All Relations between Spinocerebellar Ataxias and cerebellum

Publication Sentence Publish Date Extraction Date Species
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
Etsuko Shimobayashi, Josef P Kapfhamme. Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14. Molecular brain. vol 10. issue 1. 2018-05-07. PMID:28738819. spinocerebellar ataxia (sca) is an autosomal dominant neurodegenerative disorder characterized by slowly progressive cerebellar dysfunction. 2018-05-07 2023-08-13 Not clear
Wenhui Qu, Andrea Johnson, Joo Hyun Kim, Abigail Lukowicz, Daniel Svedberg, Marija Cvetanovi. Inhibition of colony-stimulating factor 1 receptor early in disease ameliorates motor deficits in SCA1 mice. Journal of neuroinflammation. vol 14. issue 1. 2018-03-26. PMID:28545543. polyglutamine (polyq) expansion in the protein ataxin-1 (atxn1) causes spinocerebellar ataxia type 1 (sca1), a fatal dominantly inherited neurodegenerative disease characterized by motor deficits, cerebellar neurodegeneration, and gliosis. 2018-03-26 2023-08-13 mouse
Chiharu Isono, Makito Hirano, Hikaru Sakamoto, Shuichi Ueno, Susumu Kusunoki, Yusaku Nakamur. Progression of Dysphagia in Spinocerebellar Ataxia Type 6. Dysphagia. vol 32. issue 3. 2018-03-12. PMID:28042641. spinocerebellar ataxia type 6 (sca6), an autosomal dominant triplet repeat disease, predominantly affects the cerebellum with a late onset and generally good prognosis. 2018-03-12 2023-08-13 Not clear
Luis Velázquez-Pérez, Roberto Rodríguez-Labrada, José Miguel Laffita-Mes. Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges. Movement disorders : official journal of the Movement Disorder Society. vol 32. issue 5. 2018-02-06. PMID:28256108. research during the past 3 decades in spinocerebellar ataxia type 2 has revealed a large body of evidence suggesting that many disease features precede the manifest cerebellar syndrome, which delineates the prodromal stage of this disorder. 2018-02-06 2023-08-13 Not clear
Lulin Choubtum, Pirada Witoonpanich, Kongkiat Kulkantrakorn, Suchat Hanchaiphiboolkul, Sunsanee Pongpakdee, Somsak Tiamkao, Teeratorn Pulke. Trinucleotide repeat expansion of TATA-binding protein gene associated with Parkinson's disease: A Thai multicenter study. Parkinsonism & related disorders. vol 28. 2018-02-05. PMID:27172828. spinocerebellar ataxia type 17 (sca17) is an inherited cerebellar degeneration associated with trinucleotide repeat expansions in the tata-binding protein gene (tbp). 2018-02-05 2023-08-13 Not clear
Austin Ferro, Emily Carbone, Evan Marzouk, Asher Siegel, Donna Nguyen, Kailen Polley, Jessilyn Hartman, Kimberley Frederick, Stephen Ives, Sarita Lagalwa. Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function. Journal of visualized experiments : JoVE. issue 119. 2018-01-29. PMID:28190022. mitochondrial dysfunction plays a significant role in the aging process and in neurodegenerative diseases including several hereditary spinocerebellar ataxias and other movement disorders marked by progressive degeneration of the cerebellum. 2018-01-29 2023-08-13 mouse
U Rüb, K Seidel, H Heinsen, J P Vonsattel, W F den Dunnen, H W Kor. Huntington's disease (HD): the neuropathology of a multisystem neurodegenerative disorder of the human brain. Brain pathology (Zurich, Switzerland). vol 26. issue 6. 2018-01-17. PMID:27529157. the multisystem character of the neuropathology of hd is emphasized by a brain distribution pattern of neurodegeneration (i) which apart from the striatum includes the cerebral neo-and allocortex, thalamus, pallidum, brainstem and cerebellum, and which (ii) therefore, shares more similarities with polyglutamine spinocerebellar ataxias than previously thought. 2018-01-17 2023-08-13 human
M I Falcon, C M Gomez, E E Chen, A Shereen, A Solodki. Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6. Cerebral cortex (New York, N.Y. : 1991). vol 26. issue 7. 2018-01-15. PMID:26209844. early cerebellar network shifting in spinocerebellar ataxia type 6. 2018-01-15 2023-08-13 Not clear
Austin Ferro, Emily Carbone, Jenny Zhang, Evan Marzouk, Monica Villegas, Asher Siegel, Donna Nguyen, Thomas Possidente, Jessilyn Hartman, Kailen Polley, Melissa A Ingram, Georgia Berry, Thomas H Reynolds, Bernard Possidente, Kimberley Frederick, Stephen Ives, Sarita Lagalwa. Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model. PloS one. vol 12. issue 12. 2017-12-29. PMID:29211771. short-term succinic acid treatment mitigates cerebellar mitochondrial oxphos dysfunction, neurodegeneration and ataxia in a purkinje-specific spinocerebellar ataxia type 1 (sca1) mouse model. 2017-12-29 2023-08-13 mouse
