| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Takamasa Kamei, Atsushi Tamada, Toshiya Kimura, Akira Kakizuka, Akio Asai, Keiko Mugurum. Survival and process outgrowth of human iPSC-derived cells expressing Purkinje cell markers in a mouse model for spinocerebellar degenerative disease. Experimental neurology. 2023-08-27. PMID:37634697. |
the loss or dysfunction of purkinje cells due to cerebellar atrophy leads to severe ataxia. |
2023-08-27 |
2023-09-07 |
mouse |
| Mario Manto, Hiroshi Mitom. Cerebellum: From the identification of the cerebellar motor syndrome to the internal models. Handbook of clinical neurology. vol 196. 2023-08-24. PMID:37620068. |
the three cornerstones of clinical ataxia have emerged from studies on connectional anatomy and from clinical/neuropsychological observations, leading to the definition of clinical syndromes encountered in daily practice: (a) the cerebellar motor syndrome (cms), (b) the vestibulocerebellar syndrome (vcs), and (c) the cerebellar cognitive affective syndrome/schmahmann syndrome (ccas/ss). |
2023-08-24 |
2023-09-07 |
human |
| Roberto Erro, Francesca Magrinelli, Kailash P Bhati. Paroxysmal movement disorders: Paroxysmal dyskinesia and episodic ataxia. Handbook of clinical neurology. vol 196. 2023-08-24. PMID:37620078. |
paroxysmal movement disorders have traditionally been classified into paroxysmal dyskinesia (pxd), which consists in attacks of involuntary movements (mainly dystonia and/or chorea) without loss of consciousness, and episodic ataxia (ea), which features spells of cerebellar dysfunction with or without interictal neurological manifestations. |
2023-08-24 |
2023-09-07 |
Not clear |
| Carles Gaig, Francesc Grau. Motor symptoms in nonparaneoplastic CNS disorders associated with neural antibodies. Handbook of clinical neurology. vol 196. 2023-08-24. PMID:37620074. |
these cns disorders can be classified into five groups: (1) autoimmune encephalitis with antibodies against synaptic receptors, (2) cerebellar ataxias associated with neuronal antibodies that mostly target intracellular antigens. |
2023-08-24 |
2023-09-07 |
Not clear |
| Nihal Almenabawy, Manal Ramadan, Mona Kamel, Iman G Mahmoud, Fawzia Amer, Yara Shaheen, Walaa Elnaggar, Laila Seli. Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients. American journal of medical genetics. Part A. vol 191. issue 9. 2023-08-19. PMID:37596900. |
ataxia was reported in a patient with mps iiic, and cerebellar atrophy in a patient with mps iiia. |
2023-08-19 |
2023-09-07 |
Not clear |
| Mario Manto, Mariano Serrao, Stefano Filippo Castiglia, Dagmar Timmann, Elinor Tzvi-Minker, Ming-Kai Pan, Sheng-Han Kuo, Yoshikazu Ugaw. Neurophysiology of cerebellar ataxias and gait disorders. Clinical neurophysiology practice. vol 8. 2023-08-18. PMID:37593693. |
neurophysiology of cerebellar ataxias and gait disorders. |
2023-08-18 |
2023-09-07 |
Not clear |
| Yeboah Kofi Gyening, Keren Boris, Mignot Cyril, Richard S Brush, Marie-Cécile Nassogne, Martin-Paul Agbag. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. Acta neuropathologica communications. vol 11. issue 1. 2023-08-11. PMID:37568198. |
spinocerebellar ataxia 34 (sca34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused by mutations in the elongation of very long chain fatty acid-4 (elovl4) gene. |
2023-08-11 |
2023-08-16 |
Not clear |
| Miriam I Rosenberg, Erez Greenstein, Martin Buchkovich, Ayelet Peres, Eric Santoni-Rugiu, Lei Yang, Martin Mikl, Zalman Vaksman, David L Gibbs, Dan Reshef, Amy Salovin, Meredith S Irwin, Arlene Naranjo, Igor Ulitsky, Pedro A de Alarcon, Katherine K Matthay, Victor Weigman, Gur Yaari, Jessica A Panzer, Nir Friedman, John M Mari. Polyclonal lymphoid expansion drives paraneoplastic autoimmunity in neuroblastoma. Cell reports. vol 42. issue 8. 2023-08-04. PMID:37537844. |
two percent of children with neuroblastoma develop opsoclonus myoclonus ataxia syndrome (omas), a paraneoplastic disease characterized by cerebellar and brainstem-directed autoimmunity but typically with outstanding cancer-related outcomes. |
2023-08-04 |
2023-08-14 |
human |
| Roderick P P W M Maa. Preparing for Disease-Modification Trials in Degenerative Cerebellar Ataxias: Which Endpoints to Choose? Movement disorders : official journal of the Movement Disorder Society. vol 38. issue 6. 2023-07-21. PMID:37475615. |
preparing for disease-modification trials in degenerative cerebellar ataxias: which endpoints to choose? |
2023-07-21 |
2023-08-14 |
Not clear |
| Ilse Eidhof, Alina Krebbers, Bart van de Warrenburg, Annette Schenc. Ataxia-associated DNA repair genes protect the Frontiers in neural circuits. vol 17. 2023-07-21. PMID:37476399. |
autosomal recessive cerebellar ataxias (arcas) provide a valuable entry point into how interactions between genetic programs maintain cerebellar motor circuits. |
2023-07-21 |
2023-08-14 |
Not clear |
