Journal of Movement Disorders  2017;10(3):149-153

doi:10.14802/jmd.17050

Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review.

Kye Won PARK 1 ; Ho Sung RYU ; Juyeon KIM ; Sun Ju CHUNG

Affiliations

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Keywords

Oculodentodigital dysplasia; gap junction alpha 1; Connexin-43

Country

Republic of Korea

Language

English

Abstract

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.