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JMD : Journal of Movement Disorders



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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
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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 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

JMD : Journal of Movement Disorders