Biomedical subjects

H Doose

Publications and source records attributed to H Doose.

At least 37 records · Page 2Linked to original sources

PubMed1992

Myoclonic-astatic epilepsy.

Myoclonic-astatic epilepsy (MAE) belongs to the group of epilepsies with primarily generalized seizures as absence epilepsies, and juvenile myoclonic epilepsy, as well as infantile and juvenile idiopathic epilepsy with generalized tonic-clonic seizures. Like these types of epilepsy, MAE is polygenically determined with little non-genetic variability. The disease is characterized by the following criteria: genetic predisposition (high incidence of seizures and/or genetic EEG patterns in relatives); mostly normal development and no neurological deficits before onset; primarily generalized myoclonic, astatic or myoclonic-astatic seizures, short absences and mostly generalized tonic-clonic seizures; no tonic seizures or tonic drop attacks during daytime (except for some rare cases with a most unfavourable course); generalized EEG patterns (spikes and waves, photosensitivity, 4-7/sec rhythms), no multifocal EEG abnormalities (but often pseudofoci). There is a partial overlap with other 'syndromes', such as benign and severe myoclonic epilepsy in infants (Dravet et al., 1985a, b), myoclonic epilepsy of infancy and early childhood (Aicardi and others). In differential diagnosis the Lennox-Gastaut syndrome in its stricter sense has to be considered, and also atypical benign partial epilepsy or pseudo-Lennox syndrome. Discussion is presented of possible pitfalls in the classical syndromic approach to classifying epilepsies of early childhood, and of the advantages of a neurobiological view for understanding the immense variability of clinical manifestations of epilepsy.

Brain Mapping↗

PubMed1992

[Pathogenesis of epilepsy in childhood and adolescence].

After a short discussion of the basic mechanisms of epileptic reactions, the conditions for epileptrogenesis are reviewed. As demonstrated by studies in animal models, distinctive structural and neurochemical characteristics of the brain tissue, probably genetically determined, build a main precondition for seizure manifestation. Starting from these basic concepts, the multifactorial pathogenesis of human epilepsy is discussed with special regard to genetic factors. The seizure liability results from the interaction of several independently transmitted genetic and lesional factors. None of these traits are epileptogenic by themselves, but effective only in interaction with other pathogenetic factors. Genetically determined "normal" structural and functional properties of the brain, e.g. expressed by generalized alpha rhythm, are involved in the complex pathogenesis of epilepsy. From a neurobiological point of view, epilepsy is always a multifactorially determined disease. The nowadays usual separation of idiopathic and symptomatic types of epilepsy may be helpful for communication in daily practice, but represents a simplification under pathogenetic aspects.

Adolescent↗

PubMed1991

A genetically determined basic mechanism in benign partial epilepsies and related non-convulsive conditions.

The classification of benign partial epilepsies and related conditions includes (besides rolandic epilepsy) atypical benign partial epilepsy, bioelectrical status epilepticus and a variety of other syndromes. The broad overlap of the clinical and bioelectrical symptomatology might reflect a pathogenetic background common to these epilepsies. In order to understand the great phenotypic variability, the clinical symptomatology in 51 sibships with focal sharp waves of genetic origin was analyzed. A genetic determination was assumed if in addition to the index case at least one sib or offspring revealed typical focal sharp waves. The 51 index-cases and their 57 sibs/offspring showed a broad spectrum of epileptic and non-epileptic conditions ranging from mild selective performance deficits to severe complex psychomental retardation, from simple rolandic epilepsy to severe epilepsies with minor seizures or bioelectrical status. The different conditions are not disease entities but sets of variably weighted symptoms of a complex pathogenetic background, in which a genetic disposition to focal anomalies of brain function is of decisive importance. As can be demonstrated by the data, this genetic 'focal liability' coincides with other widespread genetic traits, expressed in certain EEG patterns, as well as with lesional pathogenetic factors. The biological background of the genetic focal anomaly is unknown up to date. The marked age dependence of the symptoms justifies the assumption of an hereditary impairment of brain maturation.

Child↗

PubMed1989

Benign partial epilepsy and related conditions: multifactorial pathogenesis with hereditary impairment of brain maturation.

