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Brief communication
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
  • 2,336 View
  • 81 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
Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review
Kye Won Park, Ho-Sung Ryu, Juyeon Kim, Sun Ju Chung
J Mov Disord. 2017;10(3):149-153.   Published online September 22, 2017
DOI: https://doi.org/10.14802/jmd.17050
  • 5,499 View
  • 127 Download
  • 4 Citations
AbstractAbstract PDFSupplementary Material
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.

Citations

Citations to this article as recorded by  
  • Glial Connexins and Pannexins in the Healthy and Diseased Brain
    Christian Giaume, Christian C. Naus, Juan C. Sáez, Luc Leybaert
    Physiological Reviews.2021; 101(1): 93.     CrossRef
  • Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases
    Virang Kumar, Natario L. Couser, Arti Pandya
    Case Reports in Ophthalmological Medicine.2020; 2020: 1.     CrossRef
  • Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review
    Zhirong Wang, Limei Sun, Panfeng Wang, Chonglin Chen, Aiyuan Zhang, Weiqing Wang, Xiaoyan Ding
    Ophthalmic Genetics.2019; 40(1): 54.     CrossRef
  • Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
    I. Harting, S. Karch, U. Moog, A. Seitz, P.J.W. Pouwels, N.I. Wolf
    American Journal of Neuroradiology.2019; 40(5): 903.     CrossRef
Original Article
Survival of Korean Huntington’s Disease Patients
Han-Joon Kim, Chae-Won Shin, Beomseok Jeon, Hyeyoung Park
J Mov Disord. 2016;9(3):166-170.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16022
  • 13,641 View
  • 143 Download
  • 6 Citations
AbstractAbstract PDF
Objective
The survival of Huntington’s disease (HD) patients is reported to be 15–20 years. However, most studies on the survival of HD have been conducted in patients without genetic confirmation with the possible inclusion of non-HD patients, and all studies have been conducted in Western countries. The survival of patients with HD in East Asia, where its prevalence is 10–50-fold lower compared with Western populations, has not yet been reported.
Methods
Forty-seven genetically confirmed Korean HD patients from independent families were included in this retrospective medical record review study.
Results
The mean age at onset among the 47 patients was 46.1 ± 14.0 years. At the time of data collection, 25 patients had died, and these patients had a mean age at death of 57.8 ± 13.7 years. The Kaplan-Meier estimate of the median survival from onset in the 47 patients was 14.5 years (95% confidence interval: 12.3–16.6). None of the following factors were associated with the survival time in the univariate Cox regression analysis: gender, age at onset, normal CAG repeat size, mutant CAG repeat size, and the absence or presence of non-motor symptoms at onset.
Conclusion
This is the first Asian study on survival in HD patients. Survival in Korean HD patients may be shorter than that reported for Western populations, or at least is in the lower range of expected survival. A larger longitudinal observation study is needed to confirm the results found in this study.

Citations

Citations to this article as recorded by  
  • Functional Intercellular Transmission of miHTT via Extracellular Vesicles: An In Vitro Proof-of-Mechanism Study
    Roberto D. V. S. Morais, Marina Sogorb-González, Citlali Bar, Nikki C. Timmer, M. Leontien Van der Bent, Morgane Wartel, Astrid Vallès
    Cells.2022; 11(17): 2748.     CrossRef
  • Huntington's disease: Mortality and risk factors in an Australian cohort
    Emily Sun, Matthew Kang, Pierre Wibawa, Vivian Tsoukra, Zhibin Chen, Sarah Farrand, Dhamidhu Eratne, Wendy Kelso, Andrew Evans, Mark Walterfang, Dennis Velakoulis, Samantha M. Loi
    Journal of the Neurological Sciences.2022; 442: 120437.     CrossRef
  • Huntington’s disease in Turkey: genetic counseling, clinical features, and outcome
    Yesim Sucullu Karadag, Busranur Erozan Cavdarli, Rabia Nazik Yuksel
    Neurological Research.2021; 43(5): 381.     CrossRef
  • Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain
    Esther Vicente, Ainara Ruiz de Sabando, Fermín García, Itziar Gastón, Eva Ardanaz, María A. Ramos-Arroyo
    Orphanet Journal of Rare Diseases.2021;[Epub]     CrossRef
  • Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study
    C.A. Demetriou, A. Heraclides, C. Salafori, G.A. Tanteles, K. Christodoulou, Y. Christou, E. Zamba-Papanicolaou
    Clinical Genetics.2018; 93(3): 656.     CrossRef
  • Population-specific genetic modification of Huntington's disease in Venezuela
    Michael J. Chao, Kyung-Hee Kim, Jun Wan Shin, Diane Lucente, Vanessa C. Wheeler, Hong Li, Jared C. Roach, Leroy Hood, Nancy S. Wexler, Laura B. Jardim, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E. MacDonald, James F. Gusella, Jong-Min L
    PLOS Genetics.2018; 14(5): e1007274.     CrossRef
Case Report
Psychogenic Balance Disorders: Is It a New Entity of Psychogenic Movement Disorders?
Jong Sam Baik, Myung Sik Lee
J Mov Disord. 2012;5(1):24-27.
DOI: https://doi.org/10.14802/jmd.12007
  • 14,816 View
  • 91 Download
  • 2 Citations
AbstractAbstract PDF

The various reported psychogenic dyskinesias include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. It is not easy to diagnose psychogenic movement disorders, especially in patients with underlying organic disease. We describe three patients with balance and/or posture abnormalities that occur when they stand up, start to move, or halt from walking, although their gaits are normal. One had an underlying unilateral frontal lobe lesion. All patients improved dramatically after receiving a placebo-injection or medication. These abnormal features differ from the previously reported features of astasia without abasia and of psychogenic gait disorders, including recumbent gait. We describe and discuss the patients’ unique clinical characteristics.

Citations

Citations to this article as recorded by  
  • Somatization in Parkinson's Disease: A systematic review
    Danilo Carrozzino, Per Bech, Chiara Patierno, Marco Onofrj, Bo Mohr Morberg, Astrid Thomas, Laura Bonanni, Mario Fulcheri
    Progress in Neuro-Psychopharmacology and Biological Psychiatry.2017; 78: 18.     CrossRef
  • Functional movement disorders
    Anita Barbey, Selma Aybek
    Current Opinion in Neurology.2017; 30(4): 427.     CrossRef

JMD : Journal of Movement Disorders