| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Elan D Louis, Regina T Martuscello, John T Gionco, Whitney G Hartstone, Jessica B Musacchio, Marisa Portenti, Morgan McCreary, Sheng-Han Kuo, Jean-Paul G Vonsattel, Phyllis L Faus. Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains. Acta neuropathologica. 2023-01-06. PMID:36607423. |
building off our prior study and now doubling the sample size, we conducted comparative analyses in a postmortem series of 320 brains on the severity and patterning of cerebellar cortex degenerative changes in et (n = 100), other neurodegenerative disorders of the cerebellum [spinocerebellar ataxias (scas, n = 47, including 13 sca3 and 34 sca1, 2, 6, 7, 8, 14); friedreich's ataxia (fa, n = 13); multiple system atrophy (msa), n = 29], and other disorders that may involve the cerebellum [parkinson's disease (pd), n = 62; dystonia, n = 19] versus controls (n = 50). |
2023-01-06 |
2023-08-14 |
Not clear |
| Jacob Saucier, Mohammad Al-Qadi, Mouna Ben Amor, Kinya Ishikawa, Ludivine Chamard-Witkowsk. Spinocerebellar ataxia type 31: A clinical and radiological literature review. Journal of the neurological sciences. vol 444. 2022-12-23. PMID:36563608. |
spinocerebellar ataxia type 31 (sca31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (adca type 3). |
2022-12-23 |
2023-08-14 |
Not clear |
| Anna Niewiadomska-Cimicka, Antoine Hache, Stéphanie Le Gras, Céline Keime, Tao Ye, Aurelie Eisenmann, Imen Harichane, Michel J Roux, Nadia Messaddeq, Emmanuelle Clérin, Thierry Léveillard, Yvon Trottie. Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy. Journal of biomedical science. vol 29. issue 1. 2022-12-20. PMID:36539812. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disorder that primarily affects the cerebellum and retina. |
2022-12-20 |
2023-08-14 |
mouse |
| Rebekah Koppenol, André Conceição, Inês T Afonso, Ricardo Afonso-Reis, Rafael G Costa, Sandra Tomé, Diogo Teixeira, Joana Pinto da Silva, José-Miguel Côdesso, David V C Brito, Liliana Mendonça, Adriana Marcelo, Luís Pereira de Almeida, Carlos A Matos, Clévio Nóbreg. The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits. Brain : a journal of neurology. 2022-12-13. PMID:36511898. |
among polyq diseases, spinocerebellar ataxias (scas) share many common aspects, including the fact that they involve the functional compromise of the cerebellum, resulting in the hallmark ataxic signs. |
2022-12-13 |
2023-08-14 |
mouse |
| Audrey Riquet, Pierre Cleuziou, Valentine Floret, Francois Quesque, Sabine Defoort, Thomas Smo. Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G. Pediatric neurology. vol 139. 2022-12-12. PMID:36508879. |
to date, cacna1g mutations have been reported in autosomal dominant spinocerebellar ataxia designated sca42 and in early encephalopathies with cerebellar atrophy but never in periodic childhood manifestations of ptu type. |
2022-12-12 |
2023-08-14 |
Not clear |
| Ella Borgenheimer, Katherine Hamel, Carrie Sheeler, Francisco Labrada Moncada, Kaelin Sbrocco, Ying Zhang, Marija Cvetanovi. Single nuclei RNA sequencing investigation of the Purkinje cell and glial changes in the cerebellum of transgenic Spinocerebellar ataxia type 1 mice. Frontiers in cellular neuroscience. vol 16. 2022-12-02. PMID:36457352. |
single nuclei rna sequencing investigation of the purkinje cell and glial changes in the cerebellum of transgenic spinocerebellar ataxia type 1 mice. |
