Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review
Journal of Movement Disorders
;
: 149-153, 2017.
Artículo
en Inglés
| WPRIM
| ID: wpr-90981
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Uniones Comunicantes
/
Paraparesia Espástica
/
Espasticidad Muscular
Límite:
Humanos
Idioma:
Inglés
Revista:
Journal of Movement Disorders
Año:
2017
Tipo del documento:
Artículo
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