Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review.
- Author:
Kye Won PARK
1
;
Ho Sung RYU
;
Juyeon KIM
;
Sun Ju CHUNG
Author Information
- Publication Type:Case Report
- Keywords: Oculodentodigital dysplasia; gap junction alpha 1; Connexin-43
- MeSH: Gap Junctions; Humans; Muscle Spasticity*; Paraparesis, Spastic*
- From:Journal of Movement Disorders 2017;10(3):149-153
- CountryRepublic 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.
