{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mayoral-Palarz K"],"funding":["National Institute of Neurological Disorders and Stroke","Fundação para a Ciência e a Tecnologia","NINDS NIH HHS","Portuguese Platform of Bioimaging"],"pagination":["dmm049514"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9367011"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(8)"],"pubmed_abstract":["Spinocerebellar ataxia type 3 (SCA3) is an adult-onset, progressive ataxia. SCA3 presents with ataxia before any gross neuropathology. A feature of many cerebellar ataxias is aberrant cerebellar output that contributes to motor dysfunction. We examined whether abnormal cerebellar output was present in the CMVMJD135 SCA3 mouse model and, if so, whether it correlated with the disease onset and progression. In vivo recordings showed that the activity of deep cerebellar nuclei neurons, the main output of the cerebellum, was altered. The aberrant activity correlated with the onset of ataxia. However, although the severity of ataxia increased with age, the severity of the aberrant cerebellar output was not progressive. The abnormal cerebellar output, however, was accompanied by non-progressive a"],"journal":["Disease models & mechanisms"],"pubmed_title":["Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3."],"pmcid":["PMC9367011"],"funding_grant_id":["SFRH/BD/147947/2019","F31NS105406","PPBI-POCI-01-0145-FEDER-022122","R01NS050808","R01 NS050808","CEECIND/00685/2020","SFRH/BPD/118779/2016","F31 NS105406"],"pubmed_authors":["Neves-Carvalho A","Mayoral-Palarz K","Duarte-Silva S","Monteiro-Fernandes D","Maciel P","Khodakhah K"],"additional_accession":[]},"is_claimable":false,"name":"Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3.","description":"Spinocerebellar ataxia type 3 (SCA3) is an adult-onset, progressive ataxia. SCA3 presents with ataxia before any gross neuropathology. A feature of many cerebellar ataxias is aberrant cerebellar output that contributes to motor dysfunction. We examined whether abnormal cerebellar output was present in the CMVMJD135 SCA3 mouse model and, if so, whether it correlated with the disease onset and progression. In vivo recordings showed that the activity of deep cerebellar nuclei neurons, the main output of the cerebellum, was altered. The aberrant activity correlated with the onset of ataxia. However, although the severity of ataxia increased with age, the severity of the aberrant cerebellar output was not progressive. The abnormal cerebellar output, however, was accompanied by non-progressive a","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-05T08:55:33.014Z","creation":"2025-04-05T08:55:33.014Z"},"accession":"S-EPMC9367011","cross_references":{"pubmed":["35660856"],"doi":["10.1242/dmm.049514"]}}