Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Anna Niewiadomska-Cimicka, Antoine Hache, Yvon Trottie. Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion. Frontiers in neuroscience. vol 14. 2020-09-28. PMID:32581696. |
polyq scas are characterized by degeneration of the cerebellum and its associated structures and lead to progressive ataxia and other diverse symptoms. |
2020-09-28 |
2023-08-13 |
Not clear |
Leema P Cornelius, Vivekasaravanan Raju, Asir Juli. Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy. Annals of Indian Academy of Neurology. vol 23. issue 3. 2020-09-28. PMID:32606543. |
hyperargininemia presenting as intermittent ataxia and cerebellar atrophy. |
2020-09-28 |
2023-08-13 |
Not clear |
Omar Jiménez-Zarazúa, Lourdes Noemí Vélez-Ramírez, María Alcocer-León, Diego Armando Hernández-Domínguez, Juana Elizabeth Tadeo-González, María Andrea Martínez-Rivera, Martín Daniel Alejandro López-González, Sandra Xaviera Lizeth Tafoya-Rojas, Jaime Daniel Mondragó. Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer. Case reports in oncology. vol 13. issue 2. 2020-09-28. PMID:32774248. |
paraneoplastic cerebellar degeneration (pcd) is one of the classic pns and is characterized by acute or subacute onset of ataxia and/or presence of onconeural antibodies. |
2020-09-28 |
2023-08-13 |
Not clear |
José Luiz Pedroso, Wladimir Bocca Vieira de Rezende Pinto, Orlando Graziani Povoas Barsottini, Acary Souza Bulle Oliveir. Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? Cerebellum & ataxias. vol 7. 2020-09-28. PMID:32922825. |
despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for scas remains a complex and expensive clinical challenge. |
2020-09-28 |
2023-08-13 |
Not clear |
Elan D Louis, Phyllis L Faus. Essential tremor: the most common form of cerebellar degeneration? Cerebellum & ataxias. vol 7. 2020-09-28. PMID:32922824. |
the degenerative cerebellar ataxias comprise a large and heterogeneous group of neurological diseases whose hallmark clinical feature is ataxia, and which are accompanied, to variable degrees, by other features that are attributable to cerebellar dysfunction. |
2020-09-28 |
2023-08-13 |
Not clear |
Peter Kovermann, Verena Untiet, Yulia Kolobkova, Miriam Engels, Stephan Baader, Karl Schilling, Christoph Fahlk. Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6. Brain communications. vol 2. issue 1. 2020-09-28. PMID:32954283. |
transgenic mice display epilepsy, ataxia and cerebellar atrophy and, thus, closely resemble the human disease. |
2020-09-28 |
2023-08-13 |
mouse |
Peter Kovermann, Verena Untiet, Yulia Kolobkova, Miriam Engels, Stephan Baader, Karl Schilling, Christoph Fahlk. Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6. Brain communications. vol 2. issue 1. 2020-09-28. PMID:32954283. |
this study shows how gain-of-function of glutamate transporter-associated anion channels causes ataxia through modifying cerebellar development. |
2020-09-28 |
2023-08-13 |
mouse |
Marios Hadjivassilio. Advances in Therapies of Cerebellar Disorders: Immune-mediated Ataxias. CNS & neurological disorders drug targets. vol 18. issue 6. 2020-09-24. PMID:29268693. |
advances in therapies of cerebellar disorders: immune-mediated ataxias. |
2020-09-24 |
2023-08-13 |
Not clear |
Marios Hadjivassilio. Advances in Therapies of Cerebellar Disorders: Immune-mediated Ataxias. CNS & neurological disorders drug targets. vol 18. issue 6. 2020-09-24. PMID:29268693. |
the identification of an increasing number of immune mediated ataxias suggests that the cerebellum is often a target organ for autoimmune insults. |
2020-09-24 |
2023-08-13 |
Not clear |
Sinem Tunc, Nastasja Baginski, Juliane Lubs, Julien F Bally, Anne Weissbach, Magdalena Khira Baaske, Vera Tadic, Norbert Brüggemann, Tobias Bäumer, Christian Beste, Alexander Müncha. Predictive coding and adaptive behavior in patients with genetically determined cerebellar ataxia--A neurophysiology study. NeuroImage. Clinical. vol 24. 2020-09-22. PMID:31678909. |
genetically determined cerebellar ataxias (ca) are a heterogeneous group of disorders with progressive decline of cerebellar functions. |
2020-09-22 |
2023-08-13 |
Not clear |
G E Rudenskaya, V A Kadnikova, O P Ryzhkov. [Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 120. issue 2. 2020-09-17. PMID:32307416. |
spastic ataxia of charlevoix-saguenay (arsacs) is a rare autosomal recessive neurodegenerative disease related to sacs gene and characterized by cerebellar, pyramidal and some other signs. |
2020-09-17 |
2023-08-13 |
Not clear |
