Three different microanalytical methods were used to identify calcium deposits in the sciatic nerve perineurium of a 33-year-old woman who died after developing nephropathy, retinopathy, and neuropathy as complications of diabetes. Scanning electron microscopic x-ray microanalysis (SEM-XMA) enabled localization of calcium and phosphorus elements to the perineurium in whole nerve cross sections. With SEM-XMA and scanning-transmission electron microscopic x-ray microanalysis (STEM-XMA) of the minute crystallites in the perineurium, the approximate relative amounts of calcium and phosphorus in the deposits were found to correspond to those in calcium hydroxyapatite. Finally, the crystallites were specifically identified by selected area electron diffraction, and were found to be composed mainly of calcium hydroxyapatite.

Adult↗

PubMedDate not supplied

Gelsolin variant and beta-amyloid co-occur in a case of Alzheimer's with Lewy bodies.

Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of amyloidosis which is related to a point mutation in the gelsolin gene localized on chromosome 9. The mutation corresponds to codon 187 of the secreted form of gelsolin, and is expressed in the amyloid fibril at residue 15. Our original FAF patient was demented, and neuropathological analysis showed Alzheimer type brain lesions associated with both classical and cortical Lewy bodies. Furthermore, antiserum against the gelsolin-derived FAF amyloid reacted strongly with both classical and cortical Lewy bodies of this FAF patient. In preliminary experiments similar results were obtained in cases of Parkinson's disease and diffuse Lewy body disease. These observations may indicate a role for gelsolin in the pathogenesis of Parkinson's disease and related conditions.

Aged↗

PubMedDate not supplied

APOE alleles in Alzheimer's disease and vascular dementia in a population aged 85+.

Apolipoprotein E genotyping was carried out in a stratified random sample of 52 patients with Alzheimer's disease, 48 patients with vascular or mixed dementia, and 49 nondemented controls in a population-based study of people aged 85 and older (the Vantaa 85+ Study). Our results indicate that the apolipoprotein E epsilon 4 allele is associated with approximately a twofold increase in clinically diagnosed Alzheimer's disease in this very old general population aged 85+. When combined with previous studies, our data also suggest that the association is decreasing with age. In contrast, there appears to be no relation between apolipoprotein E alleles and clinically diagnosed vascular dementia.

Aged↗

PubMedDate not supplied

Cerebral MR and CT imaging in Creutzfeldt-Jakob disease.

Magnetic resonance (MR) imaging and CT of three patients with Creutzfeldt-Jakob disease (CJD) showed bilateral cortical atrophy and no apparent white matter changes. Serial examinations revealed the progressive nature of the atrophy, findings compatible with the patients' clinical deterioration. At autopsy some white matter abnormalities were detected in one patient 6 months after MR imaging. The available data suggest that the white matter abnormalities, if present, develop during the final stage of CJD.

Aged↗

PubMedDate not supplied

Brain pathology in the Meckel syndrome: a study of 59 cases.

The Meckel syndrome (MS), relatively frequent in Finland, has been subjected to a nationwide study regarding the spectrum of anomalies, diagnostic criteria and epidemiology. This report describes the observations made on brain pathology in the 59 cases in the series. 10 cases were studied neuropathologically after formalin fixation of the brain. A spectrum of CNS malformations was seen with craniorachischisis totalis at the most severe end and a partial defect of corpus callosum as the only abnormality at the mildest end of the malformative spectrum. The most consistent malformation was occipital meningo-encephalocele, observed in 90% of the cases. Absence of olfactory bulbs was almost as frequent, while only two cases with a telencephalic holosphere were observed. Defects in midline commissuration (including absent or incomplete corpus callosum), associated with absence of the lateral ventricles, represented the third group of malformations common in MS. Polymicrogyria, heterotopias and characteristic, neuroepithelial rosettes were frequent microscopic features. Brain pathology in the Meckel syndrome thus displays a wide malformative spectrum with disturbances in both dorsal and ventral induction as well as in proliferation and migration. These findings suggest a heterochronic pathogenesis compatible with the genetic nature of this syndrome.

Abnormalities, Multiple↗