RESUMEN
Creutzfeldt-Jakob disease (CJD) belongs to a group of chronic, progressive, neurodegenerative disorders that may be hereditary, infectious, or sporadic. Hereditary CJDs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report a family in which four patients developed classical clinical signs of CJD, including severe cognitive decline, cerebellar signs, myoclonic jerks, and synchronic periodic discharges on electroencephalogram. The E211Q mutation has been identified in family members, but not in 97 sporadic CJD patients referred to the Italian registry of CJD nor in 205 healthy normal subjects, suggesting a pathogenic role for this mutation.
Asunto(s)
Codón/genética , Síndrome de Creutzfeldt-Jakob/genética , Proteínas PrPSc/genética , Adulto , Anciano , Anciano de 80 o más Años , Sustitución de Aminoácidos , ADN/química , ADN/genética , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Humanos , Masculino , Mutación , Linaje , Mutación PuntualRESUMEN
A 60-year-old patient had a 3-year history of recurrent memory disturbances. The video electroencephalographic (EEG) recording of one attack showed that the amnesic state, which clinically resembled transient global amnesia, was characterized by a normal EEG tracing followed by electroclinical complex partial seizures. We suggest that "epileptic" transient global amnesia is postictal in nature.