| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rodrigo Brito, João Victor Fabrício, Aurine Araujo, Gabriel Barreto, Adriana Baltar, Kátia Monte-Silv. Single-Session Cerebellar Transcranial Direct Current Stimulation Improves Postural Stability and Reduces Ataxia Symptoms in Spinocerebellar Ataxia. Cerebellum (London, England). 2024-05-01. PMID:38693314. |
single-session cerebellar transcranial direct current stimulation improves postural stability and reduces ataxia symptoms in spinocerebellar ataxia. |
2024-05-01 |
2024-05-04 |
human |
| Yuqiu Zheng, Yingfang She, Zhengwei Su, Kanghui Huang, Shuda Chen, Liemin Zho. A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-03-03. PMID:38433132. |
spinocerebellar ataxia autosomal recessive 23 (scar23) is a rare disease caused by the pathogenic mutation of tdp2 gene and characterized by intellectual disability, progressive ataxia and refractory epilepsy. |
2024-03-03 |
2024-03-06 |
Not clear |
| Marina Sanchez-Flores, Marc Corral-Juan, Esther Gasch-Navalón, Davide Cirillo, Ivelisse Sanchez, Antoni Matilla-Dueña. Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC) Human genetics. 2024-02-24. PMID:38396267. |
novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (atttc) spinocerebellar ataxia subtype 37 (sca37) is a rare disease originally identified in ataxia patients from the iberian peninsula with a pure cerebellar syndrome. |
2024-02-24 |
2024-02-26 |
Not clear |
| Chi-Ying R Lin, Sheng-Han Kuo, Puneet Opa. Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias. Current neurology and neuroscience reports. 2024-01-25. PMID:38270820. |
spinocerebellar ataxias (scas) are autosomal dominant degenerative syndromes that present with ataxia and brain stem abnormalities. |
2024-01-25 |
2024-01-27 |
Not clear |
| Diana Avila-Jaque, Fernanda Martin, M Leonor Bustamante, Mariana Luna Álvarez, José Manuel Fernández, David José Dávila Ortiz de Montellano, Rosa Pardo, Diego Varela, Marcelo Mirand. The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients. Cerebellum (London, England). 2024-01-05. PMID:38180701. |
spinocerebellar ataxia 19 (sca19) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia and cerebellar atrophy. |
2024-01-05 |
2024-01-07 |
Not clear |
| Ranita Ghosh Dastidar, Saradindu Banerjee, Piyush Behari Lal, Somasish Ghosh Dastida. Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders. Molecular neurobiology. 2023-11-27. PMID:38012514. |
this review delineates the cellular functions of afg3l2 and its dysfunction that leads to major clinical outcomes, which include spinocerebellar ataxia type 28, spastic ataxia type 5, and optic atrophy type 12. |
2023-11-27 |
2023-11-29 |
Not clear |
| Guan Hongmei, Sun Xiaofang, Song Bin. Establishment of human-induced pluripotent stem cell GZHMCi0011-A from peripheral blood mononuclear cells from a volunteer with 14/63 CAG repeats of the ATXN3 mutation. Stem cell research. vol 72. 2023-11-03. PMID:37866221. |
spinocerebellar ataxia type 3 (sca3) is a genetic degeneration disease of the nervous system with ataxia as the main clinical manifestation, and the most frequent subtype of sca3 is known to be caused by cag repeat expansions of more than 55 units in atxn3. |
2023-11-03 |
2023-11-08 |
human |
| 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 |
| Hagy Hannah, Gianna Hill, Maureen Lac. A - 49 Neuropsychological and Clinical Features of Ataxia Due to CACNA1A (P.1661H) Mutation: a Case Study. Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists. 2023-10-09. PMID:37807145. |
mutations in cacna1a gene can cause rare neurodegenerative conditions [spinocerebellar ataxia type 6 (sca6); episodic ataxia type 2 (ea2)] which are caused by autosomal dominant mutations located on chromosome 19p13. |
2023-10-09 |
2023-10-15 |
Not clear |
| Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D'Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecc. Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5. Brain : a journal of neurology. 2023-10-07. PMID:37804316. |
heterozygous afg3l2 mutations cause spinocerebellar ataxia type 28 (sca28) or dominant optic atrophy type 12 (doa12), while biallelic afg3l2 mutations result in the rare and severe spastic ataxia type 5 (spax5). |
