| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sara Cabet, Audrey Putoux, Maryline Carneiro, Audrey Labalme, Damien Sanlaville, Laurent Guibaud, Gaetan Lesc. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset. European journal of medical genetics. vol 62. issue 10. 2020-02-11. PMID:31319223. |
the difficulties of clinical differential diagnosis between this disease and other forms of congenital ataxia and the unspecific cerebellar atrophy on mri highlight the importance of large-scale genetic investigations. |
2020-02-11 |
2023-08-13 |
Not clear |
| Maria Thereza Drumond Gama, Pedro Braga-Neto, Livia Almeida Dutra, Helena Alessi, Lilia Alves Maria, Ary Araripe Gadelha, Bruno Bertolucci Ortiz, Ilda Kunii, Silvia Regina Correia-Silva, Magnus R Dias da Silva, Patrick A Dion, Guy A Rouleau, Marcondes Cavalcante França, Orlando G P Barsottini, José Luiz Pedros. Cognitive and Psychiatric Evaluation in SYNE1 Ataxia. Cerebellum (London, England). vol 18. issue 4. 2020-01-13. PMID:31049853. |
although this is a small sample of patients, these results suggest that syne1 ataxia patients may represent a model to investigate effects of cerebellar degeneration in higher hierarchical cognitive functions. |
2020-01-13 |
2023-08-13 |
Not clear |
| R Brandsma, C C Verschuuren-Bemelmans, D Amrom, N Barisic, P Baxter, E Bertini, L Blumkin, V Brankovic-Sreckovic, O F Brouwer, K Bürk, C E Catsman-Berrevoets, D Craiu, I F M de Coo, J Gburek, C Kennedy, T J de Koning, H P H Kremer, R Kumar, A Macaya, A Micalizzi, M Mirabelli-Badenier, A Nemeth, S Nuovo, B Poll-The, T Lerman-Sagie, M Steinlin, M Synofzik, M A J Tijssen, G Vasco, M A A P Willemsen, G Zanni, E M Valente, E Boltshauser, D A Siva. A clinical diagnostic algorithm for early onset cerebellar ataxia. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 23. issue 5. 2020-01-13. PMID:31481303. |
in this overview, the childhood ataxia and cerebellar group of the european pediatric neurology society (cacg-epns) presents a diagnostic algorithm for eoac patients. |
2020-01-13 |
2023-08-13 |
Not clear |
| Ronald A M Buijsen, Lodewijk J A Toonen, Sarah L Gardiner, Willeke M C van Roon-Mo. Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 2. 2020-01-09. PMID:30607747. |
autosomal dominant cerebellar ataxias (adcas) are a group of neurodegenerative disorders characterized by degeneration of the cerebellum and its connections. |
2020-01-09 |
2023-08-13 |
Not clear |
| Giuseppe Arcuria, Christian Marcotulli, Claudio Galasso, Francesco Pierelli, Carlo Casal. 15-White Dots APP-Coo-Test: a reliable touch-screen application for assessing upper limb movement impairment in patients with cerebellar ataxias. Journal of neurology. vol 266. issue 7. 2019-12-30. PMID:30955123. |
15-white dots app-coo-test: a reliable touch-screen application for assessing upper limb movement impairment in patients with cerebellar ataxias. |
2019-12-30 |
2023-08-13 |
Not clear |
| Visou Ady, Brenda Toscano-Márquez, Moushumi Nath, Philip K Chang, Jeanette Hui, Anna Cook, François Charron, Roxanne Larivière, Bernard Brais, R Anne McKinney, Alanna J Wat. Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS. The Journal of physiology. vol 596. issue 17. 2019-12-11. PMID:29928778. |
autosomal recessive spastic ataxia of charlevoix-saguenay (arsacs) is an early-onset neurodegenerative human disease characterized in part by ataxia and purkinje cell loss in anterior cerebellar lobules. |
2019-12-11 |
2023-08-13 |
mouse |
| Katharina Feil, Ralf Strobl, Alexander Schindler, Siegbert Krafczyk, Nicolina Goldschagg, Claudia Frenzel, Miriam Glaser, Florian Schöberl, Andreas Zwergal, Michael Strup. What Is Behind Cerebellar Vertigo and Dizziness? Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30552638. |
the most common diagnoses were sporadic adult-onset degenerative ataxia in 26%; idiopathic dbn syndrome in 20%; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome in 10%; episodic ataxia type 2 in 7%; and multiple system atrophy cerebellar type in 6%. |
2019-12-06 |
2023-08-13 |
Not clear |
| Jan Cendelin, Annalisa Buffo, Hirokazu Hirai, Lorenzo Magrassi, Hiroshi Mitoma, Rachel Sherrard, Frantisek Vozeh, Mario Mant. Task Force Paper On Cerebellar Transplantation: Are We Ready to Treat Cerebellar Disorders with Cell Therapy? Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30607797. |
the highly organized anatomical structure of the cerebellum with numerous inputs/outputs, the complexity of cerebellar functions, and the large spectrum of cerebellar ataxias render therapies of cerebellar disorders highly challenging. |
2019-12-06 |
2023-08-13 |
Not clear |
| Tobias Lindig, Benjamin Bender, Vinod J Kumar, Till-Karsten Hauser, Wolfgang Grodd, Bettina Brendel, Jennifer Just, Matthis Synofzik, Uwe Klose, Klaus Scheffler, Ulrike Ernemann, Ludger Schöl. Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30771164. |
whole-brain voxel-based morphometry (vbm) studies revealed patterns of patchy atrophy within the cerebellum of friedreich's ataxia patients, missing clear clinico-anatomic correlations. |
