ABSTRACT
We describe clinical and genetic analysis of a family with spinocerebellar ataxia 17 (SCA17) presenting with a Huntington disease-like (HDL) syndrome. Clinically diagnosed, HD is genetically heterogeneous. Differential diagnosis includes SCA17. However, SCA17 HDL presentation has been observed only sporadically or in solitary individuals within a family. HDL phenotypic homogeneity in SCA17 has not been described. SCA17 can present with a HDL syndrome in multiple family members.
Subject(s)
Genetic Predisposition to Disease/genetics , Huntington Disease/diagnosis , Spinocerebellar Ataxias/diagnosis , Spinocerebellar Ataxias/genetics , TATA-Box Binding Protein/genetics , Adult , Atrophy/pathology , Atrophy/physiopathology , Brain/pathology , Brain/physiopathology , DNA Mutational Analysis , Diagnosis, Differential , Female , Genetic Testing , Genotype , Humans , Inheritance Patterns , Male , Middle Aged , Mutation/genetics , Pedigree , Phenotype , Spinocerebellar Ataxias/physiopathology , Syndrome , Trinucleotide Repeat Expansion/geneticsABSTRACT
An indirect enzyme-linked immunosorbent assay (ELISA) was developed which was specific and sensitive in detecting antibodies to Ehrlichia risticii in Potomac horse fever (PHF). The ELISA antibody titers were correlated with the indirect fluorescent antibody (IFA) titers. E. risticii propagated in human histiocyte culture was purified on renografin gradient and the band of the organisms at a density of 1.182 g/ml was used as antigen. ELISA antibody titers were determined through computer assisted analysis, the observed antibody titers were derived by serial serum dilutions and using a resultant standard curve the predicted antibody titers were obtained from a single serum dilution. The standard curve had a correlation coefficient of 0.8975. The observed and predicted antibody titers were in good agreement, as the respective titers fell within a two-fold range. There was a good correlation between ELISA and IFA test results, but the ELISA titers were several times higher. In experimental infections of horses produced with the infected equine whole blood and the Ehrlichia infected macrophage culture, the antibodies were first detected in two weeks and one week postinoculation (PI), respectively. In both cases the titers reached a peak in about 4 weeks PI with a mean titer of 1:16558 and 1:4030, respectively. The antibody titers of the convalescent sera of field cases of PHF were comparatively lower than the experimentally infected horses.
Subject(s)
Antibodies, Bacterial/analysis , Horse Diseases/immunology , Rickettsiaceae Infections/veterinary , Animals , Ehrlichia/immunology , Enzyme-Linked Immunosorbent Assay/methods , Horse Diseases/diagnosis , Horses , Rickettsiaceae Infections/diagnosis , Rickettsiaceae Infections/immunologyABSTRACT
Radiographic techniques have been applied to the measure the size, volume and relationships of the posterior fossa, aqueduct and fourth ventricle in two strains of laboratory mice. Significant differences in the size of posterior fossae between strains were observed. Using ventriculography in the living mouse, the outflow tract of the fourth ventricle was demonstrated, together with a communication that exists between the third ventricle and the subarachnoid space.
