All Relations between Spinocerebellar Ataxias and cerebellum

Publication Sentence Publish Date Extraction Date Species
Jiaqi Wang, Atsuhiko Sugiyama, Hajime Yokota, Shigeki Hirano, Graham Cooper, Hiroki Mukai, Kenji Ohira, Kyosuke Koide, Shoichi Ito, Carsten Finke, Alexander U Brandt, Friedemann Paul, Satoshi Kuwabar. Diagnostic efficacy of the magnetic resonance T1w/T2w ratio for the middle cerebellar peduncle in multiple system atrophy and spinocerebellar ataxia: A preliminary study. PloS one. vol 17. issue 4. 2022-04-15. PMID:35427382. diagnostic efficacy of the magnetic resonance t1w/t2w ratio for the middle cerebellar peduncle in multiple system atrophy and spinocerebellar ataxia: a preliminary study. 2022-04-15 2023-08-13 Not clear
A Umano, K Fang, Z Qu, J B Scaglione, S Altinok, C J Treadway, E T Wick, E Paulakonis, C Karunanayake, S Chou, T M Bardakjian, P Gonzalez-Alegre, R C Page, J C Schisler, N G Brown, D Yan, K M Scaglion. The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP. The Journal of biological chemistry. 2022-04-10. PMID:35398354. the spinocerebellar ataxias (scas) are a class of incurable diseases characterized by degeneration of the cerebellum that results in movement disorder. 2022-04-10 2023-08-13 Not clear
Hiroshi Mitoma, Kazuhiko Yamaguchi, Jerome Honnorat, Mario Mant. The Clinical Concept of LTDpathy: Is Dysregulated LTD Responsible for Prodromal Cerebellar Symptoms? Brain sciences. vol 12. issue 3. 2022-03-25. PMID:35326260. on the other hand, in some types of spinocerebellar ataxia (sca), dysfunction in pf-pc ltd, and impairments of pf-pc ltd-related adaptive behaviors (including vestibulo-ocular reflex (vor) and prism adaptation) appear during the prodromal stage, well before the manifestations of obvious cas and cerebellar atrophy. 2022-03-25 2023-08-13 Not clear
Marc Corral-Juan, Pilar Casquero, Natalia Giraldo-Restrepo, Steve Laurie, Alicia Martinez-Piñeiro, Raidili Cristina Mateo-Montero, Lourdes Ispierto, Dolores Vilas, Eduardo Tolosa, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sánchez, Antoni Matilla-Dueña. New spinocerebellar ataxia subtype caused by Brain communications. vol 4. issue 2. 2022-03-21. PMID:35310830. in this study, we describe a new spinocerebellar ataxia subtype in nine members of a spanish five-generation family from menorca with affected individuals variably presenting with ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination. 2022-03-21 2023-08-13 Not clear
Andreas Deistung, Dominik Jäschke, Rossitza Draganova, Viktor Pfaffenrot, Thomas Hulst, Katharina M Steiner, Andreas Thieme, Ilaria A Giordano, Thomas Klockgether, Sinem Tunc, Alexander Münchau, Martina Minnerop, Sophia L Göricke, Jürgen R Reichenbach, Dagmar Timman. Quantitative susceptibility mapping reveals alterations of dentate nuclei in common types of degenerative cerebellar ataxias. Brain communications. vol 4. issue 1. 2022-03-16. PMID:35291442. seventy-nine patients with spinocerebellar ataxias of types 1, 2, 3 and 6; 15 patients with friedreich's ataxia; 18 patients with multiple system atrophy, cerebellar type and 111 healthy controls were also included. 2022-03-16 2023-08-13 Not clear
Andreas Deistung, Dominik Jäschke, Rossitza Draganova, Viktor Pfaffenrot, Thomas Hulst, Katharina M Steiner, Andreas Thieme, Ilaria A Giordano, Thomas Klockgether, Sinem Tunc, Alexander Münchau, Martina Minnerop, Sophia L Göricke, Jürgen R Reichenbach, Dagmar Timman. Quantitative susceptibility mapping reveals alterations of dentate nuclei in common types of degenerative cerebellar ataxias. Brain communications. vol 4. issue 1. 2022-03-16. PMID:35291442. spinocerebellar ataxia of type 1 and multiple system atrophy, cerebellar type patients showed higher susceptibilities in large parts of the dentate nucleus but unaltered susceptibility masses compared with controls. 2022-03-16 2023-08-13 Not clear
