Biomedical subjects
Publications and source records attributed to J C Turpin.
Segregation studies of X-linked adrenoleukodystrophy (ALD) and a cloned desoxyribonucleic fragment (factor VIII gene), which detects polymorphism in the distal end of the long arm of the X chromosome (Xq28), are reported in a large sibship ALD family. The findings should permit better identification of carriers and add a new marker for identifying the ALD gene itself.
Comparative study 100 MS patients with CSF pleiocytosis (greater than 2 cell/mm3) and 100 MS patients with normal cell count in CSF (less than 2 cells/mm3), showed that the pleiocytosis is not a severity index. Pleiocytosis was observed in recent MS disease occurring in young adult patients.
Results of DNA analysis in 8 patients with type I amyloid neuropathy (ANI) are reported. A direct link exists between the mutated gene of the prealbumin and the ANI. Carriers of the gene mutating for prealbumin were identified. Autoradiographs after hybridization with a prealbumin probe allowed detection of children who will develop the disease. The molecular probe used was developed for the Japanese form of NAI and allowed affirmation of the identical nature of the neuropathy identified by Araki in Kiu-Shiu and the Portuguese form of Porto.
Seven families were studied to evaluate the influence of genetic factors in MS and its transmissibility. The disease was associated with some B7 and/or DR2 alleles in relation to the susceptibility gene in all but one case. This association was always transmissible conjointly. The carrier haplotype conditions disease manifestations and its prognosis, favorable in this series, but it is not sufficient to promote the onset of the disease. This requires a triggering factor with sometimes disorders affecting 3 generations as demonstrated by the analysis of one family. Therefore there is not a genic heredity but a predisposition heredity. Possible associations of MS with other morbid states such as insulin-dependent diabetes must be considered when counselling families.
We report a case of adult adrenoleukodystrophy. The patient, originating from North Africa, had no clinical history until age 23. The first disorder, a spastic paraparesis, occurred after a 5 days coma following a cranial traumatism. The course of the disease was then progressive remitting and the patient died at age 30. Total duration was 7 years. The diagnosis of A.L.D. was ascertained by the determination of excessive very long chain fatty acid level in plasma. Endocrinological study revealed adrenal insufficiency but darkening of the skin was masked by racial pigmentation. The patient was the oldest of 10 children. 3 of the brothers died of childhood A.L.D. around the age of 12 after a progressive 2 years course. The mother and 2 asymptomatic brothers have increased plasma levels of hexacosanoic acid and A.C.T.H. The particularity of this adult case is the lack of spinal demyelination. Pathological studies revealed a widespread cerebral demyelination with an inflammatory process. The features of this case are compared to those of the 13 other reported cases of adult A.L.D.
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Perhexiline maleate is an amphiphilic molecule. Along with many other drugs it is responsible for experimental and, in some instances, clinical lipidoses. Sphingomyelinase deficiency has been evidenced in cell cultures incubated with perhexiline maleate. We describe the occurrence of a similar defect in a patient. The disturbances in the phospholipid turnover which are responsible for the thesaurismosis may originate in the sphingomyelinase deficiency.
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We performed a lipid analysis on nerve biopsy specimens in two cases of degenerative hypertrophic neuropathy. Quantitative analysis of the major lipid classes, ie, cholesterol, cerebrosides, sulfatides, ethanolamine phospholipids, phosphatidyl-choline, phosphatidyl-serine, phosphatidyl-inositol, sphingomyelin, and gangliosides, were performed. The two cases exhibited extreme decreases in levels of lipids that could be related to the very low myelin content of these nerves. Cholesterol and phospholipid levels were especially reduced. Cerebrosides and sulfatides were not modified in the same proportion, as could have been predicted from the degree of demyelination. This relative glycolipid increase could be due to the very high Schwann cell proliferation.
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It is necessary to think about the frequency of mistakes made at term as well as about the rare case of antenatal microcephaly when confronted with an abnormally small biparietal diameter. The authors, when confronted on twelve occasions with the problem of antenatal microcephaly, classified two situations: the discovery from systematic screening of a break in the growth of the cranial diameters. In the case of overall growth retardation of the fetus it becomes necessary to carryout amniocentesis to look for associated chromosome abnormality (two out of twelve cases); ultrasound monitoring of a pregnancy in the woman who has previously delivered a microcephalic infant in order to diagnose a possible recurrence of the condition (three out of the twelve cases). Furthermore the authors point out tha there are limits to the method. Ultrasound is only a complementary examination and the results obtained should be studied critically, confirmed by repeated examinations and integrate into the whole clinical picture. Finally, it is not always possible to differentiate between the normal and the abnormal by ultrasound. In borderline cases ultrasound has the advantage that it can point out the need for extra careful post-natal examination of the infant.
The ganglioside content and composition in human neuroblastomas was examined. The densitometric pattern corresponding to the thin-layer chromatography of gangliosides showed no major differences compared to normal brain in the GT area, and variable modifications for GM1 and GD3. The most striking and common features resided in the area corresponding to the disialogangliosides for which is was clear that existed a far more complex pattern than normal human brain.
Glial Fibrillary Acidic Protein (G.F.A.P.) is characteristic of astrocytes. Its estimation in a tumour fragment removed surgically may be used to confirm whether or not a cerebral tumour is glial in nature. This was confirmed here by study of 6 cases. G.F.A.P. levels were normal only in the 2 patients whose cerebral tumours were not glial. It remains to be determined whether this estimation may be used to define a particular treatment or prognosis.
We report a statistical study on the level of aryl-sulfatases A and B in leukocytes of 106 controls, 19 cases of metachromatic leukodystrophy (MLD) infantile and juvenile forms and 25 obligate heterozygotes for MLD. Arylsulfatase A has been found to be similarly deficient in patients of the two forms. Half of the mean of the controls have been found in both types for heterozygotes. Arylsulfatase B (ASB) is slightly higher than normal in late infantile MLD although it is not statistically significant. In the 5 cases of the juvenile forms that were examined, ASB was found to be significantly reduced. This enzyme may play a role in relation to the onset of the disease.
We report here the results of a simple and reproducible technique which can be used in semi-routine analysis of peripheral nerve biopsy specimens, so as to have a quantitative analysis of the major lipid classes, i.e. cholesterol, cerebrosides, ethanolamine phospholipids, phosphatidyl-choline, phosphatidyl-serine + phosphatidylinositol, sphingomyelin and gangliosides. Glycolipid hexoses, cholesterol and total phospholipids have been compared in different age groups. Although all lipid classes increased from the younger to the older age group, the molar ratio of cholesterol to phospholipid differed less than the glycolipid to phospholipid ratio. Both increased significantly, even between age group 10--16 and older patients (36, 54, 61, 68, 72 and 73 years old). Although individual variations in lipid content are noteworthy, it must be emphasized that evolution with age of the lipid composition must be taken into account. Furthermore, this study confirms and extends earlier findings of increased ganglioside levels in some cases of peripheral neuropathies observed during perhexiline maleate therapy where characteristic lipid-like polymorphous inclusions have been demonstrated.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.