The main clinical and bioelectrical features of the benign partial epilepsies and related conditions are described. Based on highly selected groups, the definition of these suggested syndromes disregards the considerable overlap between borderline and intermediate cases. To understand the great phenotypic variability of these epilepsies, the complexity of causal especially genetic factors must be considered. Different genetic traits, expressed in certain EEG patterns, determine the level of cerebral excitability. These hereditary variables are widespread in the general population. Most are polygenic, focal sharp waves possibly autosomal dominant. In individuals, the coincidence of different traits with little or no clinical significance, results in additive effects lowering the seizure threshold and raising the risk of clinical manifestation. The complexity of causal factors, which, potentially include organic brain lesions, account for the wide spectrum of epileptic and non-epileptic conditions ranging from mild selective performance deficits to complex psychomental retardation, and from simple rolandic epilepsy to severe epilepsies with minor seizures or bioelectrical status. These conditions are not "syndromes" in the stricter sense, but sets of variably weighted symptoms of a complex pathogenetic background. A genetic disposition to focal pathogenetic background. A genetic disposition to focal anomalies of brain function is of decisive importance. The biological background is as of yet unknown. The marked age-dependency of symptoms and almost regular disappearance of seizures and EEG abnormalities at puberty justify the assumption of an hereditary impairment of brain maturation. The hypothesis of autosomal dominant inheritance awaits appraisal by studies of larger populations and quantitative genetic approaches.

Adolescent↗

PubMed1989

Symptomatology in children with focal sharp waves of genetic origin.

The purpose of the study was to identify the clinical symptomatology of children with focal sharp waves of genetic nature. Genetic determination was assumed if the EEG of at least one sib revealed typical focal sharp waves. Forty-one probands (27 boys, 14 girls) and their 44 sibs showed a broad spectrum of different seizure types of focal origin including so-called atypical benign partial epilepsy (pseudo-Lennox-syndrome) and febrile convulsions. Numerous cases showed psychomental retardation or selective deficits of development. The classical syndrome of rolandic seizures with normal psychomental development and normal neurological findings was present in only a few cases. Similarly, EEG findings were quite variable. Rolandic sharp wave foci alone were found in only 22% of the probands. The remainder had foci in other regions (17%), or multiple foci (61%). Depending on age at first seizure, 42%-79% of the seizure-affected probands and 50% of the affected sibs showed generalized heritable EEG traits such as 4-7/s rhythms, generalized irregular spikes and waves, and/or photoparoxysmal response. Three pairs of monozygotic twins were concordant for the special type of EEG findings, two of them also for clinical symptoms.

Child↗

PubMed1989

Genetic aspects of childhood epilepsy.

The extensive studies pertinent to these problems cannot be elaborated here. We have restricted ourselves to a few representative concepts, which can be summarized as follows. The genetic aspects of convulsibility and epilepsy are highly complex phenomena. The level of convulsibility is determined by a number of different excitatory (and inhibitory) genetic factors. None of these factors is strictly specific to epilepsy. Each one is only a partial aspect of a complex genetic constitution which is strikingly common in perfectly healthy individuals, and which is related to a variety of psychic and somatic particularities. Almost all of these genetic factors seem to be polygenetically determined; in other words, they seem to reflect the actions of many genes. An increased liability to convulsions, and, finally, to epilepsy, is induced by an accumulation of these factorial sets, and, of course, by the effects of exogenous lesional factors. Special constellation of these polygenic sets may lead to the manifestation of different epileptic syndromes and may also explain the segregation of seizure types in the descendants of patients with seemingly uniform epileptic syndromes, as observed, for instance, in absence epilepsy and in juvenile myoclonic epilepsy.

Child↗

PubMed1988

Theta rhythms in the EEG: a genetic trait in childhood epilepsy.

Rhythmic theta activity maximally expressed in the parietobasal leads is a characteristic interictal EEG pattern in infants and children with primarily generalized "corticoreticular" seizures, including febrile convulsions. It is a strictly age-dependent electroencephalographic expression of a widespread genetic disposition to convulsions. If it coincides with photosensitivity, it leads to a considerable risk of spikes and waves. As epidemiological and family studies have shown, it is most likely polygenically determined and genetically independent of both photosensitivity and focal sharp waves. In epileptic patients the persisting expression of parietal theta rhythms beyond childhood bears prognostic significance. As one among many factors the "theta trait" is of importance in the "multifactorial" pathogenesis of epilepsy.

Adolescent↗

PubMed1988

Bromides were effective in intractable epilepsy with generalized tonic-clonic seizures and onset in early childhood.

