J Mov Disord.  2017 Sep;10(3):149-153. 10.14802/jmd.17050.

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

Affiliations
  • 1Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. sjchung@amc.seoul.kr
  • 2Department of Neurology, Metro Hospital, Anyang, Korea.

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.

Keyword

Oculodentodigital dysplasia; gap junction alpha 1; Connexin-43

MeSH Terms

Gap Junctions
Humans
Muscle Spasticity*
Paraparesis, Spastic*
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