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Biomedical subjects

N Baumann

Publications and source records attributed to N Baumann.

At least 73 records · Page 4Linked to original sources
PubMed1991

Cognitive function in adult adrenoleukodystrophy: comparison with leukoaraiosis and multiple sclerosis.

Cognitive evaluation of 6 cases of adult adrenoleukodystrophy (ALD) included in a brain magnetic resonance (MR) study are reported: 2 males with adrenomyeloneuropathy and 4 women heterozygous for ALD. Cognition was normal in 4 and MR scan in 2 of them. In the 2 others, there were mild modifications of the white matter. One patient suffered of visual retention disturbances with abnormalities of the white matter in MR scan. In the last, cognitive decline was observed; MR scan showed atrophy of cortex and corpus callosum and periventricular high signal areas. Comparison with leukoaraiosis in healthy adults and with multiple sclerosis suggests that there is probably a relationship between cognition and extension of brain MR abnormalities. Time of appearance and frequency of cognitive dysfunction might be explained by the natural history of each of these diseases.

Adrenoleukodystrophy↗
PubMed1991

Clinical aspects of Niemann-Pick type C disease in the adult.

Niemann-Pick type C disease diagnosed in adult neurology departments may be infantile or juvenile forms with prolonged life span or forms starting at adolescence or adulthood. The evolution is generally slower compared to the infantile cases. Psychomotor retardation is practically constant. Cerebellar ataxia and extrapyramidal manifestations are often found in opposition to pyramidal symptoms. Supranuclear ophthalmoplegia with a down-gaze failure is nearly constant. Cataplexy and other types of seizures may be found during the evolution of the disease. In some cases a psychosis may be the only manifestation for several years; the treatment by psychotropic drugs raises the question of a superimposition of a drug-induced lipidosis. Hepatosplenomegaly is often discrete, contrary to infantile cases. Foam cells or sea-blue histiocytes are a general feature of the disease. Although the primary defect is unknown, diagnosis must be confirmed by the defect in cholesterol esterification from exogenous cholesterol.

Cerebellar Ataxia↗
PubMed1991

[From muscle to central nervous system: birth and future of the mitochondrial encephalomyopathy concept].

The various types of ophthalmoplegia described in the second half of the 19th century were attributed to degeneration of the oculomotor nuclei. In the middle of the 20th century, a reversal of opinions ascribed these disorders to a primary muscle lesion, and this was accepted as a dogma for 20 years. However, the finding of mitochondrial abnormalities, not only in muscles but also in the nervous system and in a variety of viscera, gradually led to the concept of a multiple system syndrome. Advances in biochemistry then revealed multiple alterations of the mitochondrial function, especially in the respiratory chain, and ultimately the concept of mitochondrial heredity was developed by molecular biology. At present, two approaches are possible. Those who opt for the first one consider that a large number of muscular, nervous, endocrine, cardiac, hepatic or renal abnormalities have as common substrate a disease of mitochondria producing unclassifiable biochemical abnormalities. Partisans of the second approach individualize, for clinical and genetic reasons, several autonomous syndromes, the best known of which is Kearns-Sayre syndrome. In any case, this evolution of concepts illustrates an advance in medicine: the starting point was a localized muscle lesion, while the end-point is a complex, multiple system dysfunction which, analyzed with increasingly greater precision, gives a glimpse of future therapeutic applications.

Central Nervous System Diseases↗
PubMed1991

[Type C Niemann-Pick disease: supranuclear ophthalmoplegia associated with deficient biosynthesis of cholesterol esters].

We report a familial case of Niemann-Pick disease type C which lasted until adulthood, and which had the characteristic deficiency in cholesterol esterification from exogenous cholesterol. A review of the literature was performed concerning cases which were seen in adults and were characterized biochemically. This study showed the frequency of supranuclear ophthalmoplegia affecting essentially vertical movements and convergence and of lipid-laden cells in bone marrow which are often sea-blue histiocytes.

Adolescent↗
PubMed1990

Glial fibrillary acidic protein and beta A4 protein deposits in temporal lobe of aging brain and senile dementia of the Alzheimer type: relation with the cognitive state and with quantitative studies of senile plaques and neurofibrillary tangles.

