All Relations between Spinocerebellar Ataxias and cerebellum

Publication Sentence Publish Date Extraction Date Species
Meng-Ling Chen, Chih-Chun Lin, Liana S Rosenthal, Puneet Opal, Sheng-Han Ku. Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias: Implications for therapy development. Journal of the neurological sciences. vol 424. 2021-05-14. PMID:33836316. spinocerebellar ataxias (scas) are a group of dominantly-inherited cerebellar ataxias, among which cag expansion-related scas are most common. 2021-05-14 2023-08-13 Not clear
Tomoyuki Ijiro, Atsushi Yaguchi, Ayaka Yokoyama, Yoshikazu Abe, Sumiyoshi Kiguch. Ameliorating effect of rovatirelin on the ataxia in rolling mouse Nagoya. European journal of pharmacology. vol 882. 2021-05-13. PMID:32534077. these results suggest that rovatirelin activates the cerebellum and other parts of the central nervous system to improve motor function in spinocerebellar ataxia (sca) model animals, and its action is more potent than that of taltirelin. 2021-05-13 2023-08-13 mouse
Frederike Cosima Oertel, Oliver Zeitz, Maria Rönnefarth, Charlotte Bereuter, Seyedamirhosein Motamedi, Hanna G Zimmermann, Joseph Kuchling, Anne Sophie Grosch, Sarah Doss, Andrew Browne, Friedemann Paul, Tanja Schmitz-Hübsch, Alexander U Brand. Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1. Movement disorders clinical practice. vol 7. issue 5. 2021-04-29. PMID:32626794. spinocerebellar ataxia type 1 (sca-atxn1) is an inherited progressive ataxia disorder characterized by an adult-onset cerebellar syndrome combined with nonataxia signs. 2021-04-29 2023-08-13 Not clear
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Dur. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genetics in medicine : official journal of the American College of Medical Genetics. vol 22. issue 11. 2021-04-28. PMID:32713943. pathogenic variants in stub1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (sca48). 2021-04-28 2023-08-13 Not clear
Maria do Carmo Costa, Maria Radzwion, Hayley S McLoughlin, Naila S Ashraf, Svetlana Fischer, Vikram G Shakkottai, Patrícia Maciel, Henry L Paulson, Gülin Ö. In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3. Movement disorders : official journal of the Movement Disorder Society. vol 35. issue 10. 2021-04-27. PMID:32621646. in vivo molecular signatures of cerebellar pathology in spinocerebellar ataxia type 3. 2021-04-27 2023-08-13 Not clear
Luis Velázquez-Pérez, Roberto Rodriguez-Labrada, Yasmani González-Garcés, Eduardo Arrufat-Pie, Reidenis Torres-Vega, Jacqueline Medrano-Montero, Beatriz Ramirez-Bautista, Yaimeé Vazquez-Mojena, Georg Auburger, Fay Horak, Ulf Ziemann, Christopher M Gome. Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits. Movement disorders : official journal of the Movement Disorder Society. vol 36. issue 2. 2021-04-27. PMID:33107647. the search for valid preclinical biomarkers of cerebellar dysfunction is a key research goal for the upcoming era of early interventional approaches in spinocerebellar ataxias. 2021-04-27 2023-08-13 human
David D Bushart, Haoran Huang, Luke J Man, Logan M Morrison, Vikram G Shakkotta. A Chlorzoxazone-Baclofen Combination Improves Cerebellar Impairment in Spinocerebellar Ataxia Type 1. Movement disorders : official journal of the Movement Disorder Society. vol 36. issue 3. 2021-04-27. PMID:33151010. a chlorzoxazone-baclofen combination improves cerebellar impairment in spinocerebellar ataxia type 1. 2021-04-27 2023-08-13 human