2023-10-07 |
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 |
| 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 |
| 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 |
| Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anais Grosset, Ines Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie-Josée Dicaire, François Evoy, Marie-France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C Danzi, Stephan Zuchner, Bernard Brais, Mathilde Renau. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B. Scientific reports. vol 13. issue 1. 2023-06-15. PMID:37322040. |
dominantly inherited gaa repeat expansions in fgf14 are a common cause of spinocerebellar ataxia (gaa-fgf14 ataxia; spinocerebellar ataxia 27b). |
2023-06-15 |
2023-08-14 |
Not clear |
| Zhengxiang Hu, Xinyi Tao, Ziyang Huang, Kunrong Xie, Siya Zhu, Xulin Weng, Dezheng Lin, Yuxin Zhang, Lingzhi Wan. Efficacy of high-frequency repetitive transcranial magnetic stimulation in a family with spinocerebellar ataxia type 3: A case report. Heliyon. vol 9. issue 5. 2023-05-23. PMID:37215811. |
spinocerebellar ataxia type 3 (sca3) is a common autosomal dominant hereditary ataxia, which is caused by a cytosine-adenine-guanine (cag) repeat expansion on the causative gene atxn3, usually with lower extremity ataxia as the first symptom, and effective treatment is scarce. |
2023-05-23 |
2023-08-14 |
Not clear |
| Enza Ferrero, Eleonora Di Gregorio, Marta Ferrero, Erika Ortolan, Young-Ah Moon, Antonella Di Campli, Lisa Pavinato, Cecilia Mancini, Debasmita Tripathy, Marta Manes, Eriola Hoxha, Chiara Costanzi, Elisa Pozzi, Matteo Rossi Sebastiano, Nico Mitro, Filippo Tempia, Donatella Caruso, Barbara Borroni, Manuela Basso, Michele Sallese, Alfredo Brusc. Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot. Human genetics. 2023-05-18. PMID:37199746. |
a missense variant (c.689g>t p.gly230val) in elovl5 causes spinocerebellar ataxia subtype 38 (sca38), a neurodegenerative disorder characterized by autosomal dominant inheritance, cerebellar purkinje cell demise and adult-onset ataxia. |
2023-05-18 |
2023-08-14 |
mouse |
| Benjamin Ellezam, Matsanga L Kaseka, Dang Khoa Nguyen, Jean Michau. SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders. Acta neuropathologica. 2023-05-15. PMID:37184663. |
spinocerebellar ataxia 34 (sca34) is a late-onset progressive ataxia caused by a mutation in elovl4, a gene involved in the biosynthesis of very long-chain fatty acids (vlcfas). |
2023-05-15 |
2023-08-14 |
Not clear |
| Carlo Wilke, David Pellerin, David Mengel, Andreas Traschütz, Matt C Danzi, Marie-Josée Dicaire, Manuela Neumann, Holger Lerche, Benjamin Bender, Henry Houlden, Ludger Schöls, Bernard Brais, Matthis Synofzi. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain : a journal of neurology. 2023-05-11. PMID:37165652. |
ataxia due to an autosomal dominant intronic gaa repeat expansion in fgf14 (gaa-fgf14 ataxia, spinocerebellar ataxia 27b [sca27b]) has recently been identified as one of the most common genetic late-onset ataxias. |
2023-05-11 |
2023-08-14 |
Not clear |
| Nicole M Eklund, Jessey Ouillon, Vineet Pandey, Christopher D Stephen, Jeremy D Schmahmann, Jeremy Edgerton, Krzysztof Z Gajos, Anoopum S Gupt. Real-life ankle submovements and computer mouse use reflect patient-reported function in adult ataxias. Brain communications. vol 5. issue 2. 2023-03-30. PMID:36993945. |
thirty-four individuals with degenerative ataxias (spinocerebellar ataxia types 1, 2, 3 and 6 and multiple system atrophy of the cerebellar type) and eight age-matched controls completed the cross-sectional study. |
2023-03-30 |
2023-08-14 |
mouse |
| Sophie Tezenas du Montcel, Emilien Petit, Titilayo Olubajo, Jennifer Faber, Pauline Lallemant-Dudek, Khalaf Bushara, Susan Perlman, Sub H Subramony, David Morgan, Brianna Jackman, Henry Lauris Paulson, Gülin Öz, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizaw. Baseline Clinical and Blood Biomarker in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology. 2023-02-16. PMID:36797067. |
in spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations or biomarkers modifications. |
2023-02-16 |
2023-08-14 |
Not clear |