Thirty-six children with epilepsy resistant to conventional treatment were treated with bromides in addition to the current therapy. Six out of 19 cases with prevailingly or exclusively generalized tonic-clonic seizures became seizure-free and in 9 cases a reduction in seizure frequency of more than 50% was achieved. Freedom from seizures could not be obtained in 13 cases, who had frequent minor seizures in addition to generalized tonic-clonic seizures. In some, minor seizures were even activated. Tonic and focal seizures showed no response. Side effects were observed in one-third of the cases (acne, loss of appetite, loss of weight, fatigue) but in no case they did become intolerable. Fifty to 80 mg potassium bromide per kg body weight seems to be an effective daily dose range. There is a preferential indication of bromides for patients suffering from early onset epilepsy with generalized tonic-clonic seizures and/or alternating hemi-grand mal, for whom other treatment is ineffective. This disorder is characterized by a high familial incidence of epileptic seizures, onset between 6 months and 3 years of age, normal development until the onset of seizures, generalized tonic-clonic seizures and often alternating hemi-grand mal, seizure precipitation by fever, and occasional combination with or transition to myoclonic-astatic and/or myoclonic seizures. EEG is often normal or shows slight slowing in the initial phase; later it shows theta rhythms and generalized spikes and waves. Especially, if the onset is during the first year of life, the course of the epilepsy is often unfavourable.

Adolescent↗

PubMed1988

Benign partial epilepsy--treatment with sulthiame.

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Adolescent↗

PubMed1987

Epilepsy with primarily generalized myoclonic-astatic seizures: a genetically determined disease.

This paper presents case reports of patients suffering from myoclonic-astatic and stimulus-sensitive myoclonic seizures, respectively. It gives details of clinical and EEG data in the pertinent families. This is discussed in the context of controversial nosographic concepts of epilepsies with myoclonic seizures, and of the results of extensive family investigations. The findings demonstrate the decisive importance of hereditary factors in the pathogenesis of myoclonic and myoclonic-astatic epilepsy, the genetic background of which is probably polygenic.

Child, Preschool↗

PubMed1987

Interdependence of different genetic EEG patterns in siblings of epileptic patients.

The present study is based on the data of a more extensive investigation of the genetics of spike-wave epilepsies of childhood with minor seizures (Doose and Baier 1987). It evaluated EEG findings in 271 siblings of patients by means of log-linear methods. The risk of siblings to manifest spikes and waves during rest or hyperventilation is distinctly increased if they are positive for 4-7 Hz rhythms, and to a lesser degree, if they are photosensitive. Moreover, siblings of female patients seem to be at a higher risk of manifest spikes and waves than siblings of males. 4-7 Hz rhythms of the EEG background activity and photosensitivity are mutually independent symptoms of an increased liability to manifest spikes and waves. These findings are discussed in the context of a 'multifactorial' background of spikes and waves.

Adolescent↗

PubMed1987

Tuberous sclerosis: magnetic imaging of the brain.

The results of the magnetic resonance imaging of three patients with proven tuberous sclerosis will be discussed. Cortical tubers and subcortical areas of junctional dysmyelination can be demonstrated clearly by MRI, whereas small calcifications may be missed because of low contrast if the chosen slice thickness should be too large. It is suggested that MRI should be applied to those patients with suspected tuberous sclerosis, in which CT has failed to demonstrate typical subependymal calcifications and to those in which doubts about the definite diagnosis remain. This should be done in order to improve the accuracy of genetic counselling. It may be argued that all patients with tuberous sclerosis have to be referred to MRI, because transformation of subependymal nodules into diffusely infiltrating gliomas can be detected earlier if comparison with a former MRI study is possible.

Adult↗

PubMed1986

Genetic EEG patterns in febrile convulsions--a multivariate analysis.

Genetically determined EEG patterns being found during a longterm follow-up of children with febrile convulsions are subjected to a multivariate statistical analysis. The study is mainly concerned with the examination of interrelationships between spikes and waves, theta-rhythms, and photosensitivity. The three patterns form two-categorial variables (occurrence yes, no) and enter a three-way contingency table. Associations between the variables are examined by fitting a log-linear model to the data. Three effects in the structure of the contingency table are statistically significant: the main effect of theta-rhythms which are relatively frequent in the group, and the two-variable-interactions of spikes and waves with theta-rhythms and photosensitivity respectively. The results of the study emphasize that combinations of different genetic factors are important in the pathogenesis of febrile convulsions.

Analysis of Variance↗

PubMed1985

Petit mal-absences of childhood onset: familial prevalences of migraine and seizures.

Seventy-seven patients suffering from childhood onset absence epilepsy as well as their families were investigated for familial prevalences of epileptic seizures and migraine. Proceeding from the whole sample, epileptic seizures seemed to occur more often in the families of female propositi, though maternal relatives of females and paternal relatives of males were more often affected than the respective opposite groups. - Migraine was more often diagnosed in female family members, which might be due to biased reports. Remarkably though, migraine prevalence was significantly higher in the mothers of female as compared to male propositi. These findings are discussed in context to others supporting a model of polygenic inheritance of epilepsy with sex-related thresholds of manifestation.

Child↗

PubMed1985

Longterm follow-up of childhood epilepsy with absences. I. Epilepsy with absences at onset.

