigated the effects of chronic ethanol exposure on ataxia and epigenetically regulated changes in fmr1 expression in the cerebellum. |
2021-11-23 |
2023-08-13 |
rat |
| Ivana Rocha Raslan, Paula Camila Alves de Assis Pereira Matos, Vinícius Boaratti Ciarlariello, Karyme Hussein Daghastanli, Augusto Bragança Reis Rosa, Juliana Harumi Arita, Carolina Sanchez Aranda, Orlando Graziani Povoas Barsottini, José Luiz Pedros. Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders. Movement disorders clinical practice. vol 8. issue 1. 2021-11-20. PMID:33426167. |
ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. |
2021-11-20 |
2023-08-13 |
Not clear |
| Marie Coutelier, Maxime Jacoupy, Alexandre Janer, Flore Renaud, Nicolas Auger, Ganapathi-Varma Saripella, François Ancien, Fabrizio Pucci, Marianne Rooman, Dimitri Gilis, Roxanne Larivière, Nicolas Sgarioto, Rémi Valter, Léna Guillot-Noel, Isabelle Le Ber, Sabrina Sayah, Perrine Charles, Astrid Nümann, Martje G Pauly, Christoph Helmchen, Natalie Deininger, Tobias B Haack, Bernard Brais, Alexis Brice, David-Alexandre Trégouët, Khalid H El Hachimi, Eric A Shoubridge, Alexandra Durr, Giovanni Stevani. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain : a journal of neurology. 2021-11-17. PMID:34788392. |
with more than forty causative genes identified so far, autosomal dominant cerebellar ataxias exhibit a remarkable genetic heterogeneity. |
2021-11-17 |
2023-08-13 |
Not clear |
| Marie Coutelier, Maxime Jacoupy, Alexandre Janer, Flore Renaud, Nicolas Auger, Ganapathi-Varma Saripella, François Ancien, Fabrizio Pucci, Marianne Rooman, Dimitri Gilis, Roxanne Larivière, Nicolas Sgarioto, Rémi Valter, Léna Guillot-Noel, Isabelle Le Ber, Sabrina Sayah, Perrine Charles, Astrid Nümann, Martje G Pauly, Christoph Helmchen, Natalie Deininger, Tobias B Haack, Bernard Brais, Alexis Brice, David-Alexandre Trégouët, Khalid H El Hachimi, Eric A Shoubridge, Alexandra Durr, Giovanni Stevani. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain : a journal of neurology. 2021-11-17. PMID:34788392. |
our results establish nptx1 as a new causative gene in autosomal dominant cerebellar ataxias. |
2021-11-17 |
2023-08-13 |
Not clear |
| Jonathan Doan, Irfan Sheikh, Lawrence Elmer, Mehmood Rashi. Video Representation of Dopamine-Responsive Multiple System Atrophy Cerebellar Type. The American journal of case reports. vol 22. 2021-11-16. PMID:34776506. |
background multiple system atrophy cerebellar type (msa-c) is a subtype of msa that presents with predominant ataxia along with lesser signs of parkinsonism and autonomic dysfunction. |
2021-11-16 |
2023-08-13 |
Not clear |
| Ahmet Cevdet Ceylan, Elif Acar Arslan, Haktan Bağış Erdem, Haluk Kavus, Mutluay Arslan, Haluk Topaloğl. Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. Acta neurologica Belgica. vol 121. issue 6. 2021-11-15. PMID:32170608. |
autosomal recessive cerebellar ataxias (arca) are characterized by the abnormal structure of the cerebellum and spinal cord. |
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. |
complex movement disorders in ataxia with oculomotor apraxia type 1: beyond the cerebellar syndrome. |
2021-11-15 |
2023-08-13 |
Not clear |
| Nadia Amokrane, Chi-Ying R Lin, Natasha A Desai, Sheng-Han Ku. The Impact of Compulsivity and Impulsivity in Cerebellar Ataxia: A Case Series. Tremor and other hyperkinetic movements (New York, N.Y.). vol 10. 2021-11-15. PMID:33133767. |
the cerebellum has recently been identified to have a key role in reward processing, and individuals with ataxia have been found to be more impulsive and compulsive as part of cerebellum-related cognitive and behavioral disturbances. |
2021-11-15 |
