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Severe non-missile head injury commonly results in a form of brain damage known as diffuse axonal injury (DAI). The histological diagnosis of DAI is made by silver staining for the presence of axonal retraction balls. This feature takes about 24 h to develop and does not allow for the early histological diagnosis of DAI. We have used immunocytochemistry for(More)
beta-Amyloid precursor protein (beta APP) can be detected immunocytochemically at sites of axonal injury in the brain, and has recently been found to be a useful marker for injured axons in patients who survived for only 3 h after head trauma. It is transported by fast axonal transport and is thought to accumulate in detectable levels where the cytoskeleton(More)
We have examined brain sections from 55 autopsy cases of AIDS for the prevalence and severity of axonal damage, assessed using beta-amyloid precursor protein (beta APP) immunoreactivity as a marker of such damage. The cases were subdivided into cases with HIV encephalitis with multinucleated giant cells (MGC), cases with other specific pathology, such as(More)
BACKGROUND Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mutations within the slow skeletal muscle fibre myosin heavy chain gene, MYH7. It is allelic with myosin storage myopathy, with the commonest form of familial hypertrophic cardiomyopathy, and with one form of dilated cardiomyopathy. However, the clinical picture(More)
We describe a new neuromuscular disorder in the kyphoscoliotic mouse mutant (ky). Mice were killed at ages from birth to 210 days, and tissues were taken for standard light microscopy, histochemistry, nerve ending studies, and electron microscopy. At birth a few myofibers showed phagocytosis ultrastructurally. Between 6 and 25 days there was prominent(More)
The clinical features of Hashimoto's encephalopathy have been attributed to a cerebral vasculitis, but pathologic material is rarely available. The authors describe an individual with Hashimoto's encephalopathy complicated by fatal status epilepticus. Postmortem examination demonstrated mild perivascular lymphocytic infiltration throughout the brain and(More)
OBJECTIVES Cerebral small vessel disease (SVD) is common in aged brains and causes lacunar stroke, diffuse white matter lesions (leukoaraiosis), and vascular cognitive impairment. The pathogenesis is unknown. Endothelial dysfunction is a possible causal factor, and circulating markers of endothelial activation (intercellular adhesion molecule-1,(More)
Lafora disease (LD) is the most common teenage-onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyses exclude both loci from causative involvement in this family. Therefore, a third LD(More)
It has been suggested that the pathological lesions of Alzheimer's disease (AD) spread along neuronal connections. This study was designed to examine this hypothesis in the alvear and perforant pathways, two well-defined neuroanatomical pathways that project from the entorhinal cortex to the hippocampus. Paraffin-sections of hippocampal-entorhinal cortex(More)
Widespread damage to axons in the white matter of the brain is a well-recognised consequence of non-missile head injury. This diffuse axonal injury is characterised by a gradual swelling of the axon associated with an accumulation of cellular organelles and proteins. We have investigated the relationship between the size of the swellings of the damaged axon(More)