RESUMEN
Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which frequently presents with dystonic symptoms. In a screen of 40 patients, we identified three variations, none of which occurred in EOP patients. Two infrequent intronic single base pair (bp) changes of unknown consequences were found in a dystonia patient and the mother of an EOP patient. An 18-bp deletion (Phe323_Tyr328del) in the TOR1A gene was found in a patient with early onset dystonia and myoclonic features. This deletion would remove 6 amino acids close to the carboxy terminus, including a putative phosphorylation site of torsinA. This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia.
Asunto(s)
Proteínas Portadoras/genética , Distonía Muscular Deformante/genética , Chaperonas Moleculares , Enfermedad de Parkinson/genética , Polimorfismo Genético , Adolescente , Adulto , Edad de Inicio , Niño , Preescolar , Cartilla de ADN , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Mutación , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Eliminación de SecuenciaRESUMEN
Basilar artery territory stroke may result from embolism arising from the site of vertebral artery occlusion. This stroke mechanism (local embolism) has been well documented in the middle cerebral artery territory from extracranial internal carotid artery disease but not fully appreciated in the vertebral basilar circulation. We report two patients whose clinical presentation indicated major basilar artery territory infarction documented by angiography to be the result of vertebral artery occlusion and artery-to-artery embolism. Vertebral artery occlusion has often been associated with a benign course, but under certain circumstances embolism to the basilar artery may complicate the outcome.