| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Emmet M Power, Natalya A English, Ruth M Empso. Are Type 1 metabotropic glutamate receptors a viable therapeutic target for the treatment of cerebellar ataxia? The Journal of physiology. vol 594. issue 16. 2017-08-29. PMID:26748626. |
given the availability and ongoing refinement of selective pharmacological tools to either reduce (negative allosteric modulation) or boost (positive allosteric modulation) mglur1 activity, our findings suggest that pharmacological manipulation of these receptors should be explored as an exciting new approach for the treatment of a variety of human cerebellar ataxias. |
2017-08-29 |
2023-08-13 |
mouse |
| Emma Perkins, Daumante Suminaite, Mandy Jackso. Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways. The Journal of physiology. vol 594. issue 16. 2017-08-29. PMID:26821241. |
cerebellar ataxias: β-iii spectrin's interactions suggest common pathogenic pathways. |
2017-08-29 |
2023-08-13 |
Not clear |
| G J Stephen. Does modulation of the endocannabinoid system have potential therapeutic utility in cerebellar ataxia? The Journal of physiology. vol 594. issue 16. 2017-08-29. PMID:26970080. |
cerebellar ataxias represent a spectrum of disorders which are, however, linked by common symptoms of motor incoordination and typically associated with deficiency in purkinje cell firing activity and, often, degeneration. |
2017-08-29 |
2023-08-13 |
mouse |
| G J Stephen. Does modulation of the endocannabinoid system have potential therapeutic utility in cerebellar ataxia? The Journal of physiology. vol 594. issue 16. 2017-08-29. PMID:26970080. |
cerebellar ataxias currently lack a curative agent. |
2017-08-29 |
2023-08-13 |
mouse |
| G J Stephen. Does modulation of the endocannabinoid system have potential therapeutic utility in cerebellar ataxia? The Journal of physiology. vol 594. issue 16. 2017-08-29. PMID:26970080. |
in light of these points, the potential mechanisms whereby cannabinoids may modulate the ecb system to ameliorate dysfunction associated with cerebellar ataxias are considered. |
2017-08-29 |
2023-08-13 |
mouse |
| Pratap Meera, Stefan M Pulst, Thomas S Oti. Cellular and circuit mechanisms underlying spinocerebellar ataxias. The Journal of physiology. vol 594. issue 16. 2017-08-29. PMID:27198167. |
together these findings indicate that aberrant calcium signalling and profound changes in pn neurophysiology precede pn cell loss and are likely to lead to cerebellar circuit dysfunction that explains behavioural signs of ataxia characteristic of the disease. |
2017-08-29 |
2023-08-13 |
mouse |
| Christoph Helmchen, Jan-Birger Kirchhoff, Martin Göttlich, Andreas Sprenge. Postural Ataxia in Cerebellar Downbeat Nystagmus: Its Relation to Visual, Proprioceptive and Vestibular Signals and Cerebellar Atrophy. PloS one. vol 12. issue 1. 2017-08-28. PMID:28056109. |
postural ataxia in cerebellar downbeat nystagmus: its relation to visual, proprioceptive and vestibular signals and cerebellar atrophy. |
2017-08-28 |
2023-08-13 |
Not clear |
| Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado, Joshua Rotenberg, Richard Alan Lewis, Lisa Emrick, Carlos A Bacino, Mohammad K Eldomery, Zeynep Coban Akdemir, Fan Xia, Yaping Yang, Seema R Lalani, Timothy Lotze, James R Lupski, Brendan Lee, Hugo J Bellen, Michael F Wangle. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS genetics. vol 13. issue 7. 2017-08-21. PMID:28742085. |
exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.r1673p), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.r1664q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities. |
2017-08-21 |
2023-08-13 |
human |
| Viorica Chelban, Nisha Patel, Jana Vandrovcova, M Natalia Zanetti, David S Lynch, Mina Ryten, Juan A Botía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou, Indran Davagnanam, Fahad A Bashiri, Nicholas W Wood, James E Rothman, Fowzan S Alkuraya, Henry Houlde. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. American journal of human genetics. vol 100. issue 6. 2017-07-31. PMID:28575651. |
they are still alive in their 30s and 40s and show predominant ataxia and cerebellar atrophy features on imaging. |
2017-07-31 |
2023-08-13 |
mouse |
| Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie-Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau, Kym M Boycott, Jacek Majewski, Bernard Brai. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. European journal of human genetics : EJHG. vol 24. issue 7. 2017-07-26. PMID:26626314. |
hereditary cerebellar ataxias and hereditary spastic paraplegias are clinically and genetically heterogeneous and often overlapping neurological disorders. |
2017-07-26 |
2023-08-13 |
Not clear |
