Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review
Journal of Movement Disorders
;
: 149-153, 2017.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Junções Comunicantes
/
Paraparesia Espástica
/
Espasticidade Muscular
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Movement Disorders
Ano de publicação:
2017
Tipo de documento:
Artigo
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