All Relations between Spinocerebellar Ataxias and cerebellum

Publication Sentence Publish Date Extraction Date Species
Chiara Marzi, Stefano Ciulli, Marco Giannelli, Andrea Ginestroni, Carlo Tessa, Mario Mascalchi, Stefano Diciott. Structural Complexity of the Cerebellum and Cerebral Cortex is Reduced in Spinocerebellar Ataxia Type 2. Journal of neuroimaging : official journal of the American Society of Neuroimaging. vol 28. issue 6. 2019-11-11. PMID:29975004. structural complexity of the cerebellum and cerebral cortex is reduced in spinocerebellar ataxia type 2. 2019-11-11 2023-08-13 Not clear
Michela Ripolone, Valeria Lucchini, Dario Ronchi, Gigliola Fagiolari, Andreina Bordoni, Francesco Fortunato, Stefania Mondello, Sara Bonato, Mirella Meregalli, Yvan Torrente, Stefania Corti, Giacomo P Comi, Maurizio Moggio, Monica Sciacc. Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1. Journal of neuroscience research. vol 96. issue 9. 2019-11-11. PMID:30113722. spinocerebellar ataxias (scas) are a genetically heterogeneous group of cerebellar degenerative disorders, characterized by progressive gait unsteadiness, hand incoordination, and dysarthria. 2019-11-11 2023-08-13 mouse
Roderick P P W M Maas, Ivan Toni, Jonne Doorduin, Thomas Klockgether, Dennis J L G Schutter, Bart P C van de Warrenbur. Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study. BMC neurology. vol 19. issue 1. 2019-11-04. PMID:31272408. cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (sca3-tdcs): rationale and protocol of a randomized, double-blind, sham-controlled study. 2019-11-04 2023-08-13 Not clear
Roderick P P W M Maas, Ivan Toni, Jonne Doorduin, Thomas Klockgether, Dennis J L G Schutter, Bart P C van de Warrenbur. Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study. BMC neurology. vol 19. issue 1. 2019-11-04. PMID:31272408. spinocerebellar ataxia type 3 (sca3) is the most common subtype among the autosomal dominant cerebellar ataxias, a group of neurodegenerative disorders for which currently no disease-specific therapy is available. 2019-11-04 2023-08-13 Not clear
Christopher J Dakin, Amy Peters, Paola Giunti, Brian L Da. Cerebellar Degeneration Increases Visual Influence on Dynamic Estimates of Verticality. Current biology : CB. vol 28. issue 22. 2019-10-23. PMID:30393031. here we show that a perceptual disturbance of verticality is indeed present in people with a genetically determined and pure form of cerebellar degeneration (spinocerebellar ataxia type 6; sca 6), but is only revealed under dynamic visual conditions. 2019-10-23 2023-08-13 human
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Sege. Mitochondrial Journal of medical genetics. vol 55. issue 9. 2019-10-17. PMID:29764912. mitochondrial to identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. 2019-10-17 2023-08-13 Not clear
Chenchen Niu, Thazah P Prakash, Aneeza Kim, John L Quach, Laryssa A Huryn, Yuechen Yang, Edith Lopez, Ali Jazayeri, Gene Hung, Bryce L Sopher, Brian P Brooks, Eric E Swayze, C Frank Bennett, Albert R La Spad. Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. Science translational medicine. vol 10. issue 465. 2019-10-11. PMID:30381411. spinocerebellar ataxia type 7 (sca7) is an autosomal dominant neurodegenerative disorder characterized by cerebellar and retinal degeneration, and is caused by a cag-polyglutamine repeat expansion in the 2019-10-11 2023-08-13 mouse
Doniparthi Venkata Seshagiri, Arun Sasidharan, Gulshan Kumar, Pramod Kumar Pal, Sanjeev Jain, Bindu M Kutty, Ravi Yada. Challenges in sleep stage R scoring in patients with autosomal dominant spinocerebellar ataxias (SCA1, SCA2 and SCA3) and oculomotor abnormalities: a whole night polysomnographic evaluation. Sleep medicine. vol 42. 2019-09-19. PMID:29458753. spinocerebellar ataxias are progressive neurodegenerative disorders characterized by progressive cerebellar features with additional neuro-axis involvement. 2019-09-19 2023-08-13 Not clear
Yuan-Shih Hu, Jeehaeh Do, Chandrakanth Reddy Edamakanti, Ameet R Kini, Marco Martina, Samuel I Stupp, Puneet Opa. Self-assembling vascular endothelial growth factor nanoparticles improve function in spinocerebellar ataxia type 1. Brain : a journal of neurology. vol 142. issue 2. 2019-09-19. PMID:30649233. we showed previously that the angiogenic and neurotrophic cytokine, vascular endothelial growth factor (vegf), is suppressed to abnormally low levels in spinocerebellar ataxia type 1 (sca1), and that replenishing vegf reverses the cerebellar pathology in sca1 mice. 2019-09-19 2023-08-13 mouse
Chandrakanth Reddy Edamakanti, Jeehaeh Do, Alessandro Didonna, Marco Martina, Puneet Opa. Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. The Journal of clinical investigation. vol 128. issue 6. 2019-09-10. PMID:29533923. mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. 2019-09-10 2023-08-13 mouse