David D Bushart, Haoran Huang, Luke J Man, Logan M Morrison, Vikram G Shakkotta. A Chlorzoxazone-Baclofen Combination Improves Cerebellar Impairment in Spinocerebellar Ataxia Type 1. Movement disorders : official journal of the Movement Disorder Society. vol 36. issue 3. 2021-04-27. PMID:33151010. a combination of central muscle relaxants, chlorzoxazone and baclofen (chlorzoxazone-baclofen), has been proposed for treatment of cerebellar symptoms in human spinocerebellar ataxia. 2021-04-27 2023-08-13 human
Ji-Hoon Lee, Seung W Ryu, Nicolette A Ender, Tanya T Paul. Poly-ADP-ribosylation drives loss of protein homeostasis in ATM and Mre11 deficiency. Molecular cell. vol 81. issue 7. 2021-04-14. PMID:33571423. lastly, analysis of a-t patient cerebellum samples shows widespread protein aggregation as well as loss of proteins known to be critical in human spinocerebellar ataxias that is not observed in neocortex tissues. 2021-04-14 2023-08-13 human
Katharine J Liang, Erik S Carlso. Resistance, vulnerability and resilience: A review of the cognitive cerebellum in aging and neurodegenerative diseases. Neurobiology of learning and memory. vol 170. 2021-04-12. PMID:30630042. in neurodegenerative or neurological disorders associated with cerebellar pathology, such as spinocerebellar ataxia, cerebellar cortical atrophy, and essential tremor, rates of cognitive dysfunction, dementia and neuropsychiatric symptoms increase. 2021-04-12 2023-08-13 Not clear
Min-Kyeong Kim, Kyunghoon Lee, Hee-Yeon Woo, Hyosoon Park, Suho Ro, Won Tae Yoon, Min-Jung Kwo. Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing. Annals of laboratory medicine. vol 40. issue 6. 2021-04-08. PMID:32539308. late diagnosis of wilson disease, initially presenting as cerebellar atrophy mimicking spinocerebellar ataxia, by multigene panel testing. 2021-04-08 2023-08-13 Not clear
M Lieto, V Riso, D Galatolo, G De Michele, S Rossi, M Barghigiani, S Cocozza, G Pontillo, R Trovato, F Saccà, E Salvatore, A Tessa, A Filla, F M Santorelli, G De Michele, G Silvestr. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. European journal of neurology. vol 27. issue 3. 2021-03-24. PMID:31571321. heterozygous mutations in the stub1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (sca) associated with cerebellar cognitive-affective syndrome (ccas), named sca48. 2021-03-24 2023-08-13 Not clear
Sabina Barresi, Maria Lisa Dentici, Francesca Manzoni, Emanuele Bellacchio, Emanuele Agolini, Simone Pizzi, Andrea Ciolfi, Mark Tarnopolsky, Lauren Brady, Giacomo Garone, Antonio Novelli, Davide Mei, Renzo Guerrini, Alessandro Capuano, Chiara Pantaleoni, Marco Tartagli. Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations. Pediatric neurology. vol 104. 2021-02-08. PMID:31836334. although a recurrent heterozygous mutation (p.arg1715his) in cacna1g is known to cause adult-onset spinocerebellar ataxia 42 (sca42*616795), gain-of-function mutations in this gene have recently been identified by whole exome sequencing (wes) in four children with cerebellar atrophy and ataxia, psychomotor delay, and other variable features. 2021-02-08 2023-08-13 Not clear
Alexander S Brown, Pratap Meera, Gabe Quinones, Jessica Magri, Thomas S Otis, Stefan M Pulst, Anthony E Or. Receptor protein tyrosine phosphatases control Purkinje neuron firing. Cell cycle (Georgetown, Tex.). vol 19. issue 2. 2021-01-29. PMID:31876231. spinocerebellar ataxias (sca) are a genetically heterogeneous family of cerebellar neurodegenerative diseases characterized by abnormal firing of purkinje neurons and degeneration. 2021-01-29 2023-08-13 Not clear
