RESUMO
Reference is made to a case of Leber's disease in a patient with other slight neurological signs of the type encountered in hereditary ataxias. The importance of the case lies in the following points: (a) very early onset (this is a rare finding: 2.5% of cases, according to Ronne); (b) the presence of nervous abnormalities of the Charcot-Marie-Tooth amyotrophy type and of hereditary spinal of cerebellar ataxia in some of the 35 members of the patient's family, with or without optical atrophy; (c) the prevalence of the disease, though not to the total exclusion of females, suggesting a primarily diagynic multifactorial form of transmission. The main features of the case are compared with those reported in the literature.
Assuntos
Atrofia Óptica Hereditária de Leber/genética , Adolescente , Humanos , Masculino , Atrofia Óptica Hereditária de Leber/diagnóstico , LinhagemRESUMO
A simple radioimmunologic procedure for the detection of anti-hepatitis B antibody using the 125I Ausria kit (Abbott) is described. The rapidity, sensitivity and high specificity of this method are underlined.