| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jan Cendeli. Experimental neurotransplantation treatment for hereditary cerebellar ataxias. Cerebellum & ataxias. vol 3. 2016-04-06. PMID:27047666. |
the second experimental therapeutic approach for hereditary cerebellar ataxias is neurotransplantation. |
2016-04-06 |
2023-08-13 |
mouse |
| M Marek, S Paus, N Allert, B Mädler, T Klockgether, H Urbach, V A Coene. Ataxia and tremor due to lesions involving cerebellar projection pathways: a DTI tractographic study in six patients. Journal of neurology. vol 262. issue 1. 2016-04-04. PMID:25287016. |
ataxia and tremor due to lesions involving cerebellar projection pathways: a dti tractographic study in six patients. |
2016-04-04 |
2023-08-13 |
human |
| M Marek, S Paus, N Allert, B Mädler, T Klockgether, H Urbach, V A Coene. Ataxia and tremor due to lesions involving cerebellar projection pathways: a DTI tractographic study in six patients. Journal of neurology. vol 262. issue 1. 2016-04-04. PMID:25287016. |
it is suspected that ataxia in these cases is due to damage of efferent or afferent pathways of the cerebellum. |
2016-04-04 |
2023-08-13 |
human |
| M Marek, S Paus, N Allert, B Mädler, T Klockgether, H Urbach, V A Coene. Ataxia and tremor due to lesions involving cerebellar projection pathways: a DTI tractographic study in six patients. Journal of neurology. vol 262. issue 1. 2016-04-04. PMID:25287016. |
we used deterministic diffusion tensor magnetic resonance imaging (dti) tractography to study the anatomical relationship between lesions causing ataxia and efferent cerebellar pathways. |
2016-04-04 |
2023-08-13 |
human |
| Wladimir Bocca Vieira de Rezende Pinto, José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Marcus Vinícius Cristino de Albuquerque, Orlando Graziani Povoas Barsottin. Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition. Arquivos de neuro-psiquiatria. vol 73. issue 10. 2016-03-22. PMID:26291991. |
cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation. |
2016-03-22 |
2023-08-13 |
Not clear |
| Wolfgang M Schmidt, S Lane Rutledge, Rebecca Schüle, Benjamin Mayerhofer, Stephan Züchner, Eugen Boltshauser, Reginald E Bittne. Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. American journal of human genetics. vol 97. issue 6. 2016-03-22. PMID:26581903. |
disruptive scyl1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia. |
2016-03-22 |
2023-08-13 |
mouse |
| Wolfgang M Schmidt, S Lane Rutledge, Rebecca Schüle, Benjamin Mayerhofer, Stephan Züchner, Eugen Boltshauser, Reginald E Bittne. Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. American journal of human genetics. vol 97. issue 6. 2016-03-22. PMID:26581903. |
hereditary ataxias comprise a group of genetically heterogeneous disorders characterized by clinically variable cerebellar dysfunction and accompanied by involvement of other organ systems. |
2016-03-22 |
2023-08-13 |
mouse |
| Jessica M Y Ng, Daniel Martinez, Eric D Marsh, Zhe Zhang, Eric Rappaport, Mariarita Santi, Tom Curra. Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53. Cancer research. vol 75. issue 21. 2016-02-25. PMID:26363008. |
notably, these double mutants exhibited at/rt development, associated with an earlier failure in granule neuron migration in the cerebellum, reduced neuronal projections in the hippocampus, degeneration of the corpus callosum, and ataxia and seizures. |
2016-02-25 |
2023-08-13 |
mouse |
| Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Philippe Lory, Giovanni Stevani. A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. American journal of human genetics. vol 97. issue 5. 2016-02-25. PMID:26456284. |
hereditary cerebellar ataxias (cas) are neurodegenerative disorders clinically characterized by a cerebellar syndrome, often accompanied by other neurological or non-neurological signs. |
2016-02-25 |
2023-08-13 |
human |
| Myriam Srour, Fadi F Hamdan, Dianalee McKnight, Erica Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne-Laporte, Luis H Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean-Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet-Bianco, Jean-François Soucy, Anne-Marie Laberge, Catalina Maftei, Kym Boycott, Bernard Brais, Renée-Myriam Boucher, Guy A Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K Kukolich, Stavit Shalev, Jacques L Michau. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. American journal of human genetics. vol 97. issue 5. 2016-02-25. PMID:26477546. |
joubert syndrome (jbts) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. |
2016-02-25 |
2023-08-13 |
human |
| Irene Pulido-Valdeolivas, David Gómez-Andrés, Irene Sanz-Gallego, Estrella Rausell, Javier Arp. Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit. Cerebellum & ataxias. vol 3. 2016-02-24. PMID:26909158. |
