| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Miryam Carecchio, Michele Mainardi, Giulia Bonat. The clinical and genetic spectrum of primary familial brain calcification. Journal of neurology. 2023-03-02. PMID:36862146. |
primary familial brain calcification (pfbc), formerly known as fahr's disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. |
2023-03-02 |
2023-08-14 |
human |
| Ida Margrethe Uggerud, Torbjørn Kråkenes, Hirokazu Hirai, Christian Alexander Vedeler, Manja Schuber. Development and Optimization of a Multilayer Rat Purkinje Neuron Culture. Cerebellum (London, England). 2023-01-10. PMID:36626013. |
elucidation of the mechanisms involved in neurodegenerative diseases of the cerebellum has been hampered by the lack of robust single cell models to study purkinje neurons and replicate at the same time in vivo features. |
2023-01-10 |
2023-08-14 |
rat |
| Chisato Kinoshita, Noriko Kubota, Koji Aoyam. Glutathione Depletion and MicroRNA Dysregulation in Multiple System Atrophy: A Review. International journal of molecular sciences. vol 23. issue 23. 2022-12-11. PMID:36499400. |
multiple system atrophy (msa) is a rare neurodegenerative disease characterized by parkinsonism, cerebellar impairment, and autonomic failure. |
2022-12-11 |
2023-08-14 |
Not clear |
| Ella Borgenheimer, Katherine Hamel, Carrie Sheeler, Francisco Labrada Moncada, Kaelin Sbrocco, Ying Zhang, Marija Cvetanovi. Single nuclei RNA sequencing investigation of the Purkinje cell and glial changes in the cerebellum of transgenic Spinocerebellar ataxia type 1 mice. Frontiers in cellular neuroscience. vol 16. 2022-12-02. PMID:36457352. |
spinocerebellar ataxia type 1 (sca1) is a progressive neurodegenerative disease characterized by a severe degeneration of cerebellar purkinje cells (pcs) and cerebellar gliosis. |
2022-12-02 |
2023-08-14 |
mouse |
| Robin Cabeza-Ruiz, Luis Velázquez-Pérez, Roberto Pérez-Rodríguez, Kathrin Reet. ConvNets for automatic detection of polyglutamine SCAs from brain MRIs: state of the art applications. Medical & biological engineering & computing. 2022-11-17. PMID:36385616. |
polyglutamine spinocerebellar ataxias (polyq scas) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by loss of balance and motor coordination due to dysfunction of the cerebellum and its connections. |
2022-11-17 |
2023-08-14 |
Not clear |
| Catarina Osório, Joshua J White, Heiling Lu, Gerrit C Beekhof, Francesca Romana Fiocchi, Charlotte A Andriessen, Stephanie Dijkhuizen, Laura Post, Martijn Schonewill. Pre-ataxic loss of intrinsic plasticity and motor learning in a mouse model of SCA1. Brain : a journal of neurology. 2022-11-10. PMID:36352508. |
spinocerebellar ataxias are neurodegenerative diseases the hallmark symptom of which is the development of ataxia due to cerebellar dysfunction. |
2022-11-10 |
2023-08-14 |
mouse |
| Mohammed Al-Biltagi, Adel Salah Bediwy, Nermin Kamal Saee. Cough as a neurological sign: What a clinician should know. World journal of critical care medicine. vol 11. issue 3. 2022-11-04. PMID:36331984. |
cough reflex sensitivity could be increased in many neurological disorders such as brainstem space-occupying lesions, medullary lesions secondary to chiari type i malformations, tics disorders such as tourette's syndrome, somatic cough, cerebellar neurodegenerative diseases, and chronic vagal neuropathy due to allergic and non-allergic conditions. |
2022-11-04 |
2023-08-14 |
Not clear |
