| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Dur. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genetics in medicine : official journal of the American College of Medical Genetics. vol 23. issue 10. 2021-10-04. PMID:33353973. |
correction: clinical, neuropathological, and genetic characterization of stub1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. |
2021-10-04 |
2023-08-13 |
Not clear |
| Laurence Gauquelin, Taila Hartley, Mark Tarnopolsky, David A Dyment, Bernard Brais, Michael T Geraghty, Martine Tétreault, Sohnee Ahmed, Samantha Rojas, Karine Choquet, Jacek Majewski, François Bernier, Allan Micheil Innes, Guy Rouleau, Oksana Suchowersky, Kym M Boycott, Grace Yoo. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement disorders clinical practice. vol 7. issue 8. 2021-09-30. PMID:33163565. |
channelopathies are a frequent cause of genetic ataxias associated with cerebellar atrophy. |
2021-09-30 |
2023-08-13 |
Not clear |
| Laurence Gauquelin, Taila Hartley, Mark Tarnopolsky, David A Dyment, Bernard Brais, Michael T Geraghty, Martine Tétreault, Sohnee Ahmed, Samantha Rojas, Karine Choquet, Jacek Majewski, François Bernier, Allan Micheil Innes, Guy Rouleau, Oksana Suchowersky, Kym M Boycott, Grace Yoo. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement disorders clinical practice. vol 7. issue 8. 2021-09-30. PMID:33163565. |
genetic ataxias associated with cerebellar atrophy are a heterogeneous group of conditions, rendering the approach to diagnosis challenging. |
2021-09-30 |
2023-08-13 |
Not clear |
| Ana Victoria Marco Hernández, Alfonso Caro, Alejandro Montoya Filardi, Miguel Tomás Vila, Sandra Monfort, Beatriz Beseler Soto, Juan José Nieto-Barceló, Francisco Martíne. Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability. American journal of medical genetics. Part A. 2021-09-30. PMID:34590414. |
they range from (1) severe developmental encephalopathy with ataxia and a mild cerebellar atrophy, without epilepsy; (2) moderate intellectual disability, severe language delay, ataxia and tremor; (3) normal intelligence, chronic migraine, and generalized tonic-clonic seizures. |
2021-09-30 |
2023-08-13 |
Not clear |
| Sirio Cocozza, Giuseppe Pontillo, Giovanna De Michele, Martina Di Stasi, Elvira Guerriero, Teresa Perillo, Chiara Pane, Anna De Rosa, Lorenzo Ugga, Arturo Brunett. Conventional MRI findings in hereditary degenerative ataxias: a pictorial review. Neuroradiology. vol 63. issue 7. 2021-09-29. PMID:33733696. |
cerebellar ataxias are a large and heterogeneous group of disorders. |
2021-09-29 |
2023-08-13 |
Not clear |
| Shweta Prasad, Vikram V Holla, Pramod Kumar Pa. Atypical Phenotype in a Spinocerebellar Ataxia Type 2 Kindred. Tremor and other hyperkinetic movements (New York, N.Y.). vol 11. 2021-09-23. PMID:34430069. |
non-ataxic manifestations in autosomal dominant cerebellar ataxias are variable and influenced by cag repeat length and age at onset. |
2021-09-23 |
2023-08-13 |
Not clear |
| Christopher A Turski, Gabrielle N Turski, Jennifer Faber, Stefan J Teipel, Frank G Holz, Thomas Klockgether, Robert P Finge. Microvascular Breakdown Due to Retinal Neurodegeneration in Ataxias. Movement disorders : official journal of the Movement Disorder Society. 2021-09-17. PMID:34533237. |
neurodegenerative ataxias are devastating disorders of the cerebellum and spinal cord, accompanied by death of retinal ganglion cells, leading to relentlessly progressive decline of motor coordination and permanent disability. |
2021-09-17 |
2023-08-13 |
Not clear |
| Jianping Hu, Xinyuan Chen, Mengcheng Li, Hao-Ling Xu, Ziqiang Huang, Naping Chen, Yuqing Tu, Qunlin Chen, Shirui Gan, Dairong Ca. Pattern of cerebellar grey matter loss associated with ataxia severity in spinocerebellar ataxias type 3: a multi-voxel pattern analysis. Brain imaging and behavior. 2021-08-21. PMID:34417969. |
pattern of cerebellar grey matter loss associated with ataxia severity in spinocerebellar ataxias type 3: a multi-voxel pattern analysis. |
2021-08-21 |
2023-08-13 |
human |
