| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ignacio J Keller Sarmiento, Roberta Bovenzi, Morgan Kinsinger, Lisa Kinsley, Bernabe I Bustos, Dimitri Krainc, Niccolò E Mencacc. Novel In-Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4-Aminopyridine. Movement disorders : official journal of the Movement Disorder Society. 2025-03-29. PMID:40156335. |
spinocerebellar ataxia 27a (sca27a) is a rare neurodegenerative disorder characterized by childhood-onset tremor and progressive cerebellar dysfunction. |
2025-03-29 |
2025-04-01 |
Not clear |
| Felipe Arancibia, Fernanda Martin, Jenny Ruiz-Fuentes, Erbio Diaz, Tamara Hermosilla, Wendy Gonzalez, Felipe Simon, Diana Avila-Jaque, Mariana Luna-Álvarez, David José Dávila Ortiz de Montellano, Marcelo Miranda, M Leonor Bustamante, Diego Varel. Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families. Biological research. vol 58. issue 1. 2025-03-27. PMID:40140957. |
spinocerebellar ataxia 19/22 (sca19/22) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia and cerebellar atrophy. |
2025-03-27 |
2025-03-30 |
Not clear |
| Junxiang Yin, Jerelyn A Nick, Swati Khare, Heidi E Kloefkorn, Ming Gao, Michael Wu, Jennifer White, James L Resnick, Kyle D Allen, Harry S Nick, Michael F Water. A novel early onset spinocerebellar ataxia 13 BAC mouse model with cerebellar atrophy, tremor, and ataxic gait. Experimental animals. 2025-03-25. PMID:40128944. |
a novel early onset spinocerebellar ataxia 13 bac mouse model with cerebellar atrophy, tremor, and ataxic gait. |
2025-03-25 |
2025-03-27 |
mouse |
| Angel Omar Romero-Molina, Gabriel Ramirez-Garcia, Amanda Chirino-Perez, Gustavo Padron-Rivera, Carlos Roberto Hernandez-Castillo, Maria Guadalupe Garcia-Gomar, Diana Laura Torres-Vences, Juan Fernandez-Rui. Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10. PloS one. vol 20. issue 3. 2025-03-03. PMID:40029932. |
cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10. |
2025-03-03 |
2025-03-07 |
Not clear |
| Angel Omar Romero-Molina, Gabriel Ramirez-Garcia, Amanda Chirino-Perez, Gustavo Padron-Rivera, Carlos Roberto Hernandez-Castillo, Maria Guadalupe Garcia-Gomar, Diana Laura Torres-Vences, Juan Fernandez-Rui. Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10. PloS one. vol 20. issue 3. 2025-03-03. PMID:40029932. |
spinocerebellar ataxia type 10 (sca10) is an autosomal dominant cerebellar ataxia, characterized by epilepsy, ataxic symptoms, and cognitive impairments linked to cerebellar cognitive affective syndrome (ccas). |
2025-03-03 |
2025-03-07 |
Not clear |
| Sehwan Kim, Junwoo Park, Hyemi Eo, Gi Beom Lee, Se Min Park, Minsang Shin, Seung Eun Lee, Youngpyo Nam, Sang Ryong Ki. Intracerebellar upregulation of Rheb(S16H) ameliorates motor dysfunction in mice with SCA2. Acta pharmacologica Sinica. 2025-03-03. PMID:40033054. |
recently, we observed reduced expression of signaling molecules in the mammalian target of rapamycin complex 1 (mtorc1) pathway in the cerebellum of mice with spinocerebellar ataxia type 2 (sca2) compared with wild-type mice. |
2025-03-03 |
2025-03-06 |
mouse |