2022-12-02 |
2023-08-14 |
mouse |
| Ella Borgenheimer, Katherine Hamel, Carrie Sheeler, Francisco Labrada Moncada, Kaelin Sbrocco, Ying Zhang, Marija Cvetanovi. Single nuclei RNA sequencing investigation of the Purkinje cell and glial changes in the cerebellum of transgenic Spinocerebellar ataxia type 1 mice. Frontiers in cellular neuroscience. vol 16. 2022-12-02. PMID:36457352. |
spinocerebellar ataxia type 1 (sca1) is a progressive neurodegenerative disease characterized by a severe degeneration of cerebellar purkinje cells (pcs) and cerebellar gliosis. |
2022-12-02 |
2023-08-14 |
mouse |
| Robin Cabeza-Ruiz, Luis Velázquez-Pérez, Roberto Pérez-Rodríguez, Kathrin Reet. ConvNets for automatic detection of polyglutamine SCAs from brain MRIs: state of the art applications. Medical & biological engineering & computing. 2022-11-17. PMID:36385616. |
polyglutamine spinocerebellar ataxias (polyq scas) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by loss of balance and motor coordination due to dysfunction of the cerebellum and its connections. |
2022-11-17 |
2023-08-14 |
Not clear |
| Catarina Osório, Joshua J White, Heiling Lu, Gerrit C Beekhof, Francesca Romana Fiocchi, Charlotte A Andriessen, Stephanie Dijkhuizen, Laura Post, Martijn Schonewill. Pre-ataxic loss of intrinsic plasticity and motor learning in a mouse model of SCA1. Brain : a journal of neurology. 2022-11-10. PMID:36352508. |
spinocerebellar ataxias are neurodegenerative diseases the hallmark symptom of which is the development of ataxia due to cerebellar dysfunction. |
2022-11-10 |
2023-08-14 |
mouse |
| Catarina Osório, Joshua J White, Heiling Lu, Gerrit C Beekhof, Francesca Romana Fiocchi, Charlotte A Andriessen, Stephanie Dijkhuizen, Laura Post, Martijn Schonewill. Pre-ataxic loss of intrinsic plasticity and motor learning in a mouse model of SCA1. Brain : a journal of neurology. 2022-11-10. PMID:36352508. |
together, our results suggest that abnormal synaptic signalling and intrinsic plasticity during the pre-ataxia stage of spinocerebellar ataxias underlie an aberrant cerebellar circuitry that anticipates the full extent of the disease severity. |
2022-11-10 |
2023-08-14 |
mouse |
| Kavyashree Kulamarva, Umesh Chikkanna, Kishore Kumar Ramakrishna, Hemant Bhargav, Selva Ganapathy Velayutham, Shivarama Varamball. Integrative Approach Improves Fall Risk and Postural Stability in Spinocerebellar Ataxia-2 - A Case Report. International journal of yoga. vol 15. issue 2. 2022-11-04. PMID:36329776. |
spinocerebellar ataxias (scas) comprise a large heterogeneous group of autosomal dominant cerebellar ataxias. |
2022-11-04 |
2023-08-14 |
Not clear |
| Jing Guo, Zhouyu Jiang, Xinyuan Liu, Haoru Li, Bharat B Biswal, Bo Zhou, Wei Sheng, Qing Gao, Hui Chen, Yunshuang Fan, Wenyan Zhu, Jian Wang, Huafu Chen, Chen Li. Cerebello-cerebral resting-state functional connectivity in spinocerebellar ataxia type 3. Human brain mapping. 2022-10-17. PMID:36250694. |
spinocerebellar ataxia type 3 (sca3) is a neurodegenerative disorder characterized by progressive motor and nonmotor deficits concomitant with degenerative pathophysiological changes within the cerebellum. |
2022-10-17 |
2023-08-14 |
Not clear |
| Tatsuaki Kurosaki, Tetsuo Ashizaw. The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10. Frontiers in genetics. vol 13. 2022-10-06. PMID:36199580. |
