| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Naoum P Issa, Serdar Aydin, Shail Bhatnagar, Nicholas W Baumgartner, Jacquelyn Hill, Sravya Aluri, Chloe S Valentic, Eric Polley, Christopher M Gomez, Kourosh Rezani. Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study. Cerebellum (London, England). 2023-07-10. PMID:37428409. |
spinocerebellar ataxias (scas) are familial neurodegenerative diseases involving the cerebellum and spinocerebellar tracts. |
2023-07-10 |
2023-08-14 |
human |
| Libera Siciliano, Giusy Olivito, Nicole Urbini, Maria Caterina Silveri, Maria Leggi. The rising role of cognitive reserve and associated compensatory brain networks in spinocerebellar ataxia type 2. Journal of neurology. 2023-07-08. PMID:37421466. |
the present study assessed cr and its impact on cognitive abilities in spinocerebellar ataxia type 2 (sca2), which is a rare cerebellar neurodegenerative disease. |
2023-07-08 |
2023-08-14 |
Not clear |
| Maurizio Cundari, Susanna Vestberg, Peik Gustafsson, Sorina Gorcenco, Anders Rasmusse. Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia. Frontiers in systems neuroscience. vol 17. 2023-07-07. PMID:37415926. |
neurocognitive and cerebellar function in adhd, autism and spinocerebellar ataxia. |
2023-07-07 |
2023-08-14 |
Not clear |
| Maurizio Cundari, Susanna Vestberg, Peik Gustafsson, Sorina Gorcenco, Anders Rasmusse. Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia. Frontiers in systems neuroscience. vol 17. 2023-07-07. PMID:37415926. |
several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (adhd), autism spectrum disorder (asd), as well as neurological diseases such as spinocerebellar ataxia type 3 (sca3) are associated with differences in cerebellar function. |
2023-07-07 |
2023-08-14 |
Not clear |
| Ziwei Gong, Lifang Le. Spinocerebellar ataxia type 11 (SCA11): An update. The European journal of neuroscience. 2023-06-17. PMID:37329117. |
spinocerebellar ataxias, also called autosomal dominant cerebellar ataxias, are a group of neurological genetic diseases characterised by chronic, progressive cerebellar ataxia. |
2023-06-17 |
2023-08-14 |
Not clear |
| Federica Pilotto, Christopher Douthwaite, Rim Diab, XiaoQian Ye, Zahraa Al Qassab, Christoph Tietje, Meriem Mounassir, Adolfo Odriozola, Aishwarya Thapa, Ronald A M Buijsen, Sophie Lagache, Anne-Christine Uldry, Manfred Heller, Stefan Müller, Willeke M C van Roon-Mom, Benoît Zuber, Sabine Liebscher, Smita Saxen. Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1. Neuron. 2023-06-15. PMID:37321222. |
using in vivo two-photon imaging in behaving spinocerebellar ataxia type 1 (sca1) mice, wherein purkinje neurons (pns) degenerate, we identify an inhibitory circuit element (molecular layer interneurons [mlins]) that becomes prematurely hyperexcitable, compromising sensorimotor signals in the cerebellum at early stages. |
2023-06-15 |
2023-08-14 |
mouse |
| Chandrakanth Reddy Edamakanti, Vishwa Mohan, Puneet Opa. Reactive Bergmann glia play a central role in spinocerebellar ataxia inflammation via the JNK pathway. Journal of neuroinflammation. vol 20. issue 1. 2023-05-26. PMID:37237366. |
the spinocerebellar ataxias (scas) are devastating neurological diseases characterized by progressive cerebellar incoordination. |
2023-05-26 |
2023-08-14 |
mouse |
| Karamazovova Simona, Matuskova Veronika, Ismail Zahinoor, Vyhnalek Marti. Neuropsychiatric symptoms in spinocerebellar ataxias and Friedreich ataxia. Neuroscience and biobehavioral reviews. 2023-05-03. PMID:37137435. |
spinocerebellar ataxias (sca) and friedreich ataxia (frda) are rare neurodegenerative diseases of the cerebellum presenting mainly with a progressive loss of gait and limb coordination, dysarthria, and other motor disturbances, but also a range of cognitive and neuropsychiatric symptoms. |
2023-05-03 |
2023-08-14 |
Not clear |
| Niharika Duggirala, Kathie J Ngo, Sabrina M Pagnoni, Alberto L Rosa, Brent L Foge. Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report. Journal of medical case reports. vol 17. issue 1. 2023-04-26. PMID:37101238. |
hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination. |
2023-04-26 |
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 |
| Polina A Egorova, Ksenia S Marinina, Ilya B Bezprozvann. Chronic suppression of STIM1-mediated calcium signaling in Purkinje cells rescues the cerebellar pathology in spinocerebellar ataxia type 2. Biochimica et biophysica acta. Molecular cell research. 2023-03-20. PMID:36940741. |
chronic suppression of stim1-mediated calcium signaling in purkinje cells rescues the cerebellar pathology in spinocerebellar ataxia type 2. |
2023-03-20 |
2023-08-14 |
mouse |