Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
Journal of Movement Disorders
;
: 53-58, 2017.
Artículo
en Inglés
| WPRIM
| ID: wpr-73979
ABSTRACT
Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Apnea
/
Fenotipo
/
Neumonía por Aspiración
/
Sodio
/
Reflejo de Sobresalto
/
Testamentos
/
Accidentes por Caídas
/
Síndrome de la Persona Rígida
/
Clonazepam
/
Receptores de Glicina
Tipo de estudio:
Revisiones Sistemáticas Evaluadas
Límite:
Adulto
/
Humanos
Idioma:
Inglés
Revista:
Journal of Movement Disorders
Año:
2017
Tipo del documento:
Artículo
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