All Relations between Spinocerebellar Ataxias and cerebellum

Publication Sentence Publish Date Extraction Date Species
Xiaoyang Liu, Linlin Wang, Jiajun Chen, Chunyang Kang, Jia L. Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review. Medicine. vol 100. issue 50. 2021-12-17. PMID:34918652. spinocerebellar ataxia (sca) is a common neurogenetic disease that mainly manifests as ataxia of posture, gait, and limbs, cerebellar dysarthria, and cerebellar and supranuclear eye movement disorders. 2021-12-17 2023-08-13 Not clear
Laxman K Senapati, Sudipta Patnaik, Priyadarsini Samanta, Sambit P Kar, Santosh Dash, Jayanti Mishr. Comparison of Cardiac Autonomic Function in Type 2 Spinocerebellar Ataxia With Normal Control Using Heart Rate Variability as a Tool: A Cross-Sectional Study in Eastern India. Cureus. vol 13. issue 11. 2021-12-08. PMID:34873557. spinocerebellar ataxia (sca) is a disease that refers to a category of inherited ataxias that are characterized by degenerative alterations in the cerebellum, pons, and spinocerebellar tracts. 2021-12-08 2023-08-13 Not clear
Timothy R Koscik, Lauren Sloat, Ellen van der Plas, James M Joers, Dinesh K Deelchand, Christophe Lenglet, Gülin Öz, Peggy C Nopoulo. Brainstem and striatal volume changes are detectable in under 1 year and predict motor decline in spinocerebellar ataxia type 1. Brain communications. vol 2. issue 2. 2021-12-07. PMID:33409488. in a previous report on a longitudinal study of patients with spinocerebellar ataxia type 1, we evaluated the volume and magnetic resonance spectroscopy measures of the cerebellum and pons, showing pontine volume and pontine 2021-12-07 2023-08-13 Not clear
Xianli Bian, Shang Wang, Suqin Jin, Shunliang Xu, Hong Zhang, Dewei Wang, Wei Shang, Ping Wan. Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 42. issue 12. 2021-12-06. PMID:33797620. spinocerebellar ataxia type 5 (sca5) is a rare autosomal-dominant ataxia with pure cerebellum involvement. 2021-12-06 2023-08-13 Not clear
François G C Blot, Wilhelmina H J J Krijnen, Sandra Den Hoedt, Catarina Osório, Joshua J White, Monique T Mulder, Martijn Schonewill. Sphingolipid metabolism governs Purkinje cell patterned degeneration in Proceedings of the National Academy of Sciences of the United States of America. vol 118. issue 36. 2021-12-02. PMID:34479994. next, we investigated a model for spinocerebellar ataxia type 1 (sca1) driven by the transgenic expression of the expanded ataxin 1 protein with 82 glutamine (82q), exhibiting severe pc degeneration in the anterior cerebellum while the flocculonodular region is preserved. 2021-12-02 2023-08-13 Not clear
Yalan Zhang, Imran H Quraishi, Heather McClure, Luis A Williams, YungChih Cheng, Siddharth Kale, Graham T Dempsey, Sudhir Agrawal, David J Gerber, Owen B McManus, Leonard K Kaczmare. Suppression of Kv3.3 channels by antisense oligonucleotides reverses biochemical effects and motor impairment in spinocerebellar ataxia type 13 mice. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 35. issue 12. 2021-12-02. PMID:34820911. mutations in kcnc3, the gene that encodes the kv3.3 voltage dependent potassium channel, cause spinocerebellar ataxia type 13 (sca13), a disease associated with disrupted motor behaviors, progressive cerebellar degeneration, and abnormal auditory processing. 2021-12-02 2023-08-13 mouse
Pawel M Switonski, Joe R Delaney, Luke C Bartelt, Chenchen Niu, Maria Ramos-Zapatero, Nathanael J Spann, Akshay Alaghatta, Toby Chen, Emily N Griffin, Jaidev Bapat, Bryce L Sopher, Albert R La Spad. Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7. Cell reports. vol 37. issue 9. 2021-12-01. PMID:34852229. altered h3 histone acetylation impairs high-fidelity dna repair to promote cerebellar degeneration in spinocerebellar ataxia type 7. 2021-12-01 2023-08-13 mouse
Pawel M Switonski, Joe R Delaney, Luke C Bartelt, Chenchen Niu, Maria Ramos-Zapatero, Nathanael J Spann, Akshay Alaghatta, Toby Chen, Emily N Griffin, Jaidev Bapat, Bryce L Sopher, Albert R La Spad. Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7. Cell reports. vol 37. issue 9. 2021-12-01. PMID:34852229. spinocerebellar ataxia type 7 (sca7) is a cag-polyglutamine-repeat disorder characterized by cerebellar and retinal degeneration. 2021-12-01 2023-08-13 mouse
Haoyang Huang, Nicholas Toker, Eliza Burr, Jeff Okoro, Maia Moog, Casey Hearing, Sarita Lagalwa. Intercellular Propagation and Aggregate Seeding of Mutant Ataxin-1. Journal of molecular neuroscience : MN. 2021-11-26. PMID:34826062. propagation of oligomeric-structured polyglutamine-expanded ataxin-1 (atxn1[154q]) has been reported in the cerebellum of a spinocerebellar ataxia type 1 (sca1) knock-in mouse to correlate with disease propagation. 2021-11-26 2023-08-13 mouse
