| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Cigdem Ulasoglu-Yildiz, Hakan Gurvi. Implicit contextual learning in spinocerebellar ataxia. Neuropsychology. vol 34. issue 5. 2020-11-24. PMID:31789569. |
spinocerebellar ataxias (scas) are a family of hereditary degeneration, which is associated with progressive atrophy of the cerebellum. |
2020-11-24 |
2023-08-13 |
Not clear |
| Zohar Elyoseph, Matti Mintz, Eli Vakil, Roy Zaltzman, Carlos R Gordo. Selective Procedural Memory Impairment but Preserved Declarative Memory in Spinocerebellar Ataxia Type 3. Cerebellum (London, England). vol 19. issue 2. 2020-11-23. PMID:31912433. |
spinocerebellar ataxia type 3 (sca3), also known as machado-joseph disease, is an autosomal dominant neurodegenerative disorder that affects mainly the cerebellum and less other brain areas. |
2020-11-23 |
2023-08-13 |
Not clear |
| Filip Tichanek, Martina Salomova, Jan Jedlicka, Jitka Kuncova, Pavel Pitule, Tereza Macanova, Zuzana Petrankova, Zdenek Tuma, Jan Cendeli. Hippocampal mitochondrial dysfunction and psychiatric-relevant behavioral deficits in spinocerebellar ataxia 1 mouse model. Scientific reports. vol 10. issue 1. 2020-11-23. PMID:32214165. |
spinocerebellar ataxia 1 (sca1) is a devastating neurodegenerative disease associated with cerebellar degeneration and motor deficits. |
2020-11-23 |
2023-08-13 |
mouse |
| Mario Mascalchi, Alessandra Vell. Neuroimaging Biomarkers in SCA2 Gene Carriers. International journal of molecular sciences. vol 21. issue 3. 2020-11-17. PMID:32033120. |
proton mr spectroscopy reveals, in the pons and cerebellum of sca2 gene carriers,a more pronounced degree of abnormal neurochemical profile compared to other spinocerebellar ataxias with decreased naa/cr and cho/cr, increased mi/cr ratios, and decreased naa and increased mi concentrations. |
2020-11-17 |
2023-08-13 |
human |
| Alessandro Didonna, Ester Canto Puig, Qin Ma, Atsuko Matsunaga, Brenda Ho, Stacy J Caillier, Hengameh Shams, Nicholas Lee, Stephen L Hauser, Qiumin Tan, Scott S Zamvil, Jorge R Oksenber. Ataxin-1 regulates B cell function and the severity of autoimmune experimental encephalomyelitis. Proceedings of the National Academy of Sciences of the United States of America. vol 117. issue 38. 2020-11-17. PMID:32878998. |
mutant forms of ataxin-1 containing expanded glutamine stretches cause the movement disorder spinocerebellar ataxia type 1 (sca1) through a toxic gain-of-function mechanism in the cerebellum. |
2020-11-17 |
2023-08-13 |
Not clear |
| Minkyeong Kim, Jong Hyeon Ahn, Yoonsu Cho, Ji Sun Kim, Jinyoung Youn, Jin Whan Ch. Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias. Scientific reports. vol 9. issue 1. 2020-11-03. PMID:31758059. |
differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias. |
2020-11-03 |
2023-08-13 |
Not clear |
| Minkyeong Kim, Jong Hyeon Ahn, Yoonsu Cho, Ji Sun Kim, Jinyoung Youn, Jin Whan Ch. Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias. Scientific reports. vol 9. issue 1. 2020-11-03. PMID:31758059. |
clinically differentiating multiple system atrophy cerebellar (msa-c) phenotype and spinocerebellar ataxias (scas) is challenging especially in the early stage. |
2020-11-03 |
2023-08-13 |
Not clear |
| Nassier Harfouch, Mark Finkelstein, Swati Sathe, Mark Raden, Arnold I Brenne. The Use of FDG PET Parametric Imaging in the Diagnosis of Olivopontocerebellar Atrophy. Clinical nuclear medicine. vol 45. issue 9. 2020-10-29. PMID:32657870. |
we present a case involving a 66-year-old man with adult-onset progressing cerebellar signs reflective of a cerebellar syndrome with no significant family history and unremarkable genetic testing for spinocerebellar ataxia. |
2020-10-29 |
2023-08-13 |
Not clear |