Presynaptic neuromuscular transmission defect in the stiff person syndrome.
BMC Neurol
; 16(1): 249, 2016 Dec 01.
Article
en En
| MEDLINE
| ID: mdl-27905901
BACKGROUND: The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness. CASE PRESENTATIONS: We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to administration of pyridostigmine. In contrast, no electrophysiolgical evidence of neuromuscular transmission defect was demonstrated in 2 other SPS patients without fatigue symptoms. CONCLUSIONS: Our findings suggest that glutamic acid decarboxylase (GAD) antibodies may play a role in presynaptic neuromuscular transmission defect of SPS patients with fatigue.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Autoanticuerpos
/
Síndrome de la Persona Rígida
/
Transmisión Sináptica
/
Fatiga
/
Glutamato Descarboxilasa
/
Unión Neuromuscular
Tipo de estudio:
Etiology_studies
Límite:
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
BMC Neurol
Asunto de la revista:
NEUROLOGIA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Singapur
Pais de publicación:
Reino Unido