| Chih-Chun Lin, Ke-Chu Fang, Ilaria Balbo, Ting-Yu Liang, Chia-Wei Liu, Wen-Chuan Liu, Yi-Mei Wang, Yen-Ling Hung, Kai-Chien Yang, Scott Kun Geng, Chun-Lun Ni, Christopher P Driscoll, David S Ruff, Ami Kumar, Nadia Amokrane, Natasha Desai, Phyllis L Faust, Elan D Louis, Sheng-Han Kuo, Ming-Kai Pa. Reduced cerebellar rhythm by climbing fiber denervation is linked to motor rhythm deficits in mice and ataxia severity in patients. Science translational medicine. vol 17. issue 787. 2025-02-26. PMID:40009696. |
by examining cerebellar pathology in patients with spinocerebellar ataxia (sca) types 1, 2, and 6 and multiple system atrophy, we identified cf degeneration with synaptic loss as a shared pathophysiology. |
2025-02-26 |
2025-03-01 |
mouse |
| Koji Hayashi, Rina Izumi, Asuka Suzuki, Yuka Nakaya, Mamiko Sato, Toyoaki Miura, Kouji Hayashi, Yasutaka Kobayash. Exacerbation of Cerebellar Symptoms in Spinocerebellar Ataxia Induced by Lamotrigine: A Case Report. Cureus. vol 17. issue 1. 2025-02-17. PMID:39958116. |
exacerbation of cerebellar symptoms in spinocerebellar ataxia induced by lamotrigine: a case report. |
2025-02-17 |
2025-02-23 |
Not clear |
| Koji Hayashi, Rina Izumi, Asuka Suzuki, Yuka Nakaya, Mamiko Sato, Toyoaki Miura, Kouji Hayashi, Yasutaka Kobayash. Exacerbation of Cerebellar Symptoms in Spinocerebellar Ataxia Induced by Lamotrigine: A Case Report. Cureus. vol 17. issue 1. 2025-02-17. PMID:39958116. |
we describe a case of exacerbation of cerebellar symptoms following lamotrigine (ltg) treatment in a patient with the pure cerebellar type of spinocerebellar ataxia (sca). |
2025-02-17 |
2025-02-23 |
Not clear |
| Guoxu Song, Yuying Ma, Xing Gao, Xuewen Zhang, Fei Zhang, Chunhong Tian, Jiajia Hou, Zheng Liu, Zixin Zhao, Yong Tia. CRISPR/Cas9-mediated genetic correction reverses spinocerebellar ataxia 3 disease-associated phenotypes in differentiated cerebellar neurons. Life medicine. vol 1. issue 1. 2025-01-28. PMID:39872157. |
crispr/cas9-mediated genetic correction reverses spinocerebellar ataxia 3 disease-associated phenotypes in differentiated cerebellar neurons. |
2025-01-28 |
2025-01-30 |
Not clear |
| Stefan M Puls. Spinocerebellar Ataxia Type 2: A Review and Personal Perspective. Neurology. Genetics. vol 11. issue 1. 2025-01-28. PMID:39872677. |
spinocerebellar ataxias (scas) are dominantly inherited diseases that lead to neurodegeneration in the cerebellum and other parts of the nervous system. |
2025-01-28 |
2025-01-30 |
Not clear |
| Ludy C Shi. Emerging Deep Brain Stimulation Targets in the Cerebellum for Tremor. Cerebellum (London, England). vol 24. issue 2. 2025-01-27. PMID:39869292. |
four tremor disorders to date have been targeted with cerebellar dbs in humans: essential tremor, post-stroke tremor, dystonic tremor, and tremor associated with degenerative cerebellar ataxias, like spinocerebellar ataxia type 3. |
2025-01-27 |
2025-01-29 |
human |
| David Pellerin, Pablo Iruzubieta, Isaac R L Xu, Matt C Danzi, Andrea Cortese, Matthis Synofzik, Henry Houlden, Stephan Zuchner, Bernard Brai. Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions. Current neurology and neuroscience reports. vol 25. issue 1. 2025-01-17. PMID:39820740. |
autosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (scas), are genetically and clinically diverse neurodegenerative disorders characterized by progressive cerebellar dysfunction. |
2025-01-17 |
2025-01-20 |
Not clear |