| Jianping Hu, Xinyuan Chen, Mengcheng Li, Hao-Ling Xu, Ziqiang Huang, Naping Chen, Yuqing Tu, Qunlin Chen, Shirui Gan, Dairong Ca. Pattern of cerebellar grey matter loss associated with ataxia severity in spinocerebellar ataxias type 3: a multi-voxel pattern analysis. Brain imaging and behavior. 2021-08-21. PMID:34417969. |
previous neuroimaging studies have indicated ataxia severity associated with cerebellar atrophy using univariate methods. |
2021-08-21 |
2023-08-13 |
human |
| Jianping Hu, Xinyuan Chen, Mengcheng Li, Hao-Ling Xu, Ziqiang Huang, Naping Chen, Yuqing Tu, Qunlin Chen, Shirui Gan, Dairong Ca. Pattern of cerebellar grey matter loss associated with ataxia severity in spinocerebellar ataxias type 3: a multi-voxel pattern analysis. Brain imaging and behavior. 2021-08-21. PMID:34417969. |
however, whether cerebellar atrophy patterns can be used to quantitatively predict ataxia severity in sca3 patients at the individual level remains largely unexplored. |
2021-08-21 |
2023-08-13 |
human |
| Jianping Hu, Xinyuan Chen, Mengcheng Li, Hao-Ling Xu, Ziqiang Huang, Naping Chen, Yuqing Tu, Qunlin Chen, Shirui Gan, Dairong Ca. Pattern of cerebellar grey matter loss associated with ataxia severity in spinocerebellar ataxias type 3: a multi-voxel pattern analysis. Brain imaging and behavior. 2021-08-21. PMID:34417969. |
we investigated the association between the pattern of cerebellar grey matter (gm) loss and ataxia assessment in sca3 by using a multivariate machine learning technique. |
2021-08-21 |
2023-08-13 |
human |
| Jianping Hu, Xinyuan Chen, Mengcheng Li, Hao-Ling Xu, Ziqiang Huang, Naping Chen, Yuqing Tu, Qunlin Chen, Shirui Gan, Dairong Ca. Pattern of cerebellar grey matter loss associated with ataxia severity in spinocerebellar ataxias type 3: a multi-voxel pattern analysis. Brain imaging and behavior. 2021-08-21. PMID:34417969. |
these results provide proof-of-concept that ataxia severity in sca3 patients can be predicted by the alteration pattern of cerebellar gm using multi-voxel pattern analysis. |
2021-08-21 |
2023-08-13 |
human |
| John M Ringman, Yuchuan Qiao, Alexander Garbin, Beth E Fisher, Brent Fogel, Kecia Watari Knoell, Helena C Chui, Yonggang Shi, Jessica E Rexac. Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the Neurocase. vol 26. issue 5. 2021-08-20. PMID:32893728. |
emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the we report a patient with autism-like deficits in emotional connectedness, executive dysfunction, and ataxia beginning at age 39. he had compound heterozygous variants in spg7 (a510v and 1552+1 g>t substitutions), mutation of which is classically associated with spastic paraparesis. diffusion mri demonstrated abnormalities in the cerebellar outflow tracts. transcranial magnetic stimulation showed a prolonged cortical silent period representing exaggerated cortical inhibition, as previously described with pure cerebellar degeneration. the acquired cerebellar cognitive affective syndrome in association with specific anatomic and neurophysiological abnormalities in the cerebellum expand the spectrum of spg7-related neurodegeneration and support a role for cerebellar output in socio-emotional behavior. |
2021-08-20 |
2023-08-13 |
Not clear |
| Jeremy D Schmahman. Emotional disorders and the cerebellum: Neurobiological substrates, neuropsychiatry, and therapeutic implications. Handbook of clinical neurology. vol 183. 2021-08-17. PMID:34389114. |
it opened new avenues of investigation into higher-order deficits that accompany the ataxias and other cerebellar diseases, as well as the contribution of cerebellar dysfunction to neuropsychiatric and neurocognitive disorders. |
2021-08-17 |
2023-08-13 |
Not clear |
| Anton N Shuvaev, Olga S Belozor, Oleg I Mozhei, Elena D Khilazheva, Andrey N Shuvaev, Yana V Fritsler, S Kasparo. Protective Effect of Memantine on Bergmann Glia and Purkinje Cells Morphology in Optogenetic Model of Neurodegeneration in Mice. International journal of molecular sciences. vol 22. issue 15. 2021-08-16. PMID:34360588. |
