All Relations between Spinocerebellar Ataxias and cerebellum

Publication Sentence Publish Date Extraction Date Species
Atsuhiko Sugiyama, Noriko Sato, Yukio Kimura, Hiroyuki Fujii, Norihide Maikusa, Yoko Shigemoto, Fumio Suzuki, Emiko Morimoto, Kyosuke Koide, Yuji Takahashi, Hiroshi Matsuda, Satoshi Kuwabar. Quantifying iron deposition in the cerebellar subtype of multiple system atrophy and spinocerebellar ataxia type 6 by quantitative susceptibility mapping. Journal of the neurological sciences. vol 407. 2020-09-16. PMID:31639532. quantifying iron deposition in the cerebellar subtype of multiple system atrophy and spinocerebellar ataxia type 6 by quantitative susceptibility mapping. 2020-09-16 2023-08-13 Not clear
Atsuhiko Sugiyama, Noriko Sato, Yukio Kimura, Hiroyuki Fujii, Norihide Maikusa, Yoko Shigemoto, Fumio Suzuki, Emiko Morimoto, Kyosuke Koide, Yuji Takahashi, Hiroshi Matsuda, Satoshi Kuwabar. Quantifying iron deposition in the cerebellar subtype of multiple system atrophy and spinocerebellar ataxia type 6 by quantitative susceptibility mapping. Journal of the neurological sciences. vol 407. 2020-09-16. PMID:31639532. we used quantitative susceptibility mapping (qsm) to assess the brain iron deposition in 28 patients with the cerebellar subtype of multiple system atrophy (msa-c), nine patients with spinocerebellar ataxia type 6 (sca6), and 23 healthy controls. 2020-09-16 2023-08-13 Not clear
Elan D Louis, Chloë A Kerridge, Debotri Chatterjee, Regina T Martuscello, Daniel Trujillo Diaz, Arnulf H Koeppen, Sheng-Han Kuo, Jean-Paul G Vonsattel, Peter A Sims, Phyllis L Faus. Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach. Acta neuropathologica. vol 138. issue 5. 2020-09-15. PMID:31317229. to address this, we compared the severity and patterning of degenerative changes within the cerebellar cortex in patients with et, other neurodegenerative disorders of the cerebellum (spinocerebellar ataxias (scas), multiple system atrophy (msa)], and other disorders that may involve the cerebellum [parkinson's disease (pd), dystonia]. 2020-09-15 2023-08-13 Not clear
Anna Niewiadomska-Cimicka, Yvon Trottie. Molecular Targets and Therapeutic Strategies in Spinocerebellar Ataxia Type 7. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 4. 2020-08-24. PMID:31432449. spinocerebellar ataxia type 7 (sca7) is a rare autosomal dominant neurodegenerative disorder characterized by progressive neuronal loss in the cerebellum, brainstem, and retina, leading to cerebellar ataxia and blindness as major symptoms. 2020-08-24 2023-08-13 Not clear
Carlos R Hernandez-Castillo, Rosalinda Diaz, Israel Vaca-Palomares, Diana L Torres, Amanda Chirino, Aurelio Campos-Romo, Adriana Ochoa, Astrid Rasmussen, Juan Fernandez-Rui. Extensive cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism & related disorders. vol 66. 2020-08-04. PMID:31445906. extensive cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. 2020-08-04 2023-08-13 Not clear
Nesli-Ece Sen, Júlia Canet-Pons, Melanie V Halbach, Aleksandar Arsovic, Ulrich Pilatus, Woon-Hyung Chae, Zeynep-Ece Kaya, Kay Seidel, Ewa Rollmann, Michel Mittelbronn, David Meierhofer, Chris I De Zeeuw, Laurens W J Bosman, Suzana Gispert, Georg Auburge. Generation of an Atxn2-CAG100 knock-in mouse reveals N-acetylaspartate production deficit due to early Nat8l dysregulation. Neurobiology of disease. vol 132. 2020-07-27. PMID:31376479. spinocerebellar ataxia type 2 (sca2) is an autosomal dominant neurodegenerative disorder caused by cag-expansion mutations in the atxn2 gene, mainly affecting motor neurons in the spinal cord and purkinje neurons in the cerebellum. 2020-07-27 2023-08-13 mouse
Giovanna De Michele, Maria Lieto, Daniele Galatolo, Elena Salvatore, Sirio Cocozza, Melissa Barghigiani, Alessandra Tessa, Jacopo Baldacci, Sabina Pappatà, Alessandro Filla, Giuseppe De Michele, Filippo M Santorell. Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. Parkinsonism & related disorders. vol 65. 2020-06-26. PMID:31126790. spinocerebellar ataxia 48 has recently been described as an adult onset ataxia associated with a cerebellar cognitive affective syndrome, caused by a heterozygous mutation in the stub1 gene. 2020-06-26 2023-08-13 Not clear
Abdel R Abdelgabar, Judith Suttrup, Robin Broersen, Ritu Bhandari, Samuel Picard, Christian Keysers, Chris I De Zeeuw, Valeria Gazzol. Action perception recruits the cerebellum and is impaired in patients with spinocerebellar ataxia. Brain : a journal of neurology. vol 142. issue 12. 2020-05-21. PMID:31747689. action perception recruits the cerebellum and is impaired in patients with spinocerebellar ataxia. 2020-05-21 2023-08-13 human
Francesca Prestori, Francesco Moccia, Egidio D'Angel. Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA). International journal of molecular sciences. vol 21. issue 1. 2020-05-14. PMID:31892274. spinocerebellar ataxias (scas) constitute a heterogeneous group of more than 40 autosomal-dominant genetic and neurodegenerative diseases characterized by loss of balance and motor coordination due to dysfunction of the cerebellum and its efferent connections. 2020-05-14 2023-08-13 human