2019-12-06 |
2023-08-13 |
human |
| Tobias Lindig, Benjamin Bender, Vinod J Kumar, Till-Karsten Hauser, Wolfgang Grodd, Bettina Brendel, Jennifer Just, Matthis Synofzik, Uwe Klose, Klaus Scheffler, Ulrike Ernemann, Ludger Schöl. Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30771164. |
to circumvent these limitations, we applied a high-resolution atlas template of the human cerebellum and brainstem (suit template) to characterize regional cerebellar atrophy in friedreich's ataxia (frda) on 3-t mri data. |
2019-12-06 |
2023-08-13 |
human |
| Olivier J Becherel, Brent L Fogel, Scott I Zeitlin, Hemamali Samaratunga, Jessica Greaney, Hayden Homer, Martin F Lavi. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30778901. |
ataxia with oculomotor apraxia type 2 (aoa2) is a rare autosomal recessive cerebellar ataxia characterized by onset between 10 and 20 years of age and a range of neurological features that include progressive cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia in a majority of patients, and elevated serum alpha-fetoprotein (afp). |
2019-12-06 |
2023-08-13 |
mouse |
| Emma M Perkins, Yvonne L Clarkson, Daumante Suminaite, Alastair R Lyndon, Kohichi Tanaka, Jeffrey D Rothstein, Paul A Skehel, David J A Wyllie, Mandy Jackso. Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells. Human molecular genetics. vol 27. issue 15. 2019-12-03. PMID:29741614. |
this expands our understanding of disease mechanisms in cerebellar ataxias and establishes eaats as targets for restoring homeostasis in a variety of neurological diseases where altered cerebellar output is now thought to play a key role in pathogenesis. |
2019-12-03 |
2023-08-13 |
mouse |
| Charles Yates, Alan Lackey, Robert Campbell, Jane McEnier. Posterior fossa pilocytic astrocytoma presenting with opisthotonus in an infant - A case report. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 68. 2019-12-02. PMID:31358429. |
while posterior fossa lesions commonly present with signs of raised intracranial pressure, or cerebellar dysfunction, this case describes the presentation of an infant with opisthotonic posturing, ataxia and autonomic dysfunction secondary to a large pilocytic astrocytoma. |
2019-12-02 |
2023-08-13 |
Not clear |
| Velioglu, Kuzeyli, Zzmenogl. Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. European journal of neurology. vol 5. issue 5. 2019-11-20. PMID:10210881. |
clinical features included ataxia of limbs, gait and stance, cerebellar oculomotor signs. |
2019-11-20 |
2023-08-12 |
Not clear |
| C J L M Smeets, D S Verbee. Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration. Biochimica et biophysica acta. vol 1842. issue 10. 2019-11-20. PMID:24726947. |
cerebellar ataxias are progressive neurodegenerative disorders characterized by atrophy of the cerebellum leading to motor dysfunction, balance problems, and limb and gait ataxia. |
2019-11-20 |
2023-08-13 |
Not clear |
| C J L M Smeets, D S Verbee. Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration. Biochimica et biophysica acta. vol 1842. issue 10. 2019-11-20. PMID:24726947. |
these include among others, the dominantly inherited spinocerebellar ataxias, recessive cerebellar ataxias such as friedreich's ataxia, and x-linked cerebellar ataxias. |
2019-11-20 |
2023-08-13 |
Not clear |
| C J L M Smeets, D S Verbee. Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration. Biochimica et biophysica acta. vol 1842. issue 10. 2019-11-20. PMID:24726947. |
since all cerebellar ataxias display considerable overlap in their disease phenotypes, common pathological pathways must underlie the selective cerebellar neurodegeneration. |
2019-11-20 |
2023-08-13 |
Not clear |
| C J L M Smeets, D S Verbee. Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration. Biochimica et biophysica acta. vol 1842. issue 10. 2019-11-20. PMID:24726947. |
in this review, we discuss the use of functional genomic approaches including whole-exome sequencing, genome-wide gene expression profiling, mirna profiling, epigenetic profiling, and genetic modifier screens to reveal the underlying pathogenesis of various cerebellar ataxias. |
2019-11-20 |
2023-08-13 |
Not clear |
| Masanobu Kano, Takaki Watanab. Type-1 metabotropic glutamate receptor signaling in cerebellar Purkinje cells in health and disease. F1000Research. vol 6. 2019-11-20. PMID:28435670. |
we also describe emerging evidence that altered mglur1 signaling in purkinje cells underlies cerebellar dysfunctions in several clinically relevant mouse models of human ataxias. |
2019-11-20 |
2023-08-13 |
mouse |
| Cyrielle Billon, Sadichha Sitaula, Thomas P Burri. Metabolic Characterization of a Novel RORα Knockout Mouse Model without Ataxia. Frontiers in endocrinology. vol 8. 2019-11-20. PMID:28744254. |
genetic deletion of the receptor yields mice with significant cerebellar developmental issues associated with severe ataxia. |
2019-11-20 |
2023-08-13 |
mouse |