The aim of this study was to compare brain glial fibrillary acidic protein (GFAP) levels to the modifications of cognitive functions (Blessed test score [BTS]), the density of the main neuropathological lesions (senile plaques [SP] and neurofibrillary tangles [NFT]), and the density of the two main subtypes of beta A4 deposits (classic plaques and diffuse deposits) in a series of patients with normal aging and senile dementia of the Alzheimer type of various degrees of severity. GFAP levels (enzyme-linked immunosorbent assay [ELISA] technique) and the densities of changes were measured in the temporal lobe of 12 women over 75 years of age. Under these conditions, the ELISA assay could determine GFAP in brain homogenates (aqueous-Triton buffer soluble extract) in a range from 2.5 ng to 600 ng per assay. Least affected patients (with a BTS of 19 and over) all ranged below 60 micrograms/mg protein. Most affected patients (with a BTS under 6) ranged above 150 micrograms/mg protein. However, interindividual variations were wide. A significant correlation between the BTS and the amount of GFAP could be found only when using the non parametric test of Spearman. There was a significant positive correlation between the amount of GFAP and the density of 1) SP, 2) NFT both revealed by Bodian's silver stain, and 3) classic beta A4 plaques shown by immunocytochemistry. On the contrary, no correlation was observed with diffuse beta A4 deposits. One case with very large amounts of diffuse beta A4 deposits without SP or NFT showed no associated GFAP reactivity. This suggests that GFAP production is a critical event in the formation of classic SP.

Aged↗
PubMed1990

Human monoclonal IgM with autoantibody activity against two gangliosides (GM1 and GD1b) in a patient with motor neuron syndrome.

Small amounts of oligoclonal immunoglobulins were detected by Western blotting in the serum from a patient with motor neuron syndrome. The prominent one, a monoclonal IgM lambda, reacted strongly with the gangliosides GM1 and GD1b and more weakly with asialo GM1, as shown by immunoenzymatic staining of thin-layer chromatograms of gangliosides, ELISA on purified glycolipid coats and immunoadsorption with purified GM1. Affinity-chromatography with purified GM1 resulted in the purification of monoclonal IgM lambda. This purified IgM and its Fab fragments showed the same pattern of reactivity with gangliosides as that observed with whole serum. Such monoclonal IgM could be responsible for motor neuron diseases in some patients with overt or barely detectable monoclonal gammopathies.

Aged↗
PubMed1990

Endogenous cerebellar soluble lectin and its ligands in central nervous system myelin of quaking and jimpy mutant mice.

The presence of an endogenous 'cerebellar soluble lectin' (CSL) involved in myelin compaction and myelination was analyzed in the dysmyelinating mutant mice quaking and jimpy. The primary defect in these mutations with severe hypomyelination is still unknown in the quaking mutant but results from a single mutation in the proteolipid protein gene in the jimpy mutant. Both immunocytochemical and immunoblotting techniques showed that CSL was not considerably reduced in its expression in the myelin fraction purified from adult quaking mutants. Furthermore, the myelin-associated glycoprotein and an axonal glycoprotein with a relative molecular weight (Mr) of 31 kilodaltons (kDa) were not decreased in quaking mice. This contrasted with several glycoproteins of Mr 23, 18, 16 and 12 kDa which were absent from the purified quaking myelin. In myelin preparations obtained from the jimpy mutant the CSL level was considerably reduced. This defect did not result from a deficient synthesis of CSL. However, as in the quaking mutation low-Mr glycoproteins were lacking. The nature of the low-Mr glycoproteins absent in quaking and jimpy mice is discussed in relation to previous reports on myelin glycoproteins. In the various mutants, due to different primary mutations, a similar absence of myelin compaction was observed, which could be associated with a deficient level of low-Mr glycoproteins. It is thus postulated that these molecules are essential for ensuring myelin compaction as ligands for the endogenous CSL.

Animals↗
PubMed1989

IgM gammopathy and polyneuropathy react with an antigenic glycolipid present in human central nervous system.

An immunological mechanism may be responsible for the peripheral neuropathies associated with the IgM monoclonal gammopathies. Myelin-associated glycoprotein, and sulfated glucuronic acid-glycosphingolipids of the paragloboside type specific of peripheral nervous system (PNS), have been found to be targets for these antibodies. We report here on the presence of a glycolipid antigen present in central nervous system white matter in 7 of 12 patients with IgM monoclonal gammopathy and neuropathy whose IgM reacts also with the specific sulfated glycolipids of PNS. Immunodetection of the antibodies was performed on thin-layer plates after separation of the glycosphingolipids from peripheral nerve and white matter. The lipid antigen had a migration on thin-layer chromatography close to sulfogalactosylceramide but the sulfatide standard did not react with the monoclonal IgM.

Antigens, Surface↗
PubMed1989

Antisera to the ganglioside GM1 do not have anti-myelin or anti-axon activities in vitro.

Four antisera to the ganglioside GM1 were tested for effects on myelin and axons when applied to mouse spinal cord-dorsal root ganglia explant cultures. None of the antisera to GM1 caused myelination inhibition or demyelination, while an antiserum to galactocerebroside caused both. Antisera to GM1 did not inhibit axonal outgrowth or destroy mature outgrowth zone axons, while an antiserum to a rat brain axolemma-enriched fraction did both. These results suggest that antibodies to GM1 do not have significant anti-myelin or anti-axon activity.

