| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ye Tu, Zheng Li, Fei Xiong, Feng Ga. Progressive white matter degeneration in patients with spinocerebellar ataxia type 2. Neuroradiology. 2023-12-01. PMID:38040824. |
spinocerebellar ataxia type 2 (sca2) is a progressive neurodegenerative disorder characterized by cerebellar atrophy. |
2023-12-01 |
2023-12-10 |
Not clear |
| Leon Tejwani, Neal G Ravindra, Changwoo Lee, Yubao Cheng, Billy Nguyen, Kimberly Luttik, Luhan Ni, Shupei Zhang, Logan M Morrison, John Gionco, Yangfei Xiang, Jennifer Yoon, Hannah Ro, Fatema Haidery, Rosalie M Grijalva, Eunwoo Bae, Kristen Kim, Regina T Martuscello, Harry T Orr, Huda Y Zoghbi, Hayley S McLoughlin, Laura P W Ranum, Vikram G Shakkottai, Phyllis L Faust, Siyuan Wang, David van Dijk, Janghoo Li. Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1. Neuron. 2023-11-28. PMID:38016472. |
to dissect how individual cell types within a heterogeneous tissue contribute to the pathogenesis and progression of a neurodegenerative disorder, we performed longitudinal single-nucleus rna sequencing of mouse and human spinocerebellar ataxia type 1 (sca1) cerebellar tissue, establishing continuous dynamic trajectories of each cell population. |
2023-11-28 |
2023-12-07 |
mouse |
| N Al-Arab, S Hannou. White matter integrity assessment in spinocerebellar ataxia type 2 (SCA2) patients. Clinical radiology. 2023-11-12. PMID:37953094. |
to assess the burden of white matter (wm) damage in the cerebrum and cerebellum of spinocerebellar ataxia type 2 (sca2) patients in an attempt to identify key regions affected by the neurodegenerative processes using diffusion tensor imaging (dti). |
2023-11-12 |
2023-11-20 |
Not clear |
| Francis M Chen, Huixian Li, Dittman Lai-Shun Chung, Angel T L Mak, Fung Ping Leung, Ho Yin Edwin Chan, Wing Tak Won. IL-4/STAT6 axis observed to reverse proliferative defect in SCA3 patient-derived neural progenitor cells. Clinical and experimental pharmacology & physiology. 2023-11-07. PMID:37933553. |
spinocerebellar ataxia 3 (sca3) is an incurable, neurodegenerative genetic disorder that leads to progressive cerebellar ataxia and other parkinsonian-like pathologies because of loss of cerebellar neurons. |
2023-11-07 |
2023-11-08 |
Not clear |
| Senmao Chai, Deyang Liu, Yajing Liu, Ming San. A novel c.3636-4 A>G mutation in the CCDC88C plays a causative role in familial spinocerebellar ataxia. Human heredity. 2023-10-29. PMID:37899026. |
spinocerebellar ataxia (sca) is an autosomal dominant genetic disease characterized by cerebellar neurological deficits. |
2023-10-29 |
2023-11-08 |
Not clear |
| Zhi-Xian Ye, Jin Bi, Liang-Liang Qiu, Xuan-Yu Chen, Meng-Cheng Li, Xin-Yuan Chen, Yu-Sen Qiu, Ru-Ying Yuan, Xin-Tong Yu, Chun-Yu Huang, Bi Cheng, Wei Lin, Wan-Jin Chen, Jian-Ping Hu, Ying Fu, Ning Wang, Shi-Rui Ga. Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3. Journal of neurology. 2023-10-17. PMID:37848650. |
cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3. |
2023-10-17 |
2023-11-08 |
Not clear |
| Zhi-Xian Ye, Jin Bi, Liang-Liang Qiu, Xuan-Yu Chen, Meng-Cheng Li, Xin-Yuan Chen, Yu-Sen Qiu, Ru-Ying Yuan, Xin-Tong Yu, Chun-Yu Huang, Bi Cheng, Wei Lin, Wan-Jin Chen, Jian-Ping Hu, Ying Fu, Ning Wang, Shi-Rui Ga. Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3. Journal of neurology. 2023-10-17. PMID:37848650. |
spinocerebellar ataxia type 3 (sca3; the most common hereditary ataxia) is neuropathologically characterized by cerebellar atrophy and frequently presents with cognitive impairment. |
2023-10-17 |
