Clinical and Imaging Profile of Patients with Joubert Syndrome
- Author:
Bharath Kumar SURISETTI
1
;
Vikram Venkappayya HOLLA
;
Shweta PRASAD
;
Koti NEERAJA
;
Nitish KAMBLE
;
Ravi YADAV
;
Pramod Kumar PAL
Author Information
- Publication Type:12
- From:Journal of Movement Disorders 2021;14(3):231-235
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