Animals↗
PubMed1989

Purified rat brain microvessels exhibit both acid and neutral sphingomyelinase activities.

Purified rat brain microvessels have been shown to hydrolyze radiolabeled sphingomyelin by means of two different enzyme systems. Enzymatic activity was detected at pH 7.4 and was strongly stimulated by magnesium or manganese and inhibited by calcium. Activity at pH 5.1 could also be found and was not dependent on any of these cations. At neutral pH and in the presence of magnesium, the rate of sphingomyelin hydrolysis did not exhibit a linear relationship with protein concentration. In contrast, increasing the protein concentration from 0.05 to 0.5 mg/ml resulted in a constant increase of sphingomyelin hydrolysis at pH 5.1. Kinetic parameters of both neutral and acid activities have been determined and were similar in magnitude to values reported previously for neural sphingomyelinases. This work demonstrates the occurrence of a neutral sphingomyelinase activity in purified rat brain microvessels, an observation raising the question of its role at the level of the blood-brain interface.

Animals↗
PubMed1989

Calmodulin antagonist W-7 inhibits lysosomal sphingomyelinase activity in C6 glioma cells.

N-(6-Aminohexyl)-5-chloro-1-naphthalenesulfonamide (W-7) is known to be a potent calmodulin antagonist and inhibitor of calmodulin-dependent protein kinases. W-7 and 1-(5-isoquinolinyl-sulfonyl)-2-methylpiperazine (H-7) are inhibitors of protein kinase C and cyclic nucleotide-dependent protein kinases. In C6 glioma cells, W-7 and not H-7 inhibited dose-dependently acid sphingomyelinase, a result indicating the modulation of this lysosomal enzyme by a calmodulin-dependent system. Other lysosomal enzymes, such as beta-glucosidase, alpha-galactosidase, and arylsulfatase A, were unaffected by W-7 and H-7, a finding indicating a selective effect of W-7 on sphingomyelinase.

1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine↗
PubMed1989

Myelination and remyelination in the central nervous system by transplanted oligodendrocytes using the shiverer model. Discussion on the remyelinating cell population in adult mammals.

In the early sixties, remyelination was first observed in animal models of demyelination and described a few years later in multiple sclerosis. The spontaneous remyelination process is now well documented. Remyelination by transplantation of myelin-forming cells has been attempted. Transplanted Schwann cells can myelinate a central nervous system lesion but the remyelination is limited to the area of implantation. Oligodendrocytes or precursor cells are much more invasive and have been shown to migrate from the implantation site to the lesion at a distance of several millimeters. Thus, remyelination by transplantation of myelin-forming cells is possible at least in animal models, the oligodendrocytes being more efficient.

Animals↗
PubMed1988

Remyelination by transplanted oligodendrocytes of a demyelinated lesion in the spinal cord of the adult shiverer mouse.

Fragments of normal newborn mouse central nervous system (CNS) were transplanted into the spinal cord of adult shiverer mice at distance of 1, 2 or 3 intervertebral spaces from a lysolecithin-induced demyelinating lesion. Remyelination by grafted oligodendrocytes was observed by electron microscopy (EM). This result showed the capability of grafted oligodendrocytes or precursor cells to migrate to a demyelinated lesion and to remyelinate naked axons in an adult host, even in presence of host spontaneous remyelination.

Animals↗
PubMed1988

Acidic sphingomyelinase: relationship with antidepressant-induced desensitization of beta-adrenoceptors.

Previous results indicate a dose-dependent decrease of lysosomal sphingomyelinase activity induced by tricyclic antidepressants in cell cultures. A possible association of this effect with the antidepressant-induced down-regulation of beta-adrenoceptors was postulated. We report here the determination of beta-adrenoceptor binding sites and lysosomal sphingomyelinase activity in the cerebral cortex of rats treated chronically with desipramine or with the potential antidepressant drug midalcipran (which is devoid of effect on beta-adrenoceptors). The effect of midalcipran on lysosomal sphingomyelinase activity was also determined on C6 glioma cells. In C6 glioma cells, midalcipran did not decrease sphingomyelinase activity, at variance with the enzymatic inhibition induced by desipramine (DMI). In the rat cerebral cortex, neither DMI nor midalcipran modified sphingomyelinase activity. In agreement with previously reported effects, DMI induced beta-adrenoceptor desensitization in the rat cerebral cortex, while midalcipran remained ineffective. Our results indicate that in the rat cerebral cortex, the activity of lysosomal sphingomyelinase is not modulated by chronic treatment with antidepressant drugs, whatever their effect on beta-adrenoceptor sites. Our results suggest that sphingomyelinase activity is not associated with the desensitization of beta-adrenoceptors, taken as an index of the therapeutic action of antidepressants. The results indicate that care should be taken when extrapolating to in vivo situations the conclusions derived from cell culture conditions.

Animals↗