2023-11-08 |
Not clear |
| Victor Olmos, Evrett Thompson, Neha Gogia, Kimberly Luttik, Vaishnavi Veeranki, Luhan Ni, Serena Sim, Kelly Chen, Diane S Krause, Janghoo Li. Dysregulation of alternative splicing in spinocerebellar ataxia type 1. Human molecular genetics. 2023-10-06. PMID:37802886. |
we performed bulk rna sequencing in mouse models of spinocerebellar ataxia type 1 and identified that mutant ataxin-1 expression abnormally leads to diverse splicing events in the mouse cerebellum of spinocerebellar ataxia type 1. |
2023-10-06 |
2023-10-15 |
mouse |
| Prashant Phulpagar, Vikram V Holla, Deepti Tomar, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal, Babylakshmi Muthusam. Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17. Journal of human genetics. 2023-09-26. PMID:37752213. |
spinocerebellar ataxia, autosomal recessive-17 (scar17) is a rare hereditary ataxia characterized by ataxic gait, cerebellar signs and occasionally accompanied by intellectual disability and seizures. |
2023-09-26 |
2023-10-07 |
Not clear |
| Nicole Urbini, Libera Siciliano, Giusy Olivito, Maria Leggi. Unveiling the role of cerebellar alterations in the autonomic nervous system: a systematic review of autonomic dysfunction in spinocerebellar ataxias. Journal of neurology. 2023-09-25. PMID:37749264. |
unveiling the role of cerebellar alterations in the autonomic nervous system: a systematic review of autonomic dysfunction in spinocerebellar ataxias. |
2023-09-25 |
2023-10-07 |
Not clear |
| Nicole Urbini, Libera Siciliano, Giusy Olivito, Maria Leggi. Unveiling the role of cerebellar alterations in the autonomic nervous system: a systematic review of autonomic dysfunction in spinocerebellar ataxias. Journal of neurology. 2023-09-25. PMID:37749264. |
autonomic dysfunctions are prevalent in several cerebellar disorders, but they have not been systematically investigated in spinocerebellar ataxias (scas). |
2023-09-25 |
2023-10-07 |
Not clear |
| Elif Everest, Bade Gulec, Ugur Uygunogl. A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis-Coincidental or Associated? Cerebellum (London, England). 2023-09-16. PMID:37715888. |
spinocerebellar ataxia type 2 (sca2) is a dominantly inherited ataxia primarily characterised by progressive cerebellar syndrome, which is developed due to the expansion of the cag trinucleotide repeat within the first exon of the atxn2 gene. |
2023-09-16 |
2023-10-07 |
Not clear |
| Satomi Inomata-Terada, Hideki Fukuda, Shin-Ichi Tokushige, Shun-Ichi Matsuda, Masashi Hamada, Yoshikazu Ugawa, Shoji Tsuji, Yasuo Tera. Abnormal saccade profiles in hereditary spinocerebellar degeneration reveal cerebellar contribution to visually guided saccades. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. vol 154. 2023-08-12. PMID:37572405. |
to study how the pathophysiology underlying hereditary spinocerebellar degeneration (spinocerebellar ataxia; sca) with pure cerebellar manifestation evolves with disease progression using saccade recordings. |
2023-08-12 |
2023-08-16 |
Not clear |
| Yeboah Kofi Gyening, Keren Boris, Mignot Cyril, Richard S Brush, Marie-Cécile Nassogne, Martin-Paul Agbag. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. Acta neuropathologica communications. vol 11. issue 1. 2023-08-11. PMID:37568198. |
spinocerebellar ataxia 34 (sca34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused by mutations in the elongation of very long chain fatty acid-4 (elovl4) gene. |
2023-08-11 |
2023-08-16 |
Not clear |