Anna Niewiadomska-Cimicka, Frédéric Doussau, Jean-Baptiste Perot, Michel J Roux, Celine Keime, Antoine Hache, Françoise Piguet, Ariana Novati, Chantal Weber, Binnaz Yalcin, Hamid Meziane, Marie-France Champy, Erwan Grandgirard, Alice Karam, Nadia Messaddeq, Aurélie Eisenmann, Emmanuel Brouillet, Hoa Huu Phuc Nguyen, Julien Flament, Philippe Isope, Yvon Trottie. SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 41. issue 22. 2021-11-19. PMID:33888607. spinocerebellar ataxia type 7 (sca7) is an inherited neurodegenerative disease mainly characterized by motor incoordination because of progressive cerebellar degeneration. 2021-11-19 2023-08-13 mouse
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. therapeutic use of cerebellar intermittent theta burst stimulation (itbs) in a sardinian family affected by spinocerebellar ataxia 38 (sca 38). 2021-11-11 2023-08-13 Not clear
Pamela McMillan, Jeanna Wheeler, Rachel E Gatlin, Laura Taylor, Tim Strovas, Misa Baum, Thomas D Bird, Caitlin Latimer, C Dirk Keene, Brian C Kraemer, Nicole F Liachk. Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice. Acta neuropathologica communications. vol 8. issue 1. 2021-11-09. PMID:33228809. these ittbk1 tg mice exhibit phenotypes reminiscent of spinocerebellar ataxia, and represent a new model of cerebellar neurodegeneration. 2021-11-09 2023-08-13 mouse
Xiaodi Li, Xiao Lv, Churong Liu, Jinlong Ye, Yan Xu, Gengmao Ma, Zhong Li, Yuzhou Wan. 3-Hz Postural Tremor in MSA-C and SCA: Revisiting an Old but Underestimated Cerebellar Sign by Posturography. Cerebellum (London, England). vol 20. issue 2. 2021-11-05. PMID:33164129. a static posturography examination was administered to 37 persons with spinocerebellar ataxia, 58 others with the cerebellar type of multiple system atrophy, and 53 healthy controls. 2021-11-05 2023-08-13 human
Fan Wu, Xu Wang, Xiaohan Li, Huidi Teng, Tao Tian, Jing Ba. Spinocerebellar ataxia type 23 (SCA23): a review. Journal of neurology. vol 268. issue 12. 2021-11-04. PMID:33175256. spinocerebellar ataxias (scas), formerly known as autosomal dominant cerebellar ataxias (adcas), are a group of hereditary heterogeneous neurodegenerative diseases. 2021-11-04 2023-08-13 Not clear
Raghavendra Y Nagaraja, David M Sherry, Jennifer L Fessler, Megan A Stiles, Feng Li, Karanpreet Multani, Albert Orock, Mohiuddin Ahmad, Richard S Brush, Robert E Anderson, Martin-Paul Agbaga, Ferenc Deá. W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34. Molecular neurobiology. vol 58. issue 10. 2021-10-27. PMID:34227061. spinocerebellar ataxia (sca) is a neurodegenerative disorder characterized by ataxia and cerebellar atrophy. 2021-10-27 2023-08-13 rat
Won-Seok Lee, Laura Lavery, Maxime W C Rousseaux, Eric B Rutledge, Youjin Jang, Ying-Wooi Wan, Sih-Rong Wu, Wonho Kim, Ismael Al-Ramahi, Smruti Rath, Carolyn J Adamski, Vitaliy V Bondar, Ambika Tewari, Shirin Soleimani, Samantha Mota, Hari K Yalamanchili, Harry T Orr, Zhandong Liu, Juan Botas, Huda Y Zoghb. Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. The EMBO journal. vol 40. issue 7. 2021-10-22. PMID:33709453. in spinocerebellar ataxia type 1 (sca1), accumulation of polyglutamine-expanded ataxin-1 (atxn1) causes selective degeneration of cerebellar and brainstem neurons. 2021-10-22 2023-08-13 mouse
John H Pula, Vernon L Towle, Victoria M Staszak, Dingcai Cao, Jacqueline T Bernard, Christopher M Gome. Retinal Nerve Fibre Layer and Macular Thinning in Spinocerebellar Ataxia and Cerebellar Multisystem Atrophy. Neuro-ophthalmology (Aeolus Press). vol 35. issue 3. 2021-10-20. PMID:21866205. retinal nerve fibre layer and macular thinning in spinocerebellar ataxia and cerebellar multisystem atrophy. 2021-10-20 2023-08-12 human
Yoko Takahashi, Masaya Kubota, Rika Kosaki, Kenjiro Kosaki, Akira Ishigur. A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. Brain & development. vol 43. issue 3. 2021-10-04. PMID:33272776. spinocerebellar ataxia, autosomal recessive 2 (scar2) [mim:213200] is a rare autosomal recessive disease of spinocerebellar ataxia associated with degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. 2021-10-04 2023-08-13 Not clear
Roderick P P W M Maas, Bart P C van de Warrenburg, Dennis J L G Schutte. Inverse associations between cerebellar inhibition and motor impairment in spinocerebellar ataxia type 3. Brain stimulation. vol 14. issue 2. 2021-10-04. PMID:33535082. inverse associations between cerebellar inhibition and motor impairment in spinocerebellar ataxia type 3. 2021-10-04 2023-08-13 Not clear
Polina A Egorova, Aleksandra V Gavrilova, Ilya B Bezprozvann. In vivo analysis of the spontaneous firing of cerebellar Purkinje cells in awake transgenic mice that model spinocerebellar ataxia type 2. Cell calcium. vol 93. 2021-09-24. PMID:33248384. cerebellar purkinje cells (pcs) fire spontaneously in a tonic mode, although the precision of this pacemaking activity is disturbed in many abnormal conditions involving cerebellar atrophy, such as many spinocerebellar ataxias (scas). 2021-09-24 2023-08-13 mouse