these results identify memantine as potential neuroprotective therapeutics for cerebellar ataxias. |
2021-08-16 |
2023-08-13 |
mouse |
| Solveig Montaut, Nadège Diedhiou, Pauline Fahrer, Cécilia Marelli, Benoit Lhermitte, Laura Robelin, Marie Claire Vincent, Lucas Corti, Guillaume Taieb, Odile Gebus, Gabrielle Rudolf, Julien Tarabeux, Nicolas Dondaine, Matthieu Canuet, Marilyne Almeras, Mehdi Benkirane, Lise Larrieu, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Andoni Echaniz-Laguna, Cécile Cauquil, Béatrice Lannes, Jamel Chelly, Mathieu Anheim, Hélène Puccio, Christine Tranchan. Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort. Journal of neurology. vol 268. issue 9. 2021-08-13. PMID:33666721. |
cerebellar ataxia with neuropathy and vestibular areflexia syndrome (canvas) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic aaggg(n) biallelic expansion repeat in the rfc1 gene. |
2021-08-13 |
2023-08-13 |
Not clear |
| Solveig Montaut, Nadège Diedhiou, Pauline Fahrer, Cécilia Marelli, Benoit Lhermitte, Laura Robelin, Marie Claire Vincent, Lucas Corti, Guillaume Taieb, Odile Gebus, Gabrielle Rudolf, Julien Tarabeux, Nicolas Dondaine, Matthieu Canuet, Marilyne Almeras, Mehdi Benkirane, Lise Larrieu, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Andoni Echaniz-Laguna, Cécile Cauquil, Béatrice Lannes, Jamel Chelly, Mathieu Anheim, Hélène Puccio, Christine Tranchan. Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort. Journal of neurology. vol 268. issue 9. 2021-08-13. PMID:33666721. |
our objective was to assess its prevalence in a french cohort of patients with idiopathic sporadic late-onset ataxia (iloa), idiopathic early-onset ataxia (ieoa), or multiple system atrophy of cerebellar type (msa-c). |
2021-08-13 |
2023-08-13 |
Not clear |
| Leslie E Sanderson, Kristina Lanko, Maysoon Alsagob, Rawan Almass, Nada Al-Ahmadi, Maryam Najafi, Mohammad A Al-Muhaizea, Hamad Alzaidan, Hesham AlDhalaan, Elena Perenthaler, Herma C van der Linde, Anita Nikoncuk, Nikolas A Kühn, Dinu Antony, Tarek Mustafa Owaidah, Salmo Raskin, Luana Gabriela Dalla Rosa Vieira, Romulo Mombach, Najmeh Ahangari, Tainá Regina Damaceno Silveira, Najim Ameziane, Arndt Rolfs, Aljohara Alharbi, Raghda M Sabbagh, Khalid AlAhmadi, Bashayer Alawam, Hazem Ghebeh, Aljouhra AlHargan, Anoud A Albader, Faisal S Binhumaid, Ewa Goljan, Dorota Monies, Osama M Mustafa, Mazhor Aldosary, Albandary AlBakheet, Banan Alyounes, Faten Almutairi, Ali Al-Odaib, Durdane Bekar Aksoy, A Nazli Basak, Robin Palvadeau, Daniah Trabzuni, Jill A Rosenfeld, Ehsan Ghayoor Karimiani, Brian F Meyer, Bedri Karakas, Futwan Al-Mohanna, Stefan T Arold, Dilek Colak, Reza Maroofian, Henry Houlden, Aida M Bertoli-Avella, Miriam Schmidts, Tahsin Stefan Barakat, Tjakko J van Ham, Namik Kay. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain : a journal of neurology. vol 144. issue 3. 2021-08-13. PMID:33764426. |
all affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. |
2021-08-13 |
2023-08-13 |
human |
| Abel Dantas Belém, Thaís de Maria Frota Vasconcelos, Rafael César Dos Anjos de Paula, Francisco Bruno Santana da Costa, Pedro Gustavo Barros Rodrigues, Isabelle de Sousa Pereira, Paulo Roberto de Arruda Tavares, Gabriela Studart Galdino, Daniel Aguiar Dias, Carolina de Figueiredo Santos, Manoel Alves Sobreira-Neto, Pedro Braga-Neto, Paulo Ribeiro Nobreg. Stiff-Eye Syndrome-Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report. Brain sciences. vol 11. issue 7. 2021-08-09. PMID:34356166. |
anti-gad ataxia is one of the most common forms of immune-mediated cerebellar ataxias. |
2021-08-09 |
2023-08-13 |
Not clear |
| Cristina Saade Jaques, Marcio Luiz Escorcio-Bezerra, José Luiz Pedroso, Orlando Graziani Povoas Barsottin. The Intersection Between Cerebellar Ataxia and Neuropathy: a Proposed Classification and a Diagnostic Approach. Cerebellum (London, England). 2021-08-09. PMID:34368935. |
neuropathy is a common associated feature of different types of genetic or sporadic cerebellar ataxias. |
2021-08-09 |
2023-08-13 |
Not clear |