| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Piervito Lopriore, Marco Vista, Alessandra Tessa, Martina Giuntini, Elena Caldarazzo Ienco, Michelangelo Mancuso, Gabriele Siciliano, Filippo Maria Santorelli, Daniele Orsucc. Primary Coenzyme Q10 Deficiency-Related Ataxias. Journal of clinical medicine. vol 13. issue 8. 2024-04-27. PMID:38673663. |
cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. |
2024-04-27 |
2024-04-29 |
Not clear |
| Shinichi Shirai, Ichiro Yabe, Ikuko Takahashi-Iwata, Masaaki Matsushima, Yoichi M Ito, Kaoru Takakusaki, Hidenao Sasak. The Responsiveness of Triaxial Accelerometer Measurement of Gait Ataxia Is Higher than That of the Scale for the Assessment and Rating of Ataxia in the Early Stages of Spinocerebellar Degeneration. Cerebellum (London, England). vol 18. issue 4. 2020-01-13. PMID:30993540. |
considering that gait ataxia is a typical initial symptom in a variety of spinocerebellar degeneration (scd), we aimed to develop quantitative biomarkers for cerebellar ataxia as metric variables. |
2020-01-13 |
2023-08-13 |
Not clear |
| Katharina Feil, Tatiana Bremova, Carolin Muth, Roman Schniepp, Julian Teufel, Michael Strup. Update on the Pharmacotherapy of Cerebellar Ataxia and Nystagmus. Cerebellum (London, England). vol 15. issue 1. 2016-10-21. PMID:26519380. |
there are ongoing randomized placebo-controlled trials on ea2 with 4-ap versus acetazolamide (eat-2-treat), cerebellar gait ataxia with 4-ap (faceg), and a multinational trial on cerebellar ataxia with acetyl-dl-leucine (alcat). |
2016-10-21 |
2023-08-13 |
Not clear |
| Hélio A G Teive, Mariana Moscovich, Adriana Moro, Marina Farah, Walter O Arruda, Renato P Munho. Idiopathic very late-onset cerebellar ataxia: a Brazilian case series. Arquivos de neuro-psiquiatria. vol 73. issue 11. 2016-03-31. PMID:26517211. |
the authors present a brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy. |
2016-03-31 |
2023-08-13 |
Not clear |
| Yvonne L Clarkson, Emma M Perkins, Callum J Cairncross, Alastair R Lyndon, Paul A Skehel, Mandy Jackso. β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations. Human molecular genetics. vol 23. issue 14. 2015-02-09. PMID:24603075. |
spinocerebellar ataxia type 5 (sca5) and spectrin associated autosomal recessive cerebellar ataxia type 1 are human neurodegenerative diseases involving progressive gait ataxia and cerebellar atrophy. |
2015-02-09 |
2023-08-12 |
human |
| Anne Noreau, Cynthia V Bourassa, Anna Szuto, Annie Levert, Sylvia Dobrzeniecka, Julie Gauthier, Sylvie Forlani, Alexandra Durr, Mathieu Anheim, Giovanni Stevanin, Alexis Brice, Jean-Pierre Bouchard, Patrick A Dion, Nicolas Dupré, Guy A Roulea. SYNE1 mutations in autosomal recessive cerebellar ataxia. JAMA neurology. vol 70. issue 10. 2014-02-14. PMID:23959263. |
autosomal recessive cerebellar ataxia type i, also known as recessive ataxia of beauce, is a slowly progressive ataxia that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild oculomotor abnormalities, and diffuse cerebellar atrophy on brain imaging. |
2014-02-14 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Yves Agid, Michel Koenig, Giovanni Stevanin, Alexis Brice, Alexandra Dür. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain : a journal of neurology. vol 127. issue Pt 4. 2004-05-20. PMID:14736755. |
ataxia with oculomotor apraxia type 2 (aoa2) is a newly described autosomal recessive cerebellar ataxia (arca) defined by genetic location to 9q34 of three families sharing gait ataxia, oculomotor apraxia and/or elevated alpha-foetoprotein (afp) levels. |
2004-05-20 |
2023-08-12 |
Not clear |