All Relations between Spinocerebellar Ataxias and cerebellum
| Publication | Sentence | Publish Date | Extraction Date | Species |
|---|---|---|---|---|
| Klivényi Péter, Szpisjak László, Salamon András, L Németh Viola, Szépfalusi Noémi, Zoltán Maróti, Kalmár Tibor, Zimmermann Aliz, Zádori Déne. [Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient]. Ideggyogyaszati szemle. vol 76. issue 1-2. 2023-03-09. PMID:36892293. | spinocerebellar ataxia type 48 (sca48) is an autosomal dominantly inherited disease characterized by gait and limb ataxia, cerebellar dysarthria, cognitive impairment, psychiatric abnormalities and variable types of movement disorders. |
2023-03-09 | 2023-08-14 | Not clear |
| Dominik Jäschke, Katharina M Steiner, Dae-In Chang, Jens Claaßen, Ellen Uslar, Andreas Thieme, Marcus Gerwig, Viktor Pfaffenrot, Thomas Hulst, Alexander Gussew, Stefan Maderwald, Sophia L Göricke, Martina Minnerop, Mark E Ladd, Jürgen R Reichenbach, Dagmar Timmann, Andreas Deistun. Age-Related Differences of Cerebellar Cortex and Nuclei: MRI findings in Healthy Controls and its Application to Spinocerebellar Ataxia (SCA6) Patients. NeuroImage. 2023-02-23. PMID:36822250. | understanding cerebellar alterations due to healthy aging provides a reference point against which pathological findings in late-onset disease, for example spinocerebellar ataxia type 6 (sca6), can be contrasted. | 2023-02-23 | 2023-08-14 | Not clear |
| Sophie Tezenas du Montcel, Emilien Petit, Titilayo Olubajo, Jennifer Faber, Pauline Lallemant-Dudek, Khalaf Bushara, Susan Perlman, Sub H Subramony, David Morgan, Brianna Jackman, Henry Lauris Paulson, Gülin Öz, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizaw. Baseline Clinical and Blood Biomarker in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology. 2023-02-16. PMID:36797067. | in spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations or biomarkers modifications. | 2023-02-16 | 2023-08-14 | Not clear |
| Yuka Tamura, Takayuki Sassa, Takumi Nishizawa, Akio Kihar. Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34. Molecular and cellular biology. 2023-02-07. PMID:36748939. | spinocerebellar ataxias (scas) are autosomal dominant diseases characterized by cerebellar atrophy and ataxia. | 2023-02-07 | 2023-08-14 | Not clear |
| Elan D Louis, Regina T Martuscello, John T Gionco, Whitney G Hartstone, Jessica B Musacchio, Marisa Portenti, Morgan McCreary, Sheng-Han Kuo, Jean-Paul G Vonsattel, Phyllis L Faus. Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains. Acta neuropathologica. 2023-01-06. PMID:36607423. | building off our prior study and now doubling the sample size, we conducted comparative analyses in a postmortem series of 320 brains on the severity and patterning of cerebellar cortex degenerative changes in et (n = 100), other neurodegenerative disorders of the cerebellum [spinocerebellar ataxias (scas, n = 47, including 13 sca3 and 34 sca1, 2, 6, 7, 8, 14); friedreich's ataxia (fa, n = 13); multiple system atrophy (msa), n = 29], and other disorders that may involve the cerebellum [parkinson's disease (pd), n = 62; dystonia, n = 19] versus controls (n = 50). | 2023-01-06 | 2023-08-14 | Not clear |
| Jacob Saucier, Mohammad Al-Qadi, Mouna Ben Amor, Kinya Ishikawa, Ludivine Chamard-Witkowsk. Spinocerebellar ataxia type 31: A clinical and radiological literature review. Journal of the neurological sciences. vol 444. 2022-12-23. PMID:36563608. | spinocerebellar ataxia type 31 (sca31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (adca type 3). | 2022-12-23 | 2023-08-14 | Not clear |
| Anna Niewiadomska-Cimicka, Antoine Hache, Stéphanie Le Gras, Céline Keime, Tao Ye, Aurelie Eisenmann, Imen Harichane, Michel J Roux, Nadia Messaddeq, Emmanuelle Clérin, Thierry Léveillard, Yvon Trottie. Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy. Journal of biomedical science. vol 29. issue 1. 2022-12-20. PMID:36539812. | spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disorder that primarily affects the cerebellum and retina. | 2022-12-20 | 2023-08-14 | mouse |