as for other cerebellar diseases, the severity of this type of ataxia can be assessed with the scale for assessment and rating of ataxia (sara) which gives a total score that reflects functional impairment out of 8 cerebellar function tests. |
2016-02-24 |
2023-08-13 |
Not clear |
| Ludger Schöls, Matthias Reimold, Kay Seidel, Christoph Globas, Kathrin Brockmann, Till Karsten Hauser, Georg Auburger, Katrin Bürk, Wilfred den Dunnen, Gerald Reischl, Horst-Werner Korf, Ewout R Brunt, Udo Rü. No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra. Brain : a journal of neurology. vol 138. issue Pt 11. 2016-02-09. PMID:26362908. |
see klockgether (doi:10.1093/awv253) for a scientific commentary on this article.the spinocerebellar ataxias types 2 (sca2) and 3 (sca3) are autosomal dominantly inherited cerebellar ataxias which are caused by cag trinucleotide repeat expansions in the coding regions of the disease-specific genes. |
2016-02-09 |
2023-08-13 |
Not clear |
| Robert S Raike, Ellen J Hess, H A Jinna. Dystonia and cerebellar degeneration in the leaner mouse mutant. Brain research. vol 1611. 2016-02-08. PMID:25791619. |
cerebellar degeneration is traditionally associated with ataxia. |
2016-02-08 |
2023-08-13 |
mouse |
| Robert S Raike, Ellen J Hess, H A Jinna. Dystonia and cerebellar degeneration in the leaner mouse mutant. Brain research. vol 1611. 2016-02-08. PMID:25791619. |
yet, there are examples of both ataxia and dystonia occurring in individuals with cerebellar degeneration. |
2016-02-08 |
2023-08-13 |
mouse |
| Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Mitsuru Sanada, Koji Fujita, Toshitaka Kawarai, Hideo Mure, Ryoma Morigaki, Satoshi Goto, Shigeo Murayama, Yuishin Izumi, Ryuji Kaj. Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy. Neurology. vol 85. issue 17. 2016-02-01. PMID:26408497. |
autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy. |
2016-02-01 |
2023-08-13 |
Not clear |
| Shannon D Shields, Richard P Butt, Sulayman D Dib-Hajj, Stephen G Waxma. Oral administration of PF-01247324, a subtype-selective Nav1.8 blocker, reverses cerebellar deficits in a mouse model of multiple sclerosis. PloS one. vol 10. issue 3. 2016-01-14. PMID:25747279. |
we previously showed that sodium channel nav1.8, although normally restricted to peripheral somatosensory neurons, is upregulated in the cerebellum in ms, and that nav1.8 expression is linked to ataxia and ms-like symptoms in mice. |
2016-01-14 |
2023-08-13 |
mouse |
| Björn Kowalewski, Peter Heimann, Theresa Ortkras, Renate Lüllmann-Rauch, Tomo Sawada, Steven U Walkley, Thomas Dierks, Markus Damm. Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). Human molecular genetics. vol 24. issue 7. 2016-01-13. PMID:25452429. |
here we show that arsg ko mice share common neuropathological findings with other sanfilippo syndrome models and patients, but they can be clearly distinguished by the limitation of most phenotypic alterations to the cerebellum, presenting with ataxia as the major neurological finding. |
2016-01-13 |
2023-08-13 |
mouse |
| Robert Jeen-Chen Chen, Hsin-Hua Chou, Kuei-Ton Tsai, Ta-Chung Shen, Chin-Yuan H. Cardiac Myxoma With Unusual Obstructive and Embolic Presentations: Concurrent Stroke and Angiography-Negative Myocardial Infarction--A Case Report. Medicine. vol 94. issue 38. 2016-01-08. PMID:26402823. |
ataxia was noted in her postoperative course and multiple small cerebellar infarcts were found on magnetic resonance imaging. |
2016-01-08 |
2023-08-13 |
Not clear |
| Sophie Thomas, Vincent Cantagrel, Laura Mariani, Valérie Serre, Ji-Eun Lee, Nadia Elkhartoufi, Pascale de Lonlay, Isabelle Desguerre, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Michel Vekemans, Steven N Lisgo, Tamara Caspary, Joseph Gleeson, Tania Attié-Bitac. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. European journal of human genetics : EJHG. vol 23. issue 5. 2016-01-06. PMID:25138100. |
js patients display multiple symptoms characterized by ataxia due to the cerebellar vermis hypoplasia, and that can also include ocular abnormalities, renal cysts, liver fibrosis or polydactyly. |
2016-01-06 |
2023-08-13 |
mouse |
| Filipa Bernardino, Kai Rentmeister, Martin J Schmidt, Andreas Bruehschwein, Kaspar Matiasek, Lara A Matiasek, Alexander Lauda, Heinz A Schoon, Andrea Fische. Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study. PloS one. vol 10. issue 2. 2016-01-04. PMID:25668516. |
inferior cerebellar hypoplasia resembling a dandy-walker-like malformation in purebred eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study. |
2016-01-04 |
2023-08-13 |
Not clear |