Journal of Movement Disorders

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

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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

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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

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