All Relations between Spinocerebellar Ataxias and cerebellum

Publication Sentence Publish Date Extraction Date Species
Maurizio Cundari, Susanna Vestberg, Peik Gustafsson, Sorina Gorcenco, Anders Rasmusse. Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia. Frontiers in systems neuroscience. vol 17. 2023-07-07. PMID:37415926. several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (adhd), autism spectrum disorder (asd), as well as neurological diseases such as spinocerebellar ataxia type 3 (sca3) are associated with differences in cerebellar function. 2023-07-07 2023-08-14 Not clear
Ziwei Gong, Lifang Le. Spinocerebellar ataxia type 11 (SCA11): An update. The European journal of neuroscience. 2023-06-17. PMID:37329117. spinocerebellar ataxias, also called autosomal dominant cerebellar ataxias, are a group of neurological genetic diseases characterised by chronic, progressive cerebellar ataxia. 2023-06-17 2023-08-14 Not clear
Federica Pilotto, Christopher Douthwaite, Rim Diab, XiaoQian Ye, Zahraa Al Qassab, Christoph Tietje, Meriem Mounassir, Adolfo Odriozola, Aishwarya Thapa, Ronald A M Buijsen, Sophie Lagache, Anne-Christine Uldry, Manfred Heller, Stefan Müller, Willeke M C van Roon-Mom, Benoît Zuber, Sabine Liebscher, Smita Saxen. Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1. Neuron. 2023-06-15. PMID:37321222. using in vivo two-photon imaging in behaving spinocerebellar ataxia type 1 (sca1) mice, wherein purkinje neurons (pns) degenerate, we identify an inhibitory circuit element (molecular layer interneurons [mlins]) that becomes prematurely hyperexcitable, compromising sensorimotor signals in the cerebellum at early stages. 2023-06-15 2023-08-14 mouse
Chandrakanth Reddy Edamakanti, Vishwa Mohan, Puneet Opa. Reactive Bergmann glia play a central role in spinocerebellar ataxia inflammation via the JNK pathway. Journal of neuroinflammation. vol 20. issue 1. 2023-05-26. PMID:37237366. the spinocerebellar ataxias (scas) are devastating neurological diseases characterized by progressive cerebellar incoordination. 2023-05-26 2023-08-14 mouse
Karamazovova Simona, Matuskova Veronika, Ismail Zahinoor, Vyhnalek Marti. Neuropsychiatric symptoms in spinocerebellar ataxias and Friedreich ataxia. Neuroscience and biobehavioral reviews. 2023-05-03. PMID:37137435. spinocerebellar ataxias (sca) and friedreich ataxia (frda) are rare neurodegenerative diseases of the cerebellum presenting mainly with a progressive loss of gait and limb coordination, dysarthria, and other motor disturbances, but also a range of cognitive and neuropsychiatric symptoms. 2023-05-03 2023-08-14 Not clear
Niharika Duggirala, Kathie J Ngo, Sabrina M Pagnoni, Alberto L Rosa, Brent L Foge. Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report. Journal of medical case reports. vol 17. issue 1. 2023-04-26. PMID:37101238. hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination. 2023-04-26 2023-08-14 Not clear
Nicole M Eklund, Jessey Ouillon, Vineet Pandey, Christopher D Stephen, Jeremy D Schmahmann, Jeremy Edgerton, Krzysztof Z Gajos, Anoopum S Gupt. Real-life ankle submovements and computer mouse use reflect patient-reported function in adult ataxias. Brain communications. vol 5. issue 2. 2023-03-30. PMID:36993945. thirty-four individuals with degenerative ataxias (spinocerebellar ataxia types 1, 2, 3 and 6 and multiple system atrophy of the cerebellar type) and eight age-matched controls completed the cross-sectional study. 2023-03-30 2023-08-14 mouse
Polina A Egorova, Ksenia S Marinina, Ilya B Bezprozvann. Chronic suppression of STIM1-mediated calcium signaling in Purkinje cells rescues the cerebellar pathology in spinocerebellar ataxia type 2. Biochimica et biophysica acta. Molecular cell research. 2023-03-20. PMID:36940741. chronic suppression of stim1-mediated calcium signaling in purkinje cells rescues the cerebellar pathology in spinocerebellar ataxia type 2. 2023-03-20 2023-08-14 mouse
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