{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T13:30:05Z","timestamp":1778592605760,"version":"3.51.4"},"reference-count":20,"publisher":"The Korean Movement Disorder Society","issue":"3","license":[{"start":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T00:00:00Z","timestamp":1631750400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":["e-jmd.org"],"crossmark-restriction":true},"short-container-title":["JMD"],"published-print":{"date-parts":[[2021,9,30]]},"abstract":"<jats:p>Objective 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.Methods This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.Results 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.Conclusion 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.<\/jats:p>","DOI":"10.14802\/jmd.21066","type":"journal-article","created":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T07:23:37Z","timestamp":1631777017000},"page":"231-235","update-policy":"https:\/\/doi.org\/10.14802\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and Imaging Profile of Patients with Joubert Syndrome"],"prefix":"10.14802","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9294-1964","authenticated-orcid":true,"given":"Bharath Kumar","family":"Surisetti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3634-2219","authenticated-orcid":true,"given":"Vikram Venkappayya","family":"Holla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7025-4837","authenticated-orcid":true,"given":"Shweta","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2582-5845","authenticated-orcid":true,"given":"Koti","family":"Neeraja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7933-8826","authenticated-orcid":true,"given":"Nitish","family":"Kamble","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8016-9089","authenticated-orcid":true,"given":"Ravi","family":"Yadav","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4085-2377","authenticated-orcid":true,"given":"Pramod Kumar","family":"Pal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5803","reference":[{"key":"ref1","first-page":"20","volume-title":"Joubert syndrome and related disorders","author":"Brancati","year":"2010"},{"key":"ref2","first-page":"98","volume-title":"Cilia in the nervous system: linking cilia function and neurodevelopmental disorders","author":"Lee","year":"2011"},{"key":"ref3","first-page":"326","volume-title":"Clinical and molecular features of Joubert syndrome and related disorders","author":"Parisi","year":"2009"},{"key":"ref4","first-page":"302","volume-title":"Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation","author":"Joubert","year":"1968"},{"key":"ref5","first-page":"S2359","volume-title":"Joubert\u2019s syndrome with dystonic-ataxic tremor: a novel phenotypic 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anthropometry","author":"Braddock","year":"2007"},{"key":"ref13","first-page":"2995","volume-title":"Craniofacial ciliopathies: a new classification for craniofacial disorders","author":"Brugmann","year":"2010"},{"key":"ref14","first-page":"404","volume-title":"Congenital ocular motor apraxia with wheel-rolling ocular torsiona neurodiagnostic phenotype of Joubert syndrome","author":"Papanagnu","year":"2014"},{"key":"ref15","first-page":"605","volume-title":"Review of ocular manifestations of Joubert syndrome","author":"Wang","year":"2018"},{"key":"ref16","first-page":"1929","volume-title":"Diffusion tensor imaging in Joubert syndrome","author":"Poretti","year":"2007"},{"key":"ref17","first-page":"14020","volume-title":"Mutation spectrum of Joubert syndrome and related disorders among Arabs","author":"Ben-Salem","year":"2014"},{"key":"ref18","first-page":"15045","volume-title":"Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies","author":"Wentzensen","year":"2015"},{"key":"ref19","first-page":"72","volume-title":"Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome","author":"Romani","year":"2014"},{"key":"ref20","first-page":"935","volume-title":"A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome","author":"Hebbar","year":"2018"}],"container-title":["Journal of Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/e-jmd.org\/upload\/jmd-21066.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-jmd.org\/journal\/view.php?doi=10.14802\/jmd.21066","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-jmd.org\/upload\/jmd-21066.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,29]],"date-time":"2021-09-29T07:49:55Z","timestamp":1632901795000},"score":1,"resource":{"primary":{"URL":"http:\/\/e-jmd.org\/journal\/view.php?doi=10.14802\/jmd.21066"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,30]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,9]]}},"URL":"https:\/\/doi.org\/10.14802\/jmd.21066","relation":{},"ISSN":["2005-940X","2093-4939"],"issn-type":[{"value":"2005-940X","type":"print"},{"value":"2093-4939","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,30]]},"assertion":[{"value":"2021-05-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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