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Biomedical subjects

E Andermann

Publications and source records attributed to E Andermann.

At least 127 records · Page 7Linked to original sources
PubMed1988

Encephalitis among Cree children in northern Quebec.

We report a neurological disease among Cree Indian children in a northern Quebec village. The disease manifests as severe mental retardation, cerebral atrophy with white matter changes and calcifications, and systemic immunological abnormalities. Eleven cases are known in five families. The familial incidence of cases and the high degree of parental consanguinity suggest a genetic contribution. We propose that this entity may be caused by an unusual viral infection in a genetically vulnerable host.

Adolescent↗
PubMed1988

Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba.

We report 14 cases of a severe familial leukoencephalopathy among native North American Indian infants in northern Quebec and Manitoba. Affected infants have hypotonia and mild motor delay, followed by seizures, hypotonia or spasticity, eye deviation, and abnormal posture during a febrile illness around 6 months of age. Death follows a rigid, vegetative state that manifests days to months after disease onset and is marked in some cases by prominent autonomic disturbances, blindness, and cessation of head growth. Symmetrical hemispheric white matter lucencies and diffuse hypomyelination of the cerebral hemispheres and brainstem are the radiological and pathological hallmarks. This disease differs from the known diseases of cerebral myelin. An autosomal recessive pattern of inheritance awaits statistical confirmation. The proposed cause is a delay in development or abnormal turnover of central nervous system myelin.

Brain↗
PubMed1988

Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.

We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both the horizontal and vertical planes. Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and none of the patients had evidence of multisystemic involvement. Specifically, there was no tendency to frequent infections, and immunoglobulins, alpha-fetoprotein, T- and B-lymphocyte markers, and chromosomes 7 and 14 were normal in all tested patients. The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia-telangiectasia an unlikely diagnosis. We suggest that these patients suffer from an unusual type of spinocerebellar degeneration. This syndrome has been observed in different populations from three continents, with a genetic pattern suggesting recessive autosomal inheritance.

Adolescent↗
PubMed1988

Kufs' disease: a critical reappraisal.

A review of 118 cases published as Kufs' disease revealed only 50 cases, including 2 patients described herein, that fulfilled our criteria for this diagnosis. Of the other 68 cases, 16 had inadequate data for analysis, 21 had evidence of a storage disease other than Kufs' disease, 10 did not have clear evidence of any neuronal storage, and 21 had atypical clinical features considered outside the spectrum of Kufs' disease. The 50 cases accepted as Kufs' disease comprised two clinical phenotypes; progressive myoclonus epilepsy (Type A) and dementia with motor disturbances (Type B). Marked photosensitivity was a striking feature of some Type A cases, and facial dyskinesias were common amongst Type B patients. Onset was typically at around the age of 30 years. A few cases began in adolescence; these differ from the protracted juvenile form of neuronal ceroid-lipofuscinosis by the absence of visual failure. Demonstration of fingerprint profiles or granular osmiophilic deposits by electron microscopy is mandatory for definitive diagnosis. Urinary sediment dolichol levels were markedly elevated in our 2 cases. This biochemical finding confirms the relationship of Kufs' disease to the early forms of neuronal ceroid-lipofuscinosis and is consistent with our hypothesis that these diseases are due to defects in the intracellular processing of lysosomal and related membranes.

Adult↗
PubMed1988

Familial myopathy with changes resembling inclusion body myositis and periventricular leucoencephalopathy. A new syndrome.

Five of 6 male siblings were affected by a progressive myopathy beginning in early childhood. Muscle biopsies in all patients showed the characteristic changes of inclusion body myositis. Computerized tomography and magnetic resonance imaging revealed a markedly abnormal appearance of cerebral white matter in the 4 affected patients tested, but clinical and other laboratory examinations failed to demonstrate evidence of central white matter dysfunction. Muscle biopsies and brain imaging were normal in all clinically unaffected family members. On the basis of the genetics, muscle biopsy findings and cerebral white matter changes, we conclude that this constellation represents a hitherto undescribed syndrome.

Adult↗
PubMed1988

Immunological studies in focal epilepsy.

Serum immunoglobulins, T-lymphocyte subsets and HLA investigations were carried out in 24 patients with focal, mainly temporal lobe, epilepsy and in 30 of their first degree relatives. The mean serum level of IgA was significantly decreased in the epileptic probands compared with controls. In the relatives, there was a significant decrease in mean IgM levels. The epileptic group had significantly fewer circulating T4 "helper" lymphocytes (absolute and percent) and an increased percentage of T8 "cytotoxic"/"suppressor" lymphocytes than the controls. The effect of antiepileptic drug treatment on these results is discussed. The frequencies of 63 HLA specificities determined were not significantly different in probands compared with controls. Among 5 of the most commonly occurring haplotypes there was a lower frequency of the haplotype A1,B8 in epileptic probands, which is in accordance with an earlier study on benign focal epilepsy in children. The immunological findings support the possibility that focal epilepsy may be linked to a genetically dependent immune dysregulation. The latter may contribute to the variability underlying the multifactorial inheritance of the epilepsies.

