| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
the pattern of peripheral nerve involvement and its associated clinical features can be an invaluable aspect for narrowing the etiologic diagnosis in the investigation of 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. |
second, determining the mode of inheritance is critical on cerebellar ataxias: autosomal dominant and recessive cerebellar ataxias, mitochondrial or sporadic types. |
2021-08-09 |
2023-08-13 |
Not clear |
| Marshall Lukacs, Lauren E Blizzard, Rolf W Stottman. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Human molecular genetics. vol 29. issue 7. 2021-08-04. PMID:32179897. |
the mutants show progressive decline with severe ataxia consistent with defects in cerebellar development. |
2021-08-04 |
2023-08-13 |
mouse |
| Laszlo Szpisjak, Gabor Szaraz, Andras Salamon, Viola L Nemeth, Noemi Szepfalusi, Gabor Veres, Balint Kincses, Zoltan Maroti, Tibor Kalmar, Malgorzata Rydzanicz, Rafal Ploski, Peter Klivenyi, Denes Zador. Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study. BMC neuroscience. vol 22. issue 1. 2021-07-31. PMID:33526008. |
syne1 ataxia is an autosomal recessive hereditary condition, the main characteristic features of which are gait and limb ataxia and cerebellar dysarthria. |
2021-07-31 |
2023-08-13 |
Not clear |
| Laszlo Szpisjak, Gabor Szaraz, Andras Salamon, Viola L Nemeth, Noemi Szepfalusi, Gabor Veres, Balint Kincses, Zoltan Maroti, Tibor Kalmar, Malgorzata Rydzanicz, Rafal Ploski, Peter Klivenyi, Denes Zador. Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study. BMC neuroscience. vol 22. issue 1. 2021-07-31. PMID:33526008. |
reports have revealed that the clinical phenotype of syne1 ataxia is more complex than the first published cases with pure cerebellar signs indicated. |
2021-07-31 |
2023-08-13 |
Not clear |
| Divya K P, Asha Kishor. Treatable cerebellar ataxias. Clinical parkinsonism & related disorders. vol 3. 2021-07-29. PMID:34316636. |
treatable cerebellar ataxias. |
2021-07-29 |
2023-08-13 |
Not clear |
| Miwako Yamasaki, Atsu Aiba, Masanobu Kano, Masahiko Watanab. mGluR1 signaling in cerebellar Purkinje cells: Subcellular organization and involvement in cerebellar function and disease. Neuropharmacology. vol 194. 2021-07-28. PMID:34089728. |
we also describe emerging evidence that altered mglur1 signaling in purkinje cells underlies cerebellar dysfunction in ataxias of human patients and mouse models. |
2021-07-28 |
2023-08-13 |
mouse |
| William Kristian Karlsson, Joan Lilja Sunnleyg Højgaard, Anna Vilhelmsen, Clarissa Crone, Birgit Andersen, Ian Law, Lisbeth Birk Møller, Troels Tolstrup Nielsen, Emilie Neerup Nielsen, Thomas Krag, Kirsten Svenstrup, Jørgen Erik Nielse. Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia. Cerebellum (London, England). 2021-07-28. PMID:34318393. |
we expand the list of likely pathogenic variants in syne1 ataxia with a novel homozygous truncating variant with proximity to the c-terminus and relate it to a phenotype comprising early-onset cerebellar deficits, upper and lower motor neuron involvement and cognitive deficits. |
2021-07-28 |
2023-08-13 |
Not clear |
| Andrew M Bryant, Cady Bloc. A Neuropsychological Profile for Cerebrotendinous Xanthomatosis: A Single-Case Study. Journal of the International Neuropsychological Society : JINS. vol 26. issue 4. 2021-07-27. PMID:31896378. |
cerebrotendinous xanthomatosis (ctx) belongs to a heterogeneous group of neurological disorders known as autosomal recessive cerebellar ataxias. |
2021-07-27 |
2023-08-13 |
Not clear |
| Tushar Ashok Vidhale, Hemant R Gupta, Rohan Pj, Charmi Gandh. Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type. BMJ case reports. vol 14. issue 7. 2021-07-27. PMID:34301694. |
very late-onset friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type. |
2021-07-27 |
2023-08-13 |
Not clear |
| Andreas Zwergal, Katharina Feil, Roman Schniepp, Michael Strup. Cerebellar Dizziness and Vertigo: Etiologies, Diagnostic Assessment, and Treatment. Seminars in neurology. vol 40. issue 1. 2021-07-26. PMID:31887755. |
this term summarizes a large group of disorders with chronic (degenerative, hereditary, acquired cerebellar ataxias), recurrent (episodic ataxias), or acute (stroke, inflammation) presentations. |
2021-07-26 |
2023-08-13 |
Not clear |
| Neeta Garg, Efrat Saraf Lav. Clinical and Neuroimaging Manifestations of Erdheim-Chester Disease: A Review. Journal of neuroimaging : official journal of the American Society of Neuroimaging. vol 31. issue 1. 2021-07-15. PMID:32920940. |
we report an unusual case of ecd presenting with progressive encephalopathy and ataxia along with multifocal brainstem and cerebellar lesions. |
2021-07-15 |
2023-08-13 |
Not clear |
| Giulia Messina, Sarah Sciuto, Alessandra Fontana, Filippo Greco, Claudia F Oliva, Maria Grazia Pappalardo, Annamaria Sapuppo, Pierluigi Smilari, Piero Pavone, Rosario Fot. On clinical findings of Bickerstaff's brainstem encephalitis in childhood. Journal of integrative neuroscience. vol 20. issue 2. 2021-07-14. PMID:34258953. |
bickerstaff brain encephalitis usually has a rapid and acute onset within 2-4 weeks, characterized by a typical picture of ophthalmoplegia, hyperreflexia, cerebellar symptoms as ataxia. |
2021-07-14 |
2023-08-13 |
human |
| Andreas Traschütz, Selina Reich, Astrid D Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, A Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Richard H Roxburgh, Filippo M Santorelli, Tommaso Schirinzi, Deborah A Sival, Dagmar Timmann, Stefan Vielhaber, Michael Wallner, Bart P van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Rebecca Schüle, Ludger Schöls, Matthis Synofzi. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Frontiers in neurology. vol 12. 2021-07-13. PMID:34248822. |
the arca registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias. |
2021-07-13 |
2023-08-13 |
Not clear |
| Andreas Traschütz, Selina Reich, Astrid D Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, A Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Richard H Roxburgh, Filippo M Santorelli, Tommaso Schirinzi, Deborah A Sival, Dagmar Timmann, Stefan Vielhaber, Michael Wallner, Bart P van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Rebecca Schüle, Ludger Schöls, Matthis Synofzi. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Frontiers in neurology. vol 12. 2021-07-13. PMID:34248822. |
autosomal recessive cerebellar ataxias (arcas) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. |
2021-07-13 |
2023-08-13 |
Not clear |
| M Hadjivassiliou, R A Grunewald, P D Shanmugarajah, P G Sarrigiannis, P Zis, V Skarlatou, N Hoggar. Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate. Cerebellum (London, England). vol 19. issue 5. 2021-07-09. PMID:32524518. |
despite some well-characterised entities such as paraneoplastic cerebellar degeneration where diagnostic markers exist, the majority of immune ataxias remained undiagnosed and untreated. |
2021-07-09 |
2023-08-13 |
Not clear |