| Stephanie Efthymiou, Luiz E Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F Vasconcellos, Salmo Raskin, Varunvenkat M Srinivasan, Alistair T Pagnamenta, Yaramanchanahalli B Arun, Uddhava V Kinhal, Vykuntaraju K Gowda, Helio A G Teive, Henry Houlde. Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn. Annals of clinical and translational neurology. 2023-08-09. PMID:37553803. |
bi-allelic variants in peroxiredoxin 3 (prdx3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvement. |
2023-08-09 |
2023-08-16 |
Not clear |
| Angela Sanna, Massimiliano Pau, Giuseppina Pilia, Micaela Porta, Giulia Casu, Valentina Secci, Emanuele Cartella, Alessandro Demattia, Stefano Firinu, Chiara Pau, Antonio Milia, Eleonora Cocco, Paolo Taccon. Comparison of Two Therapeutic Approaches of Cerebellar Transcranial Direct Current Stimulation in a Sardinian Family Affected by Spinocerebellar Ataxia 38: a Clinical and Computerized 3D Gait Analysis Study. Cerebellum (London, England). 2023-08-04. PMID:37540312. |
comparison of two therapeutic approaches of cerebellar transcranial direct current stimulation in a sardinian family affected by spinocerebellar ataxia 38: a clinical and computerized 3d gait analysis study. |
2023-08-04 |
2023-08-14 |
Not clear |
| Angela Sanna, Massimiliano Pau, Giuseppina Pilia, Micaela Porta, Giulia Casu, Valentina Secci, Emanuele Cartella, Alessandro Demattia, Stefano Firinu, Chiara Pau, Antonio Milia, Eleonora Cocco, Paolo Taccon. Comparison of Two Therapeutic Approaches of Cerebellar Transcranial Direct Current Stimulation in a Sardinian Family Affected by Spinocerebellar Ataxia 38: a Clinical and Computerized 3D Gait Analysis Study. Cerebellum (London, England). 2023-08-04. PMID:37540312. |
present findings, yet preliminary and limited by the small size of the tested sample, confirm the therapeutic potential of cerebellar tdcs in improving motor and cognitive symptoms in spinocerebellar ataxias and underline the need to obtain quantitative and objective measures to monitor the efficacy of a therapeutic treatment and to design tailored rehabilitative interventions. |
2023-08-04 |
2023-08-14 |
Not clear |
| Giulia Coarelli, Marie Coutelier, Alexandra Dur. Autosomal dominant cerebellar ataxias: new genes and progress towards treatments. The Lancet. Neurology. vol 22. issue 8. 2023-07-21. PMID:37479376. |
dominantly inherited spinocerebellar ataxias (scas) are associated with phenotypes that range from pure cerebellar to multisystemic. |
2023-07-21 |
2023-08-14 |
Not clear |
| Martina Sucha, Simona Benediktova, Filip Tichanek, Jan Jedlicka, Stepan Kapl, Dana Jelinkova, Zdenka Purkartova, Jan Tuma, Jitka Kuncova, Jan Cendeli. Experimental Treatment with Edaravone in a Mouse Model of Spinocerebellar Ataxia 1. International journal of molecular sciences. vol 24. issue 13. 2023-07-14. PMID:37445867. |
nevertheless, edaravone has not been tested yet in the context of spinocerebellar ataxia 1 (sca1), an incurable neurodegenerative disease characterized mainly by cerebellar disorder, with a strong contribution of inflammation and mitochondrial dysfunction. |
2023-07-14 |
2023-08-14 |
mouse |
| Yuting Shi, Guangdong Zou, Zhao Chen, Linlin Wan, Linliu Peng, Huirong Peng, Lu Shen, Kun Xia, Rong Qiu, Beisha Tang, Hong Jian. Efficacy of cerebellar transcranial magnetic stimulation in spinocerebellar ataxia type 3: a randomized, single-blinded, controlled trial. Journal of neurology. 2023-07-11. PMID:37433893. |
efficacy of cerebellar transcranial magnetic stimulation in spinocerebellar ataxia type 3: a randomized, single-blinded, controlled trial. |
2023-07-11 |
2023-08-14 |
Not clear |