| Rebekah Koppenol, André Conceição, Inês T Afonso, Ricardo Afonso-Reis, Rafael G Costa, Sandra Tomé, Diogo Teixeira, Joana Pinto da Silva, José-Miguel Côdesso, David V C Brito, Liliana Mendonça, Adriana Marcelo, Luís Pereira de Almeida, Carlos A Matos, Clévio Nóbreg. The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits. Brain : a journal of neurology. 2022-12-13. PMID:36511898. | among polyq diseases, spinocerebellar ataxias (scas) share many common aspects, including the fact that they involve the functional compromise of the cerebellum, resulting in the hallmark ataxic signs. | 2022-12-13 | 2023-08-14 | mouse |
| Audrey Riquet, Pierre Cleuziou, Valentine Floret, Francois Quesque, Sabine Defoort, Thomas Smo. Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G. Pediatric neurology. vol 139. 2022-12-12. PMID:36508879. | to date, cacna1g mutations have been reported in autosomal dominant spinocerebellar ataxia designated sca42 and in early encephalopathies with cerebellar atrophy but never in periodic childhood manifestations of ptu type. | 2022-12-12 | 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. | single nuclei rna sequencing investigation of the purkinje cell and glial changes in the cerebellum of transgenic spinocerebellar ataxia type 1 mice. | 2022-12-02 | 2023-08-14 | mouse |
| 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 |
| 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. | together, our results suggest that abnormal synaptic signalling and intrinsic plasticity during the pre-ataxia stage of spinocerebellar ataxias underlie an aberrant cerebellar circuitry that anticipates the full extent of the disease severity. | 2022-11-10 | 2023-08-14 | mouse |
| Kavyashree Kulamarva, Umesh Chikkanna, Kishore Kumar Ramakrishna, Hemant Bhargav, Selva Ganapathy Velayutham, Shivarama Varamball. Integrative Approach Improves Fall Risk and Postural Stability in Spinocerebellar Ataxia-2 - A Case Report. International journal of yoga. vol 15. issue 2. 2022-11-04. PMID:36329776. | spinocerebellar ataxias (scas) comprise a large heterogeneous group of autosomal dominant cerebellar ataxias. | 2022-11-04 | 2023-08-14 | Not clear |
| Jing Guo, Zhouyu Jiang, Xinyuan Liu, Haoru Li, Bharat B Biswal, Bo Zhou, Wei Sheng, Qing Gao, Hui Chen, Yunshuang Fan, Wenyan Zhu, Jian Wang, Huafu Chen, Chen Li. Cerebello-cerebral resting-state functional connectivity in spinocerebellar ataxia type 3. Human brain mapping. 2022-10-17. PMID:36250694. | spinocerebellar ataxia type 3 (sca3) is a neurodegenerative disorder characterized by progressive motor and nonmotor deficits concomitant with degenerative pathophysiological changes within the cerebellum. | 2022-10-17 | 2023-08-14 | Not clear |
| Tatsuaki Kurosaki, Tetsuo Ashizaw. The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10. Frontiers in genetics. vol 13. 2022-10-06. PMID:36199580. | spinocerebellar ataxia type 10 (sca10) is characterized by progressive cerebellar neurodegeneration and, in many patients, epilepsy. | 2022-10-06 | 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 |
| Shigeki Hirano, Atsuhiko Sugiyama, Kimihito Ara. Noradrenergic Pathway to the Cerebellum: the Study Must Go On. Cerebellum (London, England). 2022-09-23. PMID:36149525. | cerebellar dysfunction and noradrenergic system may relate to tremor in parkinson disease and essential tremor, motor learning, and the vestibulo-ocular reflex in spinocerebellar ataxias. | 2022-09-23 | 2023-08-14 | rat |
| Ashley M Paul, Weiyi Mu, Ankur Butala, Kemar E Gree. Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome. Neurology. 2022-09-20. PMID:36127142. | she was initially postulated to have spinocerebellar ataxia or atypical parkinsonism with cerebellar features. | 2022-09-20 | 2023-08-14 | Not clear |