Andreas Deistung, Dominik Jäschke, Rossitza Draganova, Viktor Pfaffenrot, Thomas Hulst, Katharina M Steiner, Andreas Thieme, Ilaria A Giordano, Thomas Klockgether, Sinem Tunc, Alexander Münchau, Martina Minnerop, Sophia L Göricke, Jürgen R Reichenbach, Dagmar Timman. Quantitative susceptibility mapping reveals alterations of dentate nuclei in common types of degenerative cerebellar ataxias. Brain communications. vol 4. issue 1. 2022-03-16. PMID:35291442. the most striking changes in susceptibility were found in spinocerebellar ataxia of type 1, multiple system atrophy, cerebellar type and spinocerebellar ataxia of type 6. 2022-03-16 2023-08-13 Not clear
Andreas Deistung, Dominik Jäschke, Rossitza Draganova, Viktor Pfaffenrot, Thomas Hulst, Katharina M Steiner, Andreas Thieme, Ilaria A Giordano, Thomas Klockgether, Sinem Tunc, Alexander Münchau, Martina Minnerop, Sophia L Göricke, Jürgen R Reichenbach, Dagmar Timman. Quantitative susceptibility mapping reveals alterations of dentate nuclei in common types of degenerative cerebellar ataxias. Brain communications. vol 4. issue 1. 2022-03-16. PMID:35291442. because iron content is known to be high in glial cells but not in neurons of the cerebellar nuclei, the higher susceptibility in spinocerebellar ataxia of type 1 and multiple system atrophy, cerebellar type may be explained by a reduction of neurons (increase in iron concentration) and/or an increase in iron-rich glial cells, e.g. 2022-03-16 2023-08-13 Not clear
Hsin Fen Chien, Marise Bueno Zonta, Janini Chen, Giovana Diaferia, Celiana Figueiredo Viana, Hélio Afonso Ghizoni Teive, José Luiz Pedroso, Orlando Graziani Povoas Barsottin. Rehabilitation in patients with cerebellar ataxias. Arquivos de neuro-psiquiatria. 2022-03-03. PMID:35239817. cerebellar ataxias comprise a heterogeneous group of diseases characterized by motor and non-motor symptoms, which can be acquired, degenerative, or have a genetic cause, such as spinocerebellar ataxias (sca). 2022-03-03 2023-08-13 Not clear
Robin Cabeza-Ruiz, Luis Velázquez-Pérez, Alejandro Linares-Barranco, Roberto Pérez-Rodrígue. Convolutional Neural Networks for Segmenting Cerebellar Fissures from Magnetic Resonance Imaging. Sensors (Basel, Switzerland). vol 22. issue 4. 2022-02-26. PMID:35214268. diseases such as spinocerebellar ataxias tend to cause severe damage to the cerebellum, leading patients to a progressive loss of motor coordination. 2022-02-26 2023-08-13 human
Hanako Aoki, Miwa Higashi, Michi Okita, Noboru Ando, Shigeo Murayama, Kinya Ishikawa, Takanori Yokot. Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA) Cerebellum (London, England). 2022-01-27. PMID:35084690. thymidine kinase 2 and mitochondrial protein cox i in the cerebellum of patients with spinocerebellar ataxia type 31 caused by penta-nucleotide repeats (ttcca) spinocerebellar ataxia type 31 (sca31), an autosomal-dominant neurodegenerative disorder characterized by progressive cerebellar ataxia with purkinje cell degeneration, is caused by a heterozygous 2.5-3.8 kilobase penta-nucleotide repeat of (ttcca) 2022-01-27 2023-08-13 Not clear
Polina A Egorova, Ilya B Bezprozvann. Electrophysiological Studies Support Utility of Positive Modulators of SK Channels for the Treatment of Spinocerebellar Ataxia Type 2. Cerebellum (London, England). 2022-01-03. PMID:34978024. spinocerebellar ataxia type 2 (sca2) is an incurable hereditary disorder accompanied by cerebellar degeneration following ataxic symptoms. 2022-01-03 2023-08-13 mouse
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