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Brief communications
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
Vikram Venkappayya Holla, Koti Neeraja, Albert Stezin, Shweta Prasad, Bharat Kumar Surisetti, Manjunath Netravathi, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2022;15(2):156-161.   Published online March 16, 2022
DOI: https://doi.org/10.14802/jmd.21146
  • 1,148 View
  • 131 Download
AbstractAbstract PDFSupplementary Material
Objective
With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.
Methods
This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.
Results
Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1–58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.
Conclusion
CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.
Clinical and Imaging Profile of Patients with Joubert Syndrome
Bharath Kumar Surisetti, Vikram Venkappayya Holla, Shweta Prasad, Koti Neeraja, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2021;14(3):231-235.   Published online September 16, 2021
DOI: https://doi.org/10.14802/jmd.21066
  • 2,318 View
  • 80 Download
  • 2 Citations
AbstractAbstract PDFSupplementary Material
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.

Citations

Citations to this article as recorded by  
  • CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
    Reza Shervin Badv, Mojdeh Mahdiannasser, Maryam Rasoulinezhad, Laleh Habibi, Ali Rashidi-Nezhad
    Molecular Biology Reports.2022; 49(8): 7231.     CrossRef
  • Congenital Brain Malformations: An Integrated Diagnostic Approach
    Bimal P. Chaudhari, Mai-Lan Ho
    Seminars in Pediatric Neurology.2022; 42: 100973.     CrossRef
Case Report
Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
Koti Neeraja, Vikram Venkappayya Holla, Shweta Prasad, Bharath Kumar Surisetti, Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2021;14(1):65-69.   Published online October 31, 2020
DOI: https://doi.org/10.14802/jmd.20083
  • 3,507 View
  • 118 Download
  • 1 Citations
AbstractAbstract PDFSupplementary Material
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

Citations

Citations to this article as recorded by  
  • A fuzzy rule based machine intelligence model for cherry red spot disease detection of human eyes in IoMT
    Kalyan Kumar Jena, Sourav Kumar Bhoi, Debasis Mohapatra, Chittaranjan Mallick, Kshira Sagar Sahoo, Anand Nayyar
    Wireless Networks.2022;[Epub]     CrossRef
Brief communication
Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis
Vikram Venkappayya Holla, Koti Neeraja, Bharath Kumar Surisetti, Shweta Prasad, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2020;13(3):218-222.   Published online August 31, 2020
DOI: https://doi.org/10.14802/jmd.20073
  • 6,535 View
  • 95 Download
  • 4 Citations
AbstractAbstract PDF
Objective
The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We report our experience with the management of acute worsening of symptoms due to battery exhaustion in 3 patients with DBS.
Methods
Patients with DBS for movement disorders who visited the emergency room due to battery exhaustion during the nationwide lockdown from April to May 2020 were included.
Results
Two patients with subthalamic nucleus-DBS for Parkinson’s disease (PD) and one with globus pallidus interna-DBS for generalized dystonia presented with acute worsening of symptoms due to battery exhaustion. Urgent battery replacement was performed in both patients with PD. The patient with generalized dystonia was managed with medication adjustment as he chose to defer battery replacement.
Conclusion
DBS battery replacement can be an emergency. Decisions regarding DBS battery replacement should be individualized during this COVID-19 pandemic.

Citations

Citations to this article as recorded by  
  • Needs and Perceptions of Patients With Dystonia During the COVID-19 Pandemic: A Qualitative Framework Analysis of Survey Responses From Italy
    Vittorio Rispoli, Matías Eduardo Díaz Crescitelli, Francesco Cavallieri, Francesca Antonelli, Stefano Meletti, Luca Ghirotto, Franco Valzania
    Frontiers in Neurology.2022;[Epub]     CrossRef
  • Parkinsonism hyperpyraexia syndrome in Parkinson's disease patients undergoing deep brain stimulation: An indirect consequence of COVID-19 lockdowns
    Onanong Phokaewvarangkul, Sasivimol Virameteekul, Roongroj Bhidayasiri
    Parkinsonism & Related Disorders.2021; 87: 39.     CrossRef
  • An Investigation Into Miniaturised Closed-Loop DBS Devices
    Dean M. Corva, Scott D. Adams, Kevin E. Bennet, Parastoo Hashemi, Michael Berk, Abbas Z. Kouzani
    IEEE Transactions on Medical Robotics and Bionics.2021; 3(3): 671.     CrossRef
  • Effects of COVID-19 Lockdown on Movement Disorders Patients With Deep Brain Stimulation: A Multicenter Survey
    Carla Piano, Francesco Bove, Tommaso Tufo, Isabella Imbimbo, Danilo Genovese, Alessandro Stefani, Massimo Marano, Antonella Peppe, Livia Brusa, Rocco Cerroni, Francesco Motolese, Enrico Di Stasio, Marianna Mazza, Antonio Daniele, Alessandro Olivi, Paolo C
    Frontiers in Neurology.2020;[Epub]     CrossRef

JMD : Journal of Movement Disorders