Lauren R Moore, Laura Keller, David D Bushart, Rodrigo G Delatorre, Duojia Li, Hayley S McLoughlin, Maria do Carmo Costa, Vikram G Shakkottai, Gary D Smith, Henry L Paulso. Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line. Stem cell research. vol 39. 2020-04-27. PMID:31374463. spinocerebellar ataxia type 3 (sca3) is a fatal, late-onset neurodegenerative disorder characterized by selective neuropathology in the brainstem, cerebellum, spinal cord, and substantia nigra. 2020-04-27 2023-08-13 human
Hongyu Yuan, Huihua Yang, Linliu Peng, Yun Peng, Zhao Chen, Linlin Wan, Chunrong Wang, Yuting Shi, Victor Wei Zhang, Beisha Tang, Rong Qiu, Hong Jian. Profiling of mitochondrial genomes in SCA3/MJD patients from mainland China. Gene. vol 738. 2020-04-27. PMID:32087274. spinocerebellar ataxia type 3, also known as machado-joseph disease (sca3/mjd), is the most common type of autosomal dominant cerebellar ataxias. 2020-04-27 2023-08-13 Not clear
Weifeng Li, Jiajun Zhuang, Zhiqiang Guo, Jeffery A Jones, Zhiqin Xu, Hanjun Li. Cerebellar contribution to auditory feedback control of speech production: Evidence from patients with spinocerebellar ataxia. Human brain mapping. vol 40. issue 16. 2020-04-14. PMID:31365181. cerebellar contribution to auditory feedback control of speech production: evidence from patients with spinocerebellar ataxia. 2020-04-14 2023-08-13 human
Christopher A Jenkins, Lajos Kalmar, Kaspar Matiasek, Lorenzo Mari, Kaisa Kyöstilä, Hannes Lohi, Ellen C Schofield, Cathryn S Mellersh, Luisa De Risio, Sally L Rickett. Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS genetics. vol 16. issue 1. 2020-04-13. PMID:31999692. the voltage-gated potassium channel protein kcnd3 has previously been implicated in spinocerebellar ataxia, and our findings suggest that the kv4 channel complex kcnip accessory subunits also have an essential role in voltage-gated potassium channel function in the cerebellum and should be investigated as potential candidate genes for cerebellar ataxia in future studies in other species. 2020-04-13 2023-08-13 dog
Chieh-Sen Chuang, Jui-Chih Chang, Bing-Wen Soong, Sheng-Fei Chuang, Ta-Tsung Lin, Wen-Ling Cheng, Harry T Orr, Chin-San Li. Treadmill training increases the motor activity and neuron survival of the cerebellum in a mouse model of spinocerebellar ataxia type 1. The Kaohsiung journal of medical sciences. vol 35. issue 11. 2020-04-06. PMID:31271500. treadmill training increases the motor activity and neuron survival of the cerebellum in a mouse model of spinocerebellar ataxia type 1. 2020-04-06 2023-08-13 mouse
Abhishek Lenka, Elan D Loui. Revisiting the Clinical Phenomenology of "Cerebellar Tremor": Beyond the Intention Tremor. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30565088. these include spinocerebellar ataxias, essential tremor, orthostatic tremor, dystonia, acute cerebellitis, cerebellar tumors, paraneoplastic cerebellar degeneration, and cerebellar strokes. 2019-12-06 2023-08-13 Not clear
Pietro B Azevedo, Anastácia G Rocha, Leda M N Keim, Daniel Lavinsky, Gabriel V Furtado, Eduardo P de Mattos, Fernando R Vargas, Vanessa B Leotti, Maria-Luiza Saraiva-Pereira, Laura B Jardi. Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30637674. spinocerebellar ataxia type 7 (sca7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. 2019-12-06 2023-08-13 human
Ruo-Yah Lai, Darya Tomishon, Karla P Figueroa, Stefan M Pulst, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S H Subramony, Tetsuo Ashizawa, Sheng-Han Ku. Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30830673. to further test this hypothesis, we studied the occurrence of tremor in different disease stages of classical cerebellar degenerative disorders: spinocerebellar ataxias (scas). 2019-12-06 2023-08-13 Not clear
Michela Lupo, Giusy Olivito, Claudia Iacobacci, Silvia Clausi, Silvia Romano, Marcella Masciullo, Marco Molinari, Mara Cercignani, Marco Bozzali, Maria Leggi. The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2. Cortex; a journal devoted to the study of the nervous system and behavior. vol 108. 2019-11-26. PMID:30121445. the cerebellar topography of attention sub-components in spinocerebellar ataxia type 2. 2019-11-26 2023-08-13 human
Michela Lupo, Giusy Olivito, Claudia Iacobacci, Silvia Clausi, Silvia Romano, Marcella Masciullo, Marco Molinari, Mara Cercignani, Marco Bozzali, Maria Leggi. The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2. Cortex; a journal devoted to the study of the nervous system and behavior. vol 108. 2019-11-26. PMID:30121445. spinocerebellar ataxia type 2 (sca2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome and multiple-domain cognitive impairments. 2019-11-26 2023-08-13 human
C J L M Smeets, D S Verbee. Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration. Biochimica et biophysica acta. vol 1842. issue 10. 2019-11-20. PMID:24726947. these include among others, the dominantly inherited spinocerebellar ataxias, recessive cerebellar ataxias such as friedreich's ataxia, and x-linked cerebellar ataxias. 2019-11-20 2023-08-13 Not clear