| Lakshmi Madhuri Nallapaneni, Anish Mehta, Prabhudev Hiremath, R Pradeep, Mahendra Javali, Purushotham T Achary. Unravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss. Cerebellum (London, England). vol 24. issue 1. 2024-12-27. PMID:39729134. |
spinocerebellar ataxias (scas) are a diverse and heterogeneous group of inherited neurodegenerative disorders marked by progressive ataxia and cerebellar degeneration. |
2024-12-27 |
2024-12-29 |
Not clear |
| Kazuhiko Namikawa, Sol Pose-Méndez, Reinhard W Köste. Genetic modeling of degenerative diseases and mechanisms of neuronal regeneration in the zebrafish cerebellum. Cellular and molecular life sciences : CMLS. vol 82. issue 1. 2024-12-26. PMID:39725709. |
therefore, zebrafish is increasingly used for genetic modeling of human cerebellar neurodegenerative diseases and in particular of different types of spinocerebellar ataxias (scas). |
2024-12-26 |
2024-12-29 |
human |
| Jiaqi Li, Wenyi Xie, Jian-Min Chen, Chun-Zuan Xu, Ya-Li Huang, Sheng Chen, Chang-Yun Liu, Ying-Qian Lu, Zhang-Yu Zo. Clinical and functional characterization of a novel STUB1 mutation in a Chinese spinocerebellar ataxia 48 pedigree. Orphanet journal of rare diseases. vol 19. issue 1. 2024-12-21. PMID:39707479. |
spinocerebellar ataxias (scas) encompass a wide spectrum of inherited neurodegenerative diseases, primarily characterized by pathological changes in the cerebellum, spinal cord, and brainstem degeneration. |
2024-12-21 |
2024-12-24 |
Not clear |
| Chae Young Lim, Yujin Seo, Beomseok Sohn, Minjung Seong, Sung Tae Kim, Sungjun Hong, Jinyoung Youn, Eung Yeop Ki. The Inferior Cerebellar Peduncle Sign: A Novel Imaging Marker for Differentiating Multiple System Atrophy Cerebellar Type from Spinocerebellar Ataxia. AJNR. American journal of neuroradiology. 2024-12-14. PMID:39674591. |
the inferior cerebellar peduncle sign: a novel imaging marker for differentiating multiple system atrophy cerebellar type from spinocerebellar ataxia. |
2024-12-14 |
2024-12-21 |
Not clear |
| Joshua G Macopson-Jones, Maile Adams, Julien Philippe, Albert R La Spad. Increased nuclear import characterizes aberrant nucleocytoplasmic transport in neurons from patients with spinocerebellar ataxia type 7. Frontiers in molecular neuroscience. vol 17. 2024-12-09. PMID:39649105. |
spinocerebellar ataxia type 7 (sca7) is an inherited neurodegenerative disorder characterized by cerebellar and retinal degeneration. |
2024-12-09 |
2024-12-11 |
Not clear |
| Nabin Adhikari, Popular Pokhrel, Priyanka Kc, Navin Kumar Sah, Bhupendra Sha. Clinical diagnosis and management of spinocerebellar ataxia in a resource-constrained setting: a case report from Eastern Nepal. Annals of medicine and surgery (2012). vol 86. issue 12. 2024-12-09. PMID:39649858. |
spinocerebellar ataxias (sca) are a diverse group of neurodegenerative disorders with autosomal dominant inheritance, primarily affecting the cerebellum and its connections. |
2024-12-09 |
2024-12-12 |
Not clear |
| Yoshiharu Miura, Kenji Ishibash. Cerebellar type 1 metabotropic glutamate receptor availability decreases with disease progression in spinocerebellar ataxia type 6. Journal of the neurological sciences. vol 467. 2024-11-28. PMID:39608297. |
cerebellar type 1 metabotropic glutamate receptor availability decreases with disease progression in spinocerebellar ataxia type 6. |
2024-11-28 |
2024-12-01 |
Not clear |