| Riccardo Ronco, Cecilia Perini, Riccardo Currò, Natalia Dominik, Stefano Facchini, Alice Gennari, Roberto Simone, Skye Stuart, Sara Nagy, Elisa Vegezzi, Ilaria Quartesan, Amar El-Saddig, Timothy Lavin, Arianna Tucci, Agnieszka Szymura, Luiz Eduardo Novis De Farias, Alexander Gary, Megan Delfeld, Priscilla Kandikatla, Nifang Niu, Sanjukta Tawde, Joseph Shaw, James Polke, Mary M Reilly, Nick W Wood, Emmanuele Crespan, Christopher Gomez, Jin Yun Helen Chen, Jeremy Dan Schmahmann, David Gosal, Henry Houlden, Soma Das, Andrea Cortes. Truncating Variants in Neurology. 2022-10-26. PMID:36289003. |
truncating variants in cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas) is an autosomal recessive neurodegenerative disease characterized by adult onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular impairment. |
2022-10-26 |
2023-08-14 |
Not clear |
| Libera Siciliano, Giusy Olivito, Nicole Urbini, Maria Caterina Silveri, Maria Leggi. " Biomedicines. vol 10. issue 9. 2022-09-23. PMID:36140267. |
accordingly, this study aims to investigate whether motor reserve (mr), likely to be boosted by exercise engagement in a lifetime, affects motor symptom severity, cognitive functioning, and functional brain networks in spinocerebellar ataxia type 2 (sca2)-a cerebellar neurodegenerative disease. |
2022-09-23 |
2023-08-14 |
Not clear |
| Anna A Cook, Sriram Jayabal, Jacky Sheng, Eviatar Fields, Tsz Chui Sophia Leung, Sabrina Quilez, Eileen McNicholas, Lois Lau, Shixia Huang, Alanna J Wat. Activation of TrkB-Akt signaling rescues deficits in a mouse model of SCA6. Science advances. vol 8. issue 37. 2022-09-16. PMID:36112675. |
spinocerebellar ataxia type 6 (sca6) is a neurodegenerative disease resulting in motor coordination deficits and cerebellar pathology. |
2022-09-16 |
2023-08-14 |
mouse |
| Kimberly Luttik, Leon Tejwani, Hyoungseok Ju, Terri Driessen, Cleo J L M Smeets, Chandrakanth Reddy Edamakanti, Aryaan Khan, Joy Yun, Puneet Opal, Janghoo Li. Differential effects of Wnt-β-catenin signaling in Purkinje cells and Bergmann glia in spinocerebellar ataxia type 1. Proceedings of the National Academy of Sciences of the United States of America. vol 119. issue 34. 2022-08-15. PMID:35969780. |
spinocerebellar ataxia type 1 (sca1) is a dominantly inherited neurodegenerative disease characterized by progressive ataxia and degeneration of specific neuronal populations, including purkinje cells (pcs) in the cerebellum. |
2022-08-15 |
2023-08-14 |
mouse |
| João Brás, Daniel Henriques, Ricardo Moreira, Magda M Santana, Rita Silva-Pedrosa, Diana Adão, Sandra Braz, Ana Rita Álvaro, Luís Pereira de Almeida, Liliana S Mendonç. Establishment and characterization of human pluripotent stem cells-derived brain organoids to model cerebellar diseases. Scientific reports. vol 12. issue 1. 2022-07-22. PMID:35869235. |
machado-joseph disease (mjd) is a cerebellar hereditary neurodegenerative disease, without therapeutic options able to prevent the disease progression. |
2022-07-22 |
2023-08-14 |
human |
| Giulia Lazzeri, Giulia Franco, Teresa Difonzo, Angelica Carandina, Chiara Gramegna, Maurizio Vergari, Federica Arienti, Anisa Naci, Costanza Scatà, Edoardo Monfrini, Gabriel Dias Rodrigues, Nicola Montano, Giacomo P Comi, Maria Cristina Saetti, Eleonora Tobaldini, Alessio Di Fonz. Cognitive and Autonomic Dysfunction in Multiple System Atrophy Type P and C: A Comparative Study. Frontiers in neurology. vol 13. 2022-07-05. PMID:35785342. |
multiple system atrophy (msa) is a rare neurodegenerative disease, clinically defined by a combination of autonomic dysfunction and motor involvement, that may be predominantly extrapyramidal (msa-p) or cerebellar (msa-c). |
2022-07-05 |
2023-08-14 |
Not clear |
| Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed, Rayan Abubaker, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Liena E O Elsayed, Ammar E Ahmed, Odile Boespflug-Tanguy, Imen Dorbo. Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan. Frontiers in genetics. vol 13. 2022-06-20. PMID:35719383. |