Austin Ferro, Emily Carbone, Jenny Zhang, Evan Marzouk, Monica Villegas, Asher Siegel, Donna Nguyen, Thomas Possidente, Jessilyn Hartman, Kailen Polley, Melissa A Ingram, Georgia Berry, Thomas H Reynolds, Bernard Possidente, Kimberley Frederick, Stephen Ives, Sarita Lagalwa. Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model. PloS one. vol 12. issue 12. 2017-12-29. PMID:29211771. in this study, we investigate the role of mitochondrial oxidative phosphorylation (oxphos) deficits in cerebellar tissue of a purkinje cell-driven spinocerebellar ataxia type 1 (sca1) mouse. 2017-12-29 2023-08-13 mouse
Yoshihito Ishida, Hideshi Kawakami, Hiroyuki Kitajima, Ayaka Nishiyama, Yoshiki Sasai, Haruhisa Inoue, Keiko Mugurum. Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs. Cell reports. vol 17. issue 6. 2017-11-20. PMID:27806289. spinocerebellar ataxia type 6 (sca6) is a dominantly inherited neurodegenerative disease characterized by loss of purkinje cells in the cerebellum. 2017-11-20 2023-08-13 Not clear
Shang-Ran Huang, Yu-Te Wu, Chii-Wen Jao, Bing-Wen Soong, Jiing-Feng Lirng, Hsiu-Mei Wu, Po-Shan Wan. CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. NeuroImage. Clinical. vol 13. 2017-11-17. PMID:27942452. cag repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. 2017-11-17 2023-08-13 Not clear
Shang-Ran Huang, Yu-Te Wu, Chii-Wen Jao, Bing-Wen Soong, Jiing-Feng Lirng, Hsiu-Mei Wu, Po-Shan Wan. CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. NeuroImage. Clinical. vol 13. 2017-11-17. PMID:27942452. this cross-sectional study investigated the correlation between the cag repeat length and the degeneration of cerebellum in spinocerebellar ataxia type 3 (sca3) patients based on neuroimaging approaches. 2017-11-17 2023-08-13 Not clear
G Olivito, M Cercignani, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Bozzali, M Leggi. Neural substrates of motor and cognitive dysfunctions in SCA2 patients: A network based statistics analysis. NeuroImage. Clinical. vol 14. 2017-11-07. PMID:28393013. spinocerebellar ataxia type 2 (sca2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs. 2017-11-07 2023-08-13 Not clear
Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Cleo J L M Smeets, Jelkje J de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana B Bampi, Cleo van Diemen, Ewout Brunt, Elly Ippel, Berry Kremer, Monique Vlak, Noam Adir, Cisca Wijmenga, Bart P C van de Warrenburg, Lude Franke, Richard J Sinke, Dineke S Verbee. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain : a journal of neurology. vol 140. issue 11. 2017-11-07. PMID:29053796. the autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. 2017-11-07 2023-08-13 Not clear
Carmen Rodríguez-Cueto, Mariluz Hernández-Gálvez, Cecilia J Hillard, Patricia Maciel, Luis García-García, Sara Valdeolivas, Miguel A Pozo, José A Ramos, María Gómez-Ruiz, Javier Fernández-Rui. Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. Neuroscience. vol 339. 2017-10-30. PMID:27717809. dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. 2017-10-30 2023-08-13 mouse
Esther A R Nibbeling, Cathérine C S Delnooz, Tom J de Koning, Richard J Sinke, Hyder A Jinnah, Marina A J Tijssen, Dineke S Verbee. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis. Neuroscience and biobehavioral reviews. vol 75. 2017-10-24. PMID:28143763. the spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atrophy of the cerebellum. 2017-10-24 2023-08-13 Not clear
Tessa van Dijk, Peter Barth, Liesbeth Reneman, Bart Appelhof, Frank Baas, Bwee Tien Poll-Th. A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's. American journal of medical genetics. Part A. vol 173. issue 1. 2017-10-19. PMID:27862915. a de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: expanding the phenotype of itpr1-related spinocerebellar ataxia's. 2017-10-19 2023-08-13 Not clear
Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dah. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. European journal of human genetics : EJHG. vol 25. issue 7. 2017-09-28. PMID:28488678. spinocerebellar ataxias (sca) comprise a heterogeneous group of inherited neurological disorders characterized by a range of symptoms from both cerebellar and extra cerebellar structures. 2017-09-28 2023-08-13 Not clear