2023-08-13 |
Not clear |
| I Rouco Axpe, A Loyola Irulegui, B Ruiz de la Peña, E Izarzugaza Iturriza. Hereditary cerebellar ataxias and hereditary spastic paraplegias: experience of disease from the patient's perspective. Neurologia (Barcelona, Spain). vol 36. issue 9. 2021-11-15. PMID:34294581. |
hereditary cerebellar ataxias and hereditary spastic paraplegias: experience of disease from the patient's perspective. |
2021-11-15 |
2023-08-13 |
Not clear |
| Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, Giulia Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza M Valente, Vincenzo Leuzz. Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human mutation. 2021-11-15. PMID:34747546. |
two siblings displayed nonprogressive congenital ataxia and shrunken cerebellum on magnetic resonance imaging. |
2021-11-15 |
2023-08-13 |
Not clear |
| Angela Sanna, Paolo Follesa, Paolo Tacconi, Mariangela Serra, Maria Giuseppina Pisu, Viola Cocco, Michela Figorilli, Giovanni Defazio, Monica Pulighedd. Therapeutic Use of Cerebellar Intermittent Theta Burst Stimulation (iTBS) in a Sardinian Family Affected by Spinocerebellar Ataxia 38 (SCA 38). Cerebellum (London, England). 2021-11-11. PMID:34410614. |
afterwards, patients were exposed to ten sessions of cerebellar real and sham itbs in a cross-over study and clinical symptoms were evaluated before and after treatment by modified international cooperative ataxia rating scale (micars). |
2021-11-11 |
2023-08-13 |
Not clear |
| Joana Damásio, Mariana Santos, Raquel Samões, Maria Araújo, Mafalda Macedo, Ana Sardoeira, Sara Cavaco, Joel Freitas, José Barros, Jorge Oliveira, Jorge Sequeiro. Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype. Clinical genetics. vol 100. issue 6. 2021-11-11. PMID:34477219. |
hereditary cerebellar ataxias comprise a heterogeneous group of neurodegenerative disorders affecting the cerebellum and/or cerebellar pathways. |
2021-11-11 |
2023-08-13 |
Not clear |
| Joana Damásio, Mariana Santos, Raquel Samões, Maria Araújo, Mafalda Macedo, Ana Sardoeira, Sara Cavaco, Joel Freitas, José Barros, Jorge Oliveira, Jorge Sequeiro. Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype. Clinical genetics. vol 100. issue 6. 2021-11-11. PMID:34477219. |
our findings highlight the possible role of kmt2b as a gene involved in hereditary cerebellar ataxias. |
2021-11-11 |
2023-08-13 |
Not clear |
| Srikrishna V Malayala, Praveena Jaidev, Rachana Vanaparthy, Taranjeet S Joll. Acute COVID-19 Cerebellitis: A Rare Neurological Manifestation of COVID-19 Infection. Cureus. vol 13. issue 10. 2021-11-11. PMID:34754665. |
neurological exam was consistent with cerebellar symptoms like broad bases gait, truncal ataxia and subsequent imaging revealed white matter degeneration and edema of the cerebellar hemispheres. |
2021-11-11 |
2023-08-13 |
Not clear |
| Aparna S Chivukula, Mariia Suslova, Daniel Kortzak, Peter Kovermann, Christoph Fahlk. Functional consequences of SLC1A3 mutations associated with episodic ataxia 6. Human mutation. vol 41. issue 11. 2021-11-10. PMID:32741053. |
the episodic ataxias (ea) are a group of inherited neurological diseases characterized by paroxysmal cerebellar incoordination. |
2021-11-10 |
2023-08-13 |
Not clear |
| M Hadjivassiliou, P G Sarrigiannis, P D Shanmugarajah, D S Sanders, R A Grünewald, P Zis, N Hoggar. Clinical Characteristics and Management of 50 Patients with Anti-GAD Ataxia: Gluten-Free Diet Has a Major Impact. Cerebellum (London, England). vol 20. issue 2. 2021-11-05. PMID:33084997. |
gaze-evoked nystagmus was present in 26%, cerebellar dysarthria in 26%, limb ataxia in 44% and gait ataxia in 100%. |
2021-11-05 |
2023-08-13 |
Not clear |