The purpose of the follow-up study was to determine whether modern therapy with ethosuximide and/or valproate with/without phenobarbitone and its derivatives improves the longterm prognosis of absence epilepsy as compared to formerly used treatments. The patient population consisted of 194 cases (88 boys, 106 girls) with spike wave epilepsy starting with absences. In each case the diagnosis was confirmed by clinical observation and the typical EEG pattern. Only those patients were included who could be followed beyond the eighteenth year of life (up to age 45). The sample includes also older patients diagnosed during the fifties, before the present standard therapy was available. Because of the heterogeneity of the material and its selection, the data obtained are not suited to make a general statement about the ultimate prognosis of absences. The results demonstrate the effectiveness of regularly applied modern treatment. 72 out of 194 patients (37%) manifested generalized tonic clonic seizures (gtcs) during the course: 20 of these patients showed only incidental generalized tonic clonic seizures, which were not dependent on therapy. In 52 cases gtcs appeared without relation to precipitating factors. None of these patients received regular standard therapy before onset of gtcs. In 31 cases absence statuses were observed. These patients did not have an unfavourable outcome provided the standard therapy was instituted early and consequently. A change from absence epilepsy into an epilepsy with complex partial seizures sensu strictiori could not be observed. At final investigation 42 of 194 patients still had seizures: 7 with absences, 35 with grand mal with or without absences.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1985

Longterm follow-up of childhood epilepsy with absences. II. Absence-epilepsy with initial grand mal.

The study deals with 83 patients with absence epilepsy which had started with generalized tonic clonic seizures. Only those patients were included, who could be followed up to an age older than eighteen years. The patient population is heterogeneous; it includes numerous older patients in whom therapy had been instituted at a time when the present standard medication with ethosuximide and valproate was not available. Therefore the data cannot be used as a basis for global statements concerning the prognosis of absence epilepsy with grand mal onset. About 80% of the patients treated with standard therapy became seizure free. An unfavourable course was mainly preceded by incorrect, irregular and quantitatively inadequate therapy. Standard therapy cannot prevent singular generalised tonic clonic seizures in the late course. The social status of adult patients is mainly favourable if they are seizure free. Sporadic attacks usually will not impair social integration. In all, absence epilepsy starting with grand mal responds not as well to therapy and has a more unfavourable social prognosis than epilepsy starting with absences.

Adolescent↗

PubMed1984

Cerebellar atrophy following diphenylhydantoin intoxication.

Seven epileptic patients with permanent ataxic dysfunction following DPH treatment are described. The ataxia correlates with cerebellar atrophy, though the extents of clinical and structural lesions are not necessarily proportional. Cerebellar atrophy is demonstrated by CT scans, the vermal region seems to be predominantly affected.--The tentatively increased susceptibility of female patients and of patients with pre-existing brain lesions, as well as the possible consequences pertaining to the course of the epilepsy are discussed.

Adolescent↗

PubMed1983

EEG longitudinal studies in febrile convulsions. Genetic aspects.

It was the purpose of the study to obtain viewpoints on the genetics of febrile convulsions and their relationship to epilepsy by EEG long term follow up. 89 children with febrile convulsions could be followed up to the age of 11 to 13 years (in total 1046 EEG records). The study was concentrated on genetically determined EEG patterns: bilaterally synchronous spikes and waves, photosensitivity and 4-7 cps rhythms. The statistical evaluation was based on standards derived from known strict age dependence of the different patterns. Theta rhythms were found in 54%, spikes and waves of the resting record in 49% and photosensitivity in 42%. In total, genetically determined EEG patterns were found in 81% of the cases which were sufficiently investigated according to given standards. Spikes and waves are strongly age dependent with a maximum at the age of 5-6 years and appear very inconstantly. Theta rhythms and spikes and waves are closely correlated. Spikes and waves are a heterogeneous phenomenon. The type described here must be interpreted as a facultative symptom of the same functional anomaly which forms the basis of 4-7 cps rhythms. The possible pathophysiological basis of the pattern is discussed.--Photosensitivity is interpreted as the symptom of a genetically independent pathogenetic mechanism, which can lead to additive effects by interaction with other genetic abnormalities as well as exogenous factors.--The pathogenesis of febrile convulsions is multifactorial in the strict sense. While the exogenous pathogenetic factors are rather uniform, the genetic predisposition apparently is not. It is based on different genetic anomalies. Each of them is polygenically determined. In the individual case one or different factors can be involved. The genetic predisposition to febrile convulsions is definitely not only polygenic, but of heterogeneous nature. Finally the genetic relationship between febrile convulsions and epilepsy is discussed.

Adolescent↗