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Biomedical subjects

U Stephani

Publications and source records attributed to U Stephani.

At least 37 records · Page 2Linked to original sources
PubMed2000

Slow cortical potentials in migraine families.

Amplitude and habituation of event-related potentials are abnormal in migraine. We investigated 43 migraine and 41 healthy families to evaluate the influences of age, sex and familial contribution on the variance of amplitude and habituation of the contingent negative variation (CNV). Analysis of individual differences in relation to the CNV habituation was performed. The study demonstrated that habituation of the early CNV component characterizes migraine considerably better than the CNV amplitudes. Habituation, however, is strongly influenced by age. Migraine adults and children generally showed reduced habituation. Surprisingly, more than 30% of the healthy adults demonstrated a marked loss of habituation. The reduced CNV habituation represented a high sensitivity but low specificity to migraine, especially in children. CNV amplitude and habituation parameters revealed a considerable familial contribution associated with migraine. No familial influence on either morphology or habituation of the CNV in healthy families or between healthy members of migraine families was observed. The low specificity and familial transmission of CNV parameters in members of migraine families suggest that increased amplitudes and reduced habituation of CNV do not constitute a primary risk factor for migraine, but rather represent a predisposition. Genetic components probably affect variation of the CNV amplitude and habituation.

Adolescent↗
PubMed2000

Paraneoplastic cerebellar degeneration in pediatric Hodgkin disease.

Paraneoplastic cerebellar degeneration (PCD) is a rare neurological complication in adults with extracerebral neoplasms. It is characterized by a diffuse cerebellar dysfunction, usually leading to severe neurological sequelae. In childhood, this complication is extremely rare. We report on PCD as primary manifestation of Hodgkin disease (HD) in a thirteen-year old boy. On magnetic resonance imaging, irreversible atrophy of the cerebellum developed within three months. Antibodies against Purkinje cells were detectable at diagnosis and normalised after successful treatment of the lymphoma. Cerebellar symptoms, however, only partially resolved. The necessity of a search for a malignant tumour is emphasised in the presence of an otherwise unexplained, subacutely developing, diffuse cerebellar dysfunction.

Adolescent↗
PubMed2000

Nonconvulsive status epilepticus--a possible cause of mental retardation in patients with Lennox-Gastaut syndrome.

Lennox-Gastaut syndrome (LGS) is one of the most severe types of childhood epilepsy. It is usually resistant to treatment and associated with mental retardation. To delineate the risk factors associated with the outcome of LGS, we evaluated, in a retrospective and multicentre study, the course of the disease, EEG tracings, and intellectual function in 101 patients. Inclusion criteria were the presence of tonic seizures as well as slow spike and wave complexes in the EEG. The average documented observation period was 16 years (range 4-31 years). Overall, the intellectual and neurological outcome was poor. At the last follow-