Adolescent↗
PubMed1988

Excitatory amino acids are elevated in human epileptic cerebral cortex.

We used intraoperative electrocorticography to identify and compare specimens from two groups of patients undergoing temporal lobectomy: (1) spiking cortex (12 patients)--epileptic activity recorded over much of the temporal convexity; and (2) nonspiking cortex (9 patients)--temporal convexity free of interictal spiking, epileptic activity confined to the hippocampus and/or amygdala. Comparative amino acid levels were (mumol/g protein, mean +/- SEM): glutamate--spiking 109.8 +/- 1.8, nonspiking 87.4 +/- 2.0 (p less than 0.001); aspartate--spiking 15.2 +/- 0.9, nonspiking 12.2 +/- 0.5 (p less than 0.05); GABA--spiking 15.0 +/- 1.0, nonspiking 13.9 +/- 1.4 (NS); taurine--spiking 14.5 +/- 0.8, nonspiking 12.2 +/- 0.8 (NS); and glycine--spiking 11.5 +/- 0.8, nonspiking 7.4 +/- 0.6 (p less than 0.01). Cortical epileptic activity appears to be associated with elevated concentrations of glutamate, aspartate, and glycine, but not GABA and taurine, perhaps indicating a relative imbalance between putative excitatory and inhibitory amino acid neurotransmitters.

Adolescent↗
PubMed1987

Anticonvulsants, folate levels, and pregnancy outcome: a prospective study.

Folate levels in serum and red cells, as determined by a microbiological assay using Lactobacillus casei, and plasma anticonvulsant concentrations were monitored concurrently in nonpregnant (50 subjects) and pregnant (49 pregnancies in 46 subjects) epileptic women. Twenty-three (46%) nonpregnant women had subnormal serum folate levels and 4 nonpregnant women (8%) showed subnormal red cell folate levels. In pregnant women not taking folate supplements, the incidence of folate deficiency increased as the pregnancy advanced. Pregnant women taking folate supplements achieved normal or supranormal blood folate concentrations. In both nonpregnant and pregnant women, serum and red cell folate levels were inversely correlated with plasma concentrations of phenytoin and of phenobarbital, and with the number of anticonvulsants. In 49 pregnancies, there were 10 abnormal outcomes (20.4%): 4 spontaneous abortions (8.2%) and 6 children with major congenital malformations (12.2%). Blood folate levels were significantly lower in pregnancies with an abnormal outcome than in those with a normal outcome. The results suggest a dose-response relationship among anticonvulsants, folate, and adverse pregnancy outcome.

Abnormalities, Drug-Induced↗
PubMed1987

Pedigree discriminant analysis of two French Canadian Tay-Sachs families.

Two French Canadian families among whom the Tay-Sachs allele is segregating are analyzed to investigate whether there is residual phenotypic familial covariation over and above that from major gene segregation. The traits analyzed are functions of hexosaminidase A (HEXA) and hexosaminidase B (HEXB) levels, and a combination of segregation and discriminant analysis is used to find a function of HEXA and HEXB levels to discriminate between carriers and noncarriers in this French Canadian population. We found that residual familial covariation is significant for the ratio HEXA/(HEXA + HEXB), the statistic generally used to determine if an individual is likely to be a carrier of the Tay-Sachs allele in Ashkenazi Jewish populations. This suggests that the ratio may not be appropriate for the French Canadian group and that the mutation may be different from that in Ashkenazi Jews. A linear function is calculated that gives improved discrimination between carriers and noncarriers for the two French Canadian pedigrees studied.

Female↗
PubMed1987

Concepts of absence epilepsies: discrete syndromes or biological continuum?

There are two current approaches to the clinical conceptualization of the generalized epilepsies. The syndromic approach attempts to subdivide the patient population into relatively homogeneous groups, largely on the basis of clinical and EEG criteria. In contrast, the neurobiological approach aims to formulate a unique profile for each patient by incorporating particulars of the patient onto the background of knowledge regarding the etiologic factors important in generalized epilepsy. The value of these two approaches is discussed with regard to the dual aims of, first, improving the understanding of generalized epilepsy, and second, providing a precise diagnosis, an accurate prognosis, and optimal treatment for the patient.

Adolescent↗
PubMed1986

Urinary sediment dolichols in the diagnosis of neuronal ceroid-lipofuscinosis.

Long-chain polyisoprenol alcohol (dolichols) levels are significantly increased in the urinary sediment of patients with infantile, late-infantile, and juvenile forms of neuronal ceroid-lipofuscinosis (NCL). The values in obligate heterozygotes for these diseases are similar to those in patients with other neurological diseases and in healthy controls. Antioxidant treatment of patients with juvenile NCL has no effect on dolichol values. The rate of false-negative results is 13.9% in infantile, 7.5% in late-infantile, and 15.0% in juvenile NCL. False-positive results were found in 8.2 to 14.3% of patients with other neurological diseases and in 15.4% of healthy controls. The test is of considerable value in the diagnosis of NCL and in decisions on whether to perform a biopsy. It is not useful in the screening of random samples, however.

