Biomedical subjects
Publications and source records attributed to G A Jervis.
A newborn male infant with multiple congenital abnormalities was found to be trisomic for 3p23----pter and monosomic for 11q23----qter. His parents were both carriers of a balanced reciprocal translocation. Considerable overlap in phenotype-karyotype correlations was found between the two chromosomal syndromes in the patient.
Intermitochondrial septate structures were found in the dystrophic axons of two cases of infantile neuroaxonal dystrophy. Septate structures were previously seen in some tumors (glioblastomas and Schwannomas) and several organs of vertebrates and invertebrates, but never in human central nervous system (CNS). The structures were studied by transmission and transmission tilt electron microscopy. A proposed model was constructed and X-rayed. Artist's depictions are shown and described. The intermitochondrial septate structures have a periodicity of 120 A which puts them within the range of those structures previously reported. It was found that our structures are not true junctions, but a complex interdigitation of the outer membranes of the involved mitochondria.
A brief description is given of neurofibrillary changes of the paired helical filament type in a variety of chronic neurological diseases. These include subacute sclerosing panencephalitis, lead encephalopathy, tuberous sclerosis, Down syndrome, Hallervorden-Spatz disease, and lipofuscinosis. In these conditions, with the exception of Hallervorden-Spatz disease neurofibrillary changes were previously recognized but paired helical filaments were identified only in some cases. Moreover, in the present series, the age of patients at death was often younger than in previously recorded cases.
The cases are described of two sibs who developed hepatic cirrhosis in early infancy, accompanied by profound mental retardation. Post mortem in one sib there were multiple foci of demyelination with abundant cellular infiltration, scattered throughout the brain. These unusual pathological changes are briefly commented.
A woman had a progressive neurologic syndrome beginning at age 3 and lasting for three decades. Clinical manifestations included severe mental deterioration, spastic paralysis, myoclonus, and tremors. A postmortem examination showed ubiquitous infiltration of neurons by lipofuscin and deposits of pigment in the globus pallidus and substantia nigra, as well as senile changes of nerve cells. Biochemical investigation of brain lipids showed an alteration of fatty acid composition of serine phosphoglycerides.
Similarities to human subacute sclerosing panencephalitis (SSPE) were revealed in a study of the brains of ferrets inoculated with a cell associated measles virus originally isolated from an SSPE patient. The similarities were greatest in animals that showed neurological signs 3-4 months after inoculation and had high titers of neutralizing antibodies against measles virus. These included dense core particles, nuclear bodies, alterations of basement membranes of small blood vessels, plasma cells, distorted myelin, and rod-like structures in some nuclei. Other abnormalities seen were Hirano bodies, tubular aggregates in cisternae of endoplasmic reticulum and clusters of cytoplasmic tubules. No cells containing viral inclusion bodies were observed by electron microscopy but cell cultures of the brains of these animals always yielded abundant measles virus nucleocapsids in typical SSPE multinucleated syncytia. These findings suggest that the ferret is a suitable animal model for the study of the pathogenesis of SSPE.
The case of a child is described who at the age of 2 years showed the first evidence of a developing neurological disease. Within a couple of years, profound mental retardation and severe motor deficit with spastic tetraplegia became established. No seizures and no pigmentation of the retina were observed. The condition remained practically unchanged for some 8 years and the patient died at 12 years of age of terminal bronchopneumonia. At autopsy there was conspicuous diffuse atrophy of the brain. The cerebral cortex was particularly involved. Most of the cortical neurons were destroyed and neuroglia showed abundant proliferation. The few remaining neurons contained inclusion material which was identified as lipofuscin. Noticeable cedifferences from the various types of amaurotic idiocies are noted and similarities to a case of lipidosis recently reported from Finland are suggested.
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