pontocerebellar hypoplasia type 10 (pch10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter changes in the brain, as shown by magnetic resonance imaging (mri). |
2022-06-20 |
2023-08-14 |
Not clear |
| b' Ikhlass Haj Salem, Marie Beaudin, Christopher J Klein, Nicolas Dupr\\xc3\\xa. Treatment and Management of Autosomal Recessive Cerebellar Ataxias: Current Advances and Future Perspectives. CNS & neurological disorders drug targets. 2022-04-20. PMID:35440322.' |
the autosomal recessive cerebellar ataxias (arcas) compose a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by prominent cerebellar ataxia, dysmetria, dysarthria, and nystagmus that are inherited in an autosomal recessive fashion. |
2022-04-20 |
2023-08-13 |
Not clear |
| Kurt A Jellinge. Heterogeneity of Multiple System Atrophy: An Update. Biomedicines. vol 10. issue 3. 2022-03-25. PMID:35327402. |
multiple system atrophy (msa) is a fatal, rapidly progressing neurodegenerative disease of uncertain etiology, clinically characterized by various combinations of levodopa unresponsive parkinsonism, cerebellar, autonomic and motor dysfunctions. |
2022-03-25 |
2023-08-13 |
Not clear |
| Li Xu, Zichen Sun, Zhiyao Xing, Yutong Liu, Hongting Zhao, Zhongmin Tang, Yu Luo, Shuangying Hao, Kuanyu L. Cur@SF NPs alleviate Friedreich's ataxia in a mouse model through synergistic iron chelation and antioxidation. Journal of nanobiotechnology. vol 20. issue 1. 2022-03-10. PMID:35264205. |
abnormal iron metabolism, mitochondrial dysfunction and the derived oxidative damage are the main pathogeneses of friedrich's ataxia (frda), a single-gene inherited recessive neurodegenerative disease characterized by progressive cerebellar and sensory ataxia. |
2022-03-10 |
2023-08-13 |
mouse |
| Ivan Ivanov, Iliyana Pacheva, Ralitsa Yordanova, Iglika Sotkova, Fani Galabova, Katerina Gaberova, Margarita Panova, Ina Gheneva, Tsvetelina Tsvetanova, Katerina Noneva, Diana Dimitrova, Stoyan Markov, Nikolay Sapundzhiev, Stoyan Bichev, Alexey Savo. Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience. CNS & neurological disorders drug targets. 2022-02-22. PMID:35189806. |
hypomyelination with atrophy of the basal ganglia and cerebellum (h-abc) is a neurodegenerative disease with neurodevelopmental delay, motor, and speech regression, pronounced extrapyramidal syndrome, and sensory deficits, due to tubb4a mutation. |
2022-02-22 |
2023-08-13 |
Not clear |
| David G Coughlin, Ian Dryden, Vanessa S Goodwill, Donald P Pizzo, Brenton Wright, Stephanie Lessig, Douglas Galasko, Ian R MacKenzie, Annie Hinike. Longstanding Multiple System Atrophy-Parkinsonism with Limbic and FTLD-type α-Synuclein Pathology. Neuropathology and applied neurobiology. 2021-11-30. PMID:34847258. |
multiple system atrophy (msa) is a sporadic neurodegenerative disease clinically marked by autonomic failure and variable degrees of parkinsonism and cerebellar ataxias. |
2021-11-30 |
2023-08-13 |
Not clear |
| Anna Niewiadomska-Cimicka, Frédéric Doussau, Jean-Baptiste Perot, Michel J Roux, Celine Keime, Antoine Hache, Françoise Piguet, Ariana Novati, Chantal Weber, Binnaz Yalcin, Hamid Meziane, Marie-France Champy, Erwan Grandgirard, Alice Karam, Nadia Messaddeq, Aurélie Eisenmann, Emmanuel Brouillet, Hoa Huu Phuc Nguyen, Julien Flament, Philippe Isope, Yvon Trottie. SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 41. issue 22. 2021-11-19. PMID:33888607. |
spinocerebellar ataxia type 7 (sca7) is an inherited neurodegenerative disease mainly characterized by motor incoordination because of progressive cerebellar degeneration. |
2021-11-19 |
2023-08-13 |
mouse |