| Amelia Kate Pollard, Emma Louise Craig, Lisa Chakrabart. Mitochondrial Complex 1 Activity Measured by Spectrophotometry Is Reduced across All Brain Regions in Ageing and More Specifically in Neurodegeneration. PloS one. vol 11. issue 6. 2017-07-26. PMID:27333203. |
the mouse model of ataxia predictably has a lower complex 1 activity in the cerebellum, and although reductions are measured in the cortex and brain stem, the remaining activity is higher than in the aged brains. |
2017-07-26 |
2023-08-13 |
mouse |
| Ivelisse Sánchez, Eudald Balagué, Antoni Matilla-Dueña. Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1). Human molecular genetics. vol 25. issue 18. 2017-07-20. PMID:27466200. |
a polyglutamine expansion within the ataxin-1 protein (atxn1) underlies spinocerebellar ataxia type-1 (sca1), a neurological disorder mainly characterized by ataxia and cerebellar deficits. |
2017-07-20 |
2023-08-13 |
mouse |
| Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stevanin, Alexandra Dur. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology. vol 140. issue 6. 2017-07-19. PMID:28444220. |
autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. |
2017-07-19 |
2023-08-13 |
Not clear |
| Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schül. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain : a journal of neurology. vol 140. issue 6. 2017-07-19. PMID:28459997. |
despite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. |
2017-07-19 |
2023-08-13 |
human |
| Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzol. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain : a journal of neurology. vol 140. issue 6. 2017-07-19. PMID:28549128. |
we report deletions that generate chimeric atad3b/atad3a fusion genes in individuals from four unrelated families with fatal congenital pontocerebellar hypoplasia, whereas a case with genomic rearrangements affecting the atad3c/atad3b genes on one allele and atad3b/atad3a genes on the other displays later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia. |
2017-07-19 |
2023-08-13 |
Not clear |
| Nélio Gonçalves, Ana T Simões, Rui D Prediger, Hirokazu Hirai, Rodrigo A Cunha, Luís Pereira de Almeid. Caffeine alleviates progressive motor deficits in a transgenic mouse model of spinocerebellar ataxia. Annals of neurology. vol 81. issue 3. 2017-06-30. PMID:28032667. |
here we investigated the ability of caffeine to alleviate behavioral deficits and cerebellar neuropathology in transgenic mice with a severe ataxia resulting from expression of a truncated fragment of polyglutamine-expanded ataxin-3 in purkinje cells. |
2017-06-30 |
2023-08-13 |
mouse |
| Kevin C Kemp, Amelia J Cook, Juliana Redondo, Kathreena M Kurian, Neil J Scolding, Alastair Wilkin. Purkinje cell injury, structural plasticity and fusion in patients with Friedreich's ataxia. Acta neuropathologica communications. vol 4. issue 1. 2017-06-21. PMID:27215193. |
for the first time in a genetic condition, we have also shown a disease-related increase in the frequency of purkinje cell fusion and heterokaryon formation in friedreich's ataxia cases; with evidence that underlying levels of cerebellar inflammation influence heterokaryon formation. |
2017-06-21 |
2023-08-13 |
Not clear |
| S Barresi, M Niceta, P Alfieri, V Brankovic, G Piccini, A Bruselles, M R Barone, R Cusmai, M Tartaglia, E Bertini, G Zann. Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clinical genetics. vol 91. issue 1. 2017-06-13. PMID:27062503. |
we performed trio-based whole-exome sequencing of 12 families with congenital cerebellar and/or vermis atrophy in parallel with targeted next-generation sequencing of known ataxia genes (cacna1a, itpr1, kcnc3, atp2b3 and grm1) in 12 additional patients with a similar phenotype. |
2017-06-13 |
2023-08-13 |
Not clear |
| Melanie D Mark, Jan Claudius Schwitalla, Michelle Groemmke, Stefan Herlitz. Keeping Our Calcium in Balance to Maintain Our Balance. Biochemical and biophysical research communications. vol 483. issue 4. 2017-06-06. PMID:27392710. |
hereditary ataxias make up a remarkably diverse group of neurological disorders clinically characterized by gait ataxia, nystagmus, dysarthria, trunk and limb ataxia and often atrophy of the cerebellum. |
2017-06-06 |
2023-08-13 |
mouse |
| Melanie D Mark, Jan Claudius Schwitalla, Michelle Groemmke, Stefan Herlitz. Keeping Our Calcium in Balance to Maintain Our Balance. Biochemical and biophysical research communications. vol 483. issue 4. 2017-06-06. PMID:27392710. |
the gene mutations responsible for half of the ea members and over 35 of the sca subtypes have been identified, and several have been found to be responsible for cerebellar atrophy, abnormal intracellular calcium levels, dysregulation of purkinje cell pacemaking, altered cerebellar synaptic transmission and/or ataxia in mouse models. |
2017-06-06 |
2023-08-13 |
mouse |