spinocerebellar ataxia type 10 (sca10) is characterized by progressive cerebellar neurodegeneration and, in many patients, epilepsy. |
2022-10-06 |
2023-08-14 |
Not clear |
| Libera Siciliano, Giusy Olivito, Nicole Urbini, Maria Caterina Silveri, Maria Leggi. " Biomedicines. vol 10. issue 9. 2022-09-23. PMID:36140267. |
accordingly, this study aims to investigate whether motor reserve (mr), likely to be boosted by exercise engagement in a lifetime, affects motor symptom severity, cognitive functioning, and functional brain networks in spinocerebellar ataxia type 2 (sca2)-a cerebellar neurodegenerative disease. |
2022-09-23 |
2023-08-14 |
Not clear |
| Shigeki Hirano, Atsuhiko Sugiyama, Kimihito Ara. Noradrenergic Pathway to the Cerebellum: the Study Must Go On. Cerebellum (London, England). 2022-09-23. PMID:36149525. |
cerebellar dysfunction and noradrenergic system may relate to tremor in parkinson disease and essential tremor, motor learning, and the vestibulo-ocular reflex in spinocerebellar ataxias. |
2022-09-23 |
2023-08-14 |
rat |
| Ashley M Paul, Weiyi Mu, Ankur Butala, Kemar E Gree. Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome. Neurology. 2022-09-20. PMID:36127142. |
she was initially postulated to have spinocerebellar ataxia or atypical parkinsonism with cerebellar features. |
2022-09-20 |
2023-08-14 |
Not clear |
| Anna A Cook, Sriram Jayabal, Jacky Sheng, Eviatar Fields, Tsz Chui Sophia Leung, Sabrina Quilez, Eileen McNicholas, Lois Lau, Shixia Huang, Alanna J Wat. Activation of TrkB-Akt signaling rescues deficits in a mouse model of SCA6. Science advances. vol 8. issue 37. 2022-09-16. PMID:36112675. |
spinocerebellar ataxia type 6 (sca6) is a neurodegenerative disease resulting in motor coordination deficits and cerebellar pathology. |
2022-09-16 |
2023-08-14 |
mouse |
| Satoshi Zeniya, Nobuo Sanjo, Hiroya Kuwahara, Kinya Ishikawa, Miwa Higashi, Akiko Matsunaga, Makoto Yoneda, Hidehiro Mizusawa, Takanori Yokot. Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies. Internal medicine (Tokyo, Japan). vol 61. issue 18. 2022-09-14. PMID:36104177. |
this is the first report of cerebellar ataxia associated with genetic spinocerebellar ataxia with concomitant cerebellar type he. |
2022-09-14 |
2023-08-14 |
Not clear |
| Pallavi Asthana, Gajendra Kumar, Lukasz M Milanowski, Ngan Pan Bennett Au, Siu Chung Chan, Jianpan Huang, Hemin Feng, Kin Ming Kwan, Jufang He, Kannie Wai Yan Chan, Zbigniew K Wszolek, Chi Him Eddie M. Cerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression. NPJ Regenerative medicine. vol 7. issue 1. 2022-09-06. PMID:36064798. |
finally, we found a correlative decrease in human gria1 mrna expression in the cerebellum of patients with ataxia-telangiectasia and spinocerebellar ataxia type 6 patient ipsc-derived purkinje cells, pointing to the clinical relevance of glutamatergic system. |
2022-09-06 |
2023-08-14 |
mouse |
| Szilvia E Mezey, Josef P Kapfhammer, Etsuko Shimobayash. Transcriptome Profile of a New Mouse Model of Spinocerebellar Ataxia Type 14 Implies Changes in Cerebellar Development. Genes. vol 13. issue 8. 2022-08-26. PMID:36011327. |
transcriptome profile of a new mouse model of spinocerebellar ataxia type 14 implies changes in cerebellar development. |
2022-08-26 |
2023-08-14 |
mouse |