Yan Miao, Kunyu Wang, Jinming Han, Zhiwei Wang, Yang Bian, Qifeng Guo, Chenjing Sun, Qingqing Wang, Dandan Song, Xiaokun Qi, Feng Qi. Differential value of external anal- and urethral-sphincter electromyography in multiple system atrophy cerebellar type and spinocerebellar ataxias. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 80. 2021-01-20. PMID:33099340. differential value of external anal- and urethral-sphincter electromyography in multiple system atrophy cerebellar type and spinocerebellar ataxias. 2021-01-20 2023-08-13 Not clear
Yan Miao, Kunyu Wang, Jinming Han, Zhiwei Wang, Yang Bian, Qifeng Guo, Chenjing Sun, Qingqing Wang, Dandan Song, Xiaokun Qi, Feng Qi. Differential value of external anal- and urethral-sphincter electromyography in multiple system atrophy cerebellar type and spinocerebellar ataxias. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 80. 2021-01-20. PMID:33099340. clinically differentiating multiple system atrophy cerebellar type (msa-c) and spinocerebellar ataxias (scas) is challenging, especially at early disease stages, because of their similarities in clinical manifestation and imaging results. 2021-01-20 2023-08-13 Not clear
Arianna Manini, Tommaso Bocci, Alice Migazzi, Edoardo Monfrini, Dario Ronchi, Giulia Franco, Anna De Rosa, Ferdinando Sartucci, Alberto Priori, Stefania Corti, Giacomo Pietro Comi, Nereo Bresolin, Manuela Basso, Alessio Di Fonz. A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation. BMC neurology. vol 20. issue 1. 2021-01-18. PMID:33160304. mutations in tgm6 gene, encoding for transglutaminase 6 (tg6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (sca35), a rare autosomal dominant disease marked by cerebellar degeneration and characterized by postural instability, incoordination of gait, features of cerebellar dysfunction and pyramidal signs. 2021-01-18 2023-08-13 Not clear
Kosuke Matsuzono, Keiko Imamura, Nagahisa Murakami, Kayoko Tsukita, Takuya Yamamoto, Yuishin Izumi, Ryuji Kaji, Yasuyuki Ohta, Toru Yamashita, Koji Abe, Haruhisa Inou. Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs. Molecular therapy. Nucleic acids. vol 8. 2021-01-09. PMID:28918022. spinocerebellar ataxia type 36 is a late-onset, slowly progressive cerebellar syndrome with motor neuron degeneration that is caused by expansions of a hexanucleotide repeat (ggcctg) in the noncoding region of nop56 gene, with a histopathological feature of rna foci formation in postmortem tissues. 2021-01-09 2023-08-13 Not clear
Anna Nigri, Lidia Sarro, Alessia Mongelli, Chiara Pinardi, Luca Porcu, Anna Castaldo, Stefania Ferraro, Marina Grisoli, Maria Grazia Bruzzone, Cinzia Gellera, Franco Taroni, Caterina Mariotti, Lorenzo Nanett. Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages. Frontiers in neurology. vol 11. 2021-01-02. PMID:33384659. progression of cerebellar atrophy in spinocerebellar ataxia type 2 gene carriers: a longitudinal mri study in preclinical and early disease stages. 2021-01-02 2023-08-13 Not clear
Chi-Wen Jao, Bing-Wen Soong, Tzu-Yun Wang, Hsiu-Mei Wu, Chia-Feng Lu, Po-Shan Wang, Yu-Te W. Intra- and Inter-Modular Connectivity Alterations in the Brain Structural Network of Spinocerebellar Ataxia Type 3. Entropy (Basel, Switzerland). vol 21. issue 3. 2020-12-07. PMID:33267031. in addition to cerebellar degeneration symptoms, patients with spinocerebellar ataxia type 3 (sca3) exhibit extensive involvements with damage in the prefrontal cortex. 2020-12-07 2023-08-13 human