{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(3)"],"submitter":["Surisetti BK"],"pubmed_abstract":["<h4>Objective</h4>Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.<h4>Methods</h4>This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.<h4>Results</h4>Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.<h4>Conclusion</h4>Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS."],"journal":["Journal of movement disorders"],"pagination":["231-235"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8490194"],"repository":["biostudies-literature"],"pubmed_title":["Clinical and Imaging Profile of Patients with Joubert Syndrome."],"pmcid":["PMC8490194"],"pubmed_authors":["Holla VV","Prasad S","Neeraja K","Yadav R","Pal PK","Surisetti BK","Kamble N"],"additional_accession":[]},"is_claimable":false,"name":"Clinical and Imaging Profile of Patients with Joubert Syndrome.","description":"<h4>Objective</h4>Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.<h4>Methods</h4>This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.<h4>Results</h4>Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.<h4>Conclusion</h4>Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Sep","modification":"2024-12-04T03:18:45.674Z","creation":"2022-02-11T12:07:28.736Z"},"accession":"S-EPMC8490194","cross_references":{"pubmed":["34592808"],"doi":["10.14802/jmd.21066"]}}