David Genis, Sara Ortega-Cubero, Hector San Nicolás, Jordi Corral, Josep Gardenyes, Laura de Jorge, Eva López, Berta Campos, Elena Lorenzo, Raúl Tonda, Sergi Beltran, Montserrat Negre, María Obón, Brigitte Beltran, Laura Fàbregas, Berta Alemany, Fabián Márquez, Lluís Ramió-Torrentà, Jordi Gich, Víctor Volpini, Pau Pasto. Heterozygous Neurology. vol 91. issue 21. 2019-09-06. PMID:30381368. heterozygous to describe a new spinocerebellar ataxia (sca48) characterized by early cerebellar cognitive-affective syndrome (ccas) and late-onset sca. 2019-09-06 2023-08-13 Not clear
Thiago Junqueira Ribeiro Rezende, Jean Levi Ribeiro de Paiva, Alberto Rolim Muro Martinez, Iscia Lopes-Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Fernando Cendes, Marcondes C Franç. Structural signature of SCA3: From presymptomatic to late disease stages. Annals of neurology. vol 84. issue 3. 2019-08-22. PMID:30014526. machado-joseph disease (sca3/mjd) is the most frequent spinocerebellar ataxia worldwide and characterized by brainstem, basal ganglia, and cerebellar damage. 2019-08-22 2023-08-13 human
Elisabetta Indelicato, Alessandra Fanciulli, Jean Pierre Ndayisaba, Wolfgang Nachbauer, Roberta Granata, Julia Wanschitz, Michaela Wagner, Elke R Gizewski, Werner Poewe, Gregor K Wenning, Sylvia Boesc. Autonomic function testing in spinocerebellar ataxia type 2. Clinical autonomic research : official journal of the Clinical Autonomic Research Society. vol 28. issue 3. 2019-08-19. PMID:29435867. to assess whether autonomic failure belongs to the clinical spectrum of spinocerebellar ataxia type 2 (sca2), an autosomal dominant genetic disorder showing progressive cerebellar and brainstem dysfunction. 2019-08-19 2023-08-13 Not clear
Burcu Turkgenc, Burcin Sanlidag, Amber Eker, Aslı Giray, Ozgur Kutuk, Cengiz Yakicier, Aslıhan Tolun, Sehime G Teme. STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. Human mutation. vol 39. issue 10. 2019-08-13. PMID:30058754. we present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. in a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240t > c variant in the 3'utr of stub1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (scar16). 2019-08-13 2023-08-13 Not clear
Jean Ann Maguire, Alyssa L Gagne, Pedro Gonzalez-Alegre, Beverly L Davidson, Vikram Shakkottai, Paul Gadue, Deborah L Frenc. Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene. Stem cell research. vol 34. 2019-08-06. PMID:30611021. spinocerebellar ataxia type 2 (sca2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord. 2019-08-06 2023-08-13 Not clear
Alessandra Zanatta, Carlos Henrique Ferreira Camargo, Francisco Manoel Branco Germiniani, Salmo Raskin, Ana Chrystina de Souza Crippa, Hélio Afonso Ghizoni Teiv. Abnormal Findings in Polysomnographic Recordings of Patients with Spinocerebellar Ataxia Type 2 (SCA2). Cerebellum (London, England). vol 18. issue 2. 2019-07-30. PMID:30264264. spinocerebellar ataxia type 2 (sca2) is characterized by a progressive cerebellar syndrome, and additionally saccadic slowing, cognitive dysfunction, and sleep disorders. 2019-07-30 2023-08-13 human
M Aria. Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia. Neurologia (Barcelona, Spain). vol 34. issue 4. 2019-07-23. PMID:27460185. autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. 2019-07-23 2023-08-13 Not clear
Marc Corral-Juan, Carmen Serrano-Munuera, Alberto Rábano, Daniel Cota-González, Anna Segarra-Roca, Lourdes Ispierto, Antonio Tomás Cano-Orgaz, Astrid D Adarmes, Carlota Méndez-Del-Barrio, Silvia Jesús, Pablo Mir, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sánchez, Antoni Matilla-Dueña. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. Brain : a journal of neurology. vol 141. issue 7. 2019-07-17. PMID:29939198. we previously reported a novel spinocerebellar ataxia type subtype, sca37, linked to an 11-mb genomic region on 1p32, in a large spanish ataxia pedigree characterized by ataxia and a pure cerebellar syndrome distinctively presenting with early-altered vertical eye movements. 2019-07-17 2023-08-13 Not clear
Maxime W C Rousseaux, Tyler Tschumperlin, Hsiang-Chih Lu, Elizabeth P Lackey, Vitaliy V Bondar, Ying-Wooi Wan, Qiumin Tan, Carolyn J Adamski, Jillian Friedrich, Kirk Twaroski, Weili Chen, Jakub Tolar, Christine Henzler, Ajay Sharma, Aleksandar Bajić, Tao Lin, Lisa Duvick, Zhandong Liu, Roy V Sillitoe, Huda Y Zoghbi, Harry T Or. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. vol 97. issue 6. 2019-07-15. PMID:29526553. atxn1-cic complex is the primary driver of cerebellar pathology in spinocerebellar ataxia type 1 through a gain-of-function mechanism. 2019-07-15 2023-08-13 Not clear
Maxime W C Rousseaux, Tyler Tschumperlin, Hsiang-Chih Lu, Elizabeth P Lackey, Vitaliy V Bondar, Ying-Wooi Wan, Qiumin Tan, Carolyn J Adamski, Jillian Friedrich, Kirk Twaroski, Weili Chen, Jakub Tolar, Christine Henzler, Ajay Sharma, Aleksandar Bajić, Tao Lin, Lisa Duvick, Zhandong Liu, Roy V Sillitoe, Huda Y Zoghbi, Harry T Or. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. vol 97. issue 6. 2019-07-15. PMID:29526553. in spinocerebellar ataxia type 1 (sca1), a gain of function of polyq-expanded ataxin-1 (atxn1) contributes to cerebellar pathology. 2019-07-15 2023-08-13 Not clear