Adolescent↗
PubMed1986

Glucose intolerance in Friedreich's ataxia: association with insulin resistance and decreased insulin binding.

Friedreich's Ataxia (FA) is a neurologic disorder associated with a high prevalence of diabetes mellitus. To assess insulin secretion and insulin resistance, glucose and insulin responses to oral glucose and insulin binding to circulating monocytes and dextran gradient fractionated and unfractionated red blood cells (RBCs) were compared in 11 subjects with FA to 11 age-matched controls. Glucose and insulin responses were elevated from one to three hours after oral glucose in FA. The mean corrected insulin responses were not different while peripheral insulin activity (A) was significantly decreased (1.38 +/- 0.22 v 0.77 +/- 0.16, control v FA, P less than 0.025) indicating the presence of insulin resistance. A significant correlation between the degree of insulin resistance (A) and duration of neurologic symptoms was found (r = .65. P less than 0.025). Resistance to exogenous insulin was confirmed in ten subjects with FA by intravenous insulin tolerance tests (KITT, %/min, 6.25 +/- 0.90 v 3.93 +/- 0.61, P less than .05). Both FA and control groups showed highest insulin binding to fraction A (youngest) RBCs, but no difference was observed between the two groups. However, insulin binding to monocytes was significantly decreased in subjects with FA (% specific binding/10(7) cells/mL, 6.37 +/- 0.71 v 4.51 +/- 0.39, P less than 0.05, control v FA). This was associated with a decrease in apparent receptor affinity. We conclude that FA is associated with insulin resistance, which increases with the duration of neurologic impairment. The insulin binding to monocytes suggests that the insulin resistance may be partially explained by a receptor defect.

Adolescent↗
PubMed1986

Immunological and genetic studies in primary generalized corticoreticular epilepsy.

Serum immunoglobulin and HLA investigations were carried out in 21 probands with primary generalized corticoreticular epilepsy (PGCE) and in 26 of their first degree relatives. The mean serum levels of IgG, IgA and IgM in the epileptic probands were not significantly different from controls. In the relatives, however, the mean serum levels of IgA and IgM were significantly decreased as compared to controls. With respect to HLA investigations, the frequencies of 63 HLA specificities determined and of 5 most commonly occurring haplotypes were not significantly different in the experimental groups as compared to controls. These findings are in agreement with a previous HLA investigation of PGCE but are in contrast with a similar study of partial epilepsy. It is suggested that the contrasting HLA findings between PGCE and partial epilepsy may reflect underlying differences in the etiology of these disorders.

Adolescent↗
PubMed1985

Genetic predisposition to phenytoin-induced birth defects.

To find out whether arene oxide metabolites of phenytoin and a genetic defect in arene oxide detoxification contribute to susceptibility to phenytoin-induced birth defects, lymphocytes from 24 children exposed to phenytoin throughout gestation and from their families were challenged in a blind protocol with phenytoin metabolites generated by a murine hepatic microsomal drug-metabolising system. 14 of the children had a "positive" assay result--ie, a significant increase in cell death associated with phenytoin metabolites. Each child with a positive result had one parent whose cells also were positive. A positive in-vitro challenge was highly correlated with major birth defects, including congenital heart disease, cleft lip/palate, microcephaly, and major genitourinary, eye, and limb defects. There was no difference between children with positive and negative results in the number or distribution of minor birth defects, including stigmata of the fetal hydantoin syndrome. Although many factors contribute to the outcome of pregnancies in epileptic women treated with phenytoin, a genetic defect in arene oxide detoxification seems to increase the risk of the baby having major birth defects.

Abnormalities, Multiple↗
PubMed1985

Thyroid function in epileptic mothers and their infants at birth.

It has been suggested that patients receiving anticonvulsant therapy have depressed thyroid function. Thyroid function was studied in 16 pregnant epileptic women who were receiving various anticonvulsants; 20 nonepileptic pregnant women served as controls. Maternal and umbilical cord blood was collected at delivery and serum thyrotropin, total thyroxine, triiodothyronine, triiodothyronine resin uptake, and free thyroxine levels were measured. The free thyroxine index was calculated from the thyroxine and triiodothyronine resin uptake data. There were no significant differences in any of the maternal parameters. In cord serum, the thyroxine level was significantly lower (p less than 0.001) in the infants of the epileptic mothers. The triiodothyronine resin uptake was slightly increased in the epileptic group (p less than 0.05) so that the free thyroxine index largely compensated for this. The thyrotropin, free thyroxine, and triiodothyronine levels did not differ between the two groups. Thus the low thyroxine values in cord blood of infants of epileptic mothers receiving anticonvulsants probably reflect an alteration in protein binding rather than a true alteration in thyroid function.

Anticonvulsants↗