| Giulia Coarelli, Marie Coutelier, Alexandra Dur. Autosomal dominant cerebellar ataxias: new genes and progress towards treatments. The Lancet. Neurology. vol 22. issue 8. 2023-07-21. PMID:37479376. |
autosomal dominant cerebellar ataxias: new genes and progress towards treatments. |
2023-07-21 |
2023-08-14 |
Not clear |
| Dang Minh Tran, Nozomu Yoshioka, Norihisa Bizen, Yukiko Mori-Ochiai, Masato Yano, Shogo Yanai, Junya Hasegawa, Satoshi Miyashita, Mikio Hoshino, Junko Sasaki, Takehiko Sasaki, Hirohide Takebayash. Attenuated cerebellar phenotypes in Inpp4a truncation mutants with preserved phosphatase activity. Disease models & mechanisms. 2023-07-07. PMID:37415561. |
several neurological diseases with diverse phenotypes, such as ataxia with cerebellar atrophy or intellectual disability without brain malformation, are caused by mutations in inpp4a, which encodes a phosphoinositide phosphatase. |
2023-07-07 |
2023-08-14 |
mouse |
| Anthony J Linares, Brent L Foge. Late-onset hereditary ataxias with dementia. Current opinion in neurology. 2023-06-29. PMID:37382141. |
late-onset genetic cerebellar ataxias are clinically heterogenous with variable phenotypes. |
2023-06-29 |
2023-08-14 |
Not clear |
| Haoran Huang, Vikram G Shakkotta. Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia. Life (Basel, Switzerland). vol 13. issue 6. 2023-06-28. PMID:37374132. |
in this review, we propose that perturbations in cerebellar purkinje neuron intrinsic membrane excitability, a result of ion channel dysregulation, is a common pathophysiologic mechanism that drives motor impairment and vulnerability to degeneration in cerebellar ataxias of widely differing genetic etiologies. |
2023-06-28 |
2023-08-14 |
Not clear |
| Abulkalam A Sirajwala, Shahin Khan, Vaishnavi M Rathod, Vishwa C Gevariya, Jay R Jansari, Yash M Pate. Ataxia-Telangiectasia: A Case Report and a Brief Review. Cureus. vol 15. issue 5. 2023-06-23. PMID:37351254. |
ataxia-telangiectasia (a-t) is a rare inherited syndrome that primarily presents as ataxia due to cerebellar involvement and dilated capillaries in the oculocutaneous region. |
2023-06-23 |
2023-08-14 |
Not clear |
| Laura Friedman, Meagan Lauber, Roozbeh Behroozmand, Daniel Fogerty, Dariusz Kunecki, Elizabeth Berry-Kravis, Jessica Kluse. Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control. Experimental brain research. 2023-06-22. PMID:37347418. |
women with the fmr1 premutation are susceptible to motor involvement related to atypical cerebellar function, including risk for developing fragile x tremor ataxia syndrome. |
2023-06-22 |
2023-08-14 |
human |
| Ilenia Libri, Valentina Cantoni, Alberto Benussi, Jasmine Rivolta, Camilla Ferrari, Roberto Fancellu, Matthis Synofzik, Antonella Alberici, Alessandro Padovani, Barbara Borron. Comparing Cerebellar tDCS and Cerebellar tACS in Neurodegenerative Ataxias Using Wearable Sensors: A Randomized, Double-Blind, Sham-Controlled, Triple-Crossover Trial. Cerebellum (London, England). 2023-06-22. PMID:37349632. |
comparing cerebellar tdcs and cerebellar tacs in neurodegenerative ataxias using wearable sensors: a randomized, double-blind, sham-controlled, triple-crossover trial. |
2023-06-22 |
2023-08-14 |
human |
| Ilenia Libri, Valentina Cantoni, Alberto Benussi, Jasmine Rivolta, Camilla Ferrari, Roberto Fancellu, Matthis Synofzik, Antonella Alberici, Alessandro Padovani, Barbara Borron. Comparing Cerebellar tDCS and Cerebellar tACS in Neurodegenerative Ataxias Using Wearable Sensors: A Randomized, Double-Blind, Sham-Controlled, Triple-Crossover Trial. Cerebellum (London, England). 2023-06-22. PMID:37349632. |
cerebellar transcranial direct current stimulation (tdcs) represents a promising therapeutic approach for both motor and cognitive symptoms in neurodegenerative ataxias. |
2023-06-22 |
2023-08-14 |
human |
| Ilenia Libri, Valentina Cantoni, Alberto Benussi, Jasmine Rivolta, Camilla Ferrari, Roberto Fancellu, Matthis Synofzik, Antonella Alberici, Alessandro Padovani, Barbara Borron. Comparing Cerebellar tDCS and Cerebellar tACS in Neurodegenerative Ataxias Using Wearable Sensors: A Randomized, Double-Blind, Sham-Controlled, Triple-Crossover Trial. Cerebellum (London, England). 2023-06-22. PMID:37349632. |
to compare the effectiveness of cerebellar tdcs vs. cerebellar tacs in patients with neurodegenerative ataxia, we performed a double-blind, randomized, sham controlled, triple cross-over trial with cerebellar tdcs, cerebellar tacs or sham stimulation in twenty-six participants with neurodegenerative ataxia. |
2023-06-22 |
2023-08-14 |
human |
| Kimberley Stee, Mario Van Poucke, Mark Lowrie, Luc Van Ham, Luc Peelman, Natasha Olby, Sofie F M Bhatt. Phenotypic and genetic aspects of hereditary ataxia in dogs. Journal of veterinary internal medicine. 2023-06-21. PMID:37341581. |
hereditary ataxias are a large group of neurodegenerative diseases that have cerebellar or spinocerebellar dysfunction as core feature, occurring as an isolated sign or as part of a syndrome. |
2023-06-21 |
2023-08-14 |
Not clear |