RESUMO
Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients with severe enzyme deficiency. In patients with severe deficiency, fixation was interrupted by frequent unwanted saccades toward minor visual distractions. Voluntary saccades were associated with an initial head movement and/or eyeblink in all of these patients. When head motion was prevented, voluntary saccades were often delayed and sometimes absent. In contrast, saccade speed, reflexive saccades, and other reflexive eye movements appeared clinically normal. Four patients with severe enzyme deficiency also experienced mild blepharospasm, and two had ocular tics. These disturbances of ocular motility are consistent with dysfunction of the basal ganglia or its connections with ocular motor centers in the prefrontal cortex or midbrain.
Assuntos
Síndrome de Lesch-Nyhan/complicações , Transtornos da Motilidade Ocular/complicações , Adolescente , Adulto , Criança , Feminino , Fixação Ocular/fisiologia , Humanos , Masculino , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/fisiopatologia , Movimentos Sacádicos/fisiologiaRESUMO
Various genetic models were examined with regard to the control of the antibody response in rats. Distributions of the response to poly(Glu52Lys33Tyr15) were determined in the inbred ACI (high responder) and F344 (low responder) strains and in the F1, F2 and backcross generations. Falconer's test for the effective number of genes showed that there was a larger number of genes involved if the maternal parent were the high responder strain. Studies in mating combinations involving high and moderate responders showed that the effective number of genes influencing the antibody response was much lower than in the mating between the high and low responders. Theoretical distributions of antibody response levels were generated using Monte Carlo techniques. The Kolmogorov-Smirnov goodness-of-fit test indicated that a three-gene model best fitted the matings involving the ACI female and that a two-gene model best fitted the matings involving the F344 female. These calculations indicate that the antibody response is a complex, multifactorial trait whose expression is significantly affected by the responder status of the maternal strain.