Amy F Juliano, Bruno Policeni, Vikas Agarwal, Judah Burns, Julie Bykowski, H Benjamin Harvey, Jenny K Hoang, Christopher H Hunt, Tabassum A Kennedy, Gul Moonis, Jeffrey S Pannell, Matthew S Parsons, William J Powers, Joshua M Rosenow, Jason W Schroeder, Konstantin Slavin, Matthew T Whitehead, Amanda S Core. ACR Appropriateness Criteria Journal of the American College of Radiology : JACR. vol 16. issue 5S. 2020-09-14. PMID:31054758. |
acr appropriateness criteria ataxia can result from an abnormality in the cerebellum, spinal cord, peripheral nerves, and/or vestibular system. |
2020-09-14 |
2023-08-13 |
Not clear |
Maedeh Mahmoudi, Amir-Hossein Bayat, Mahdi Eskandarian Boroujeni, Mohammad Amin Abdollahifar, Vahid Ebrahimi, Samira Danyali, Mohammad Hassan Heidari, Abbas Aliaghae. Curcumin protects purkinje neurons, ameliorates motor function and reduces cerebellar atrophy in rat model of cerebellar ataxia induced by 3-AP. Journal of chemical neuroanatomy. vol 102. 2020-09-14. PMID:31669431. |
cerebellar ataxias comprise a group of terminal illnesses with ataxia as the main symptom. |
2020-09-14 |
2023-08-13 |
rat |
Russell S Dulman, James Auta, Tara Teppen, Subhash C Pande. Acute Ethanol Produces Ataxia and Induces Fmr1 Expression via Histone Modifications in the Rat Cerebellum. Alcoholism, clinical and experimental research. vol 43. issue 6. 2020-09-03. PMID:30969437. |
acute ethanol produces ataxia and induces fmr1 expression via histone modifications in the rat cerebellum. |
2020-09-03 |
2023-08-13 |
rat |
Russell S Dulman, James Auta, Tara Teppen, Subhash C Pande. Acute Ethanol Produces Ataxia and Induces Fmr1 Expression via Histone Modifications in the Rat Cerebellum. Alcoholism, clinical and experimental research. vol 43. issue 6. 2020-09-03. PMID:30969437. |
the cerebellum is fundamental for motor coordination and therefore crucial in ethanol (etoh)-induced ataxia. |
2020-09-03 |
2023-08-13 |
rat |
Russell S Dulman, James Auta, Tara Teppen, Subhash C Pande. Acute Ethanol Produces Ataxia and Induces Fmr1 Expression via Histone Modifications in the Rat Cerebellum. Alcoholism, clinical and experimental research. vol 43. issue 6. 2020-09-03. PMID:30969437. |
recent studies have implicated glutamatergic targets of fmrp in hereditary cerebellar ataxias including the main cerebellar excitatory amino acid (eaa1) transporter and a subtype of metabotropic glutamate receptor (grm5). |
2020-09-03 |
2023-08-13 |
rat |
A Artero Castro, C Machuca, F J Rodriguez Jimenez, P Jendelova, S Erce. Short Review: Investigating ARSACS: models for understanding cerebellar degeneration. Neuropathology and applied neurobiology. vol 45. issue 6. 2020-08-31. PMID:30636067. |
autosomal recessive spastic ataxia of charlevoix-saguenay (arsacs) is an early-onset neurodegenerative disease that includes progressive cerebellar dysfunction. |
2020-08-31 |
2023-08-13 |
human |
Basma Yacoubi, Agostina Casamento-Moran, Roxana G Burciu, S H Subramony, David E Vaillancourt, Evangelos A Christo. Temporal Invariance in SCA6 Is Related to Smaller Cerebellar Lobule VI and Greater Disease Severity. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 40. issue 8. 2020-08-17. PMID:31941666. |
we quantified the endpoint control of these contractions, gray matter (gm) integrity of the cerebellum, and disease severity using the international cooperative ataxia rating scale (icars). |
2020-08-17 |
2023-08-13 |
human |
Magdalena Krygier, Mariusz Kwarciany, Krystyna Wasilewska, Victor Murcia Pienkowski, Natalia Krawczyńska, Daniel Zielonka, Joanna Kosińska, Piotr Stawinski, Monika Rudzińska-Bar, Magdalena Boczarska-Jedynak, Bartosz Karaszewski, Janusz Limon, Jarosław Sławek, Rafał Płoski, Małgorzata Rydzanic. A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. Clinical genetics. vol 95. issue 3. 2020-08-03. PMID:30548255. |
in addition, our study confirms the high diagnostic yield of ngs in early-onset cerebellar ataxias, with at least 50% detection rate in our ataxia cohort. |
2020-08-03 |
2023-08-13 |
mouse |
Vanessa Hull, Yan Wang, Travis Burns, Sheng Zhang, Sarah Sternbach, Jennifer McDonough, Fuzheng Guo, David Pleasur. Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice. Annals of neurology. vol 87. issue 3. 2020-08-03. PMID:31925837. |
we now demonstrate that inhibiting naa synthesis by intracisternal administration of a locked nucleic acid antisense oligonucleotide to young-adult aspartoacylase-deficient mice reverses their pre-existing ataxia and diminishes cerebellar and thalamic vacuolation and purkinje cell dendritic atrophy. |
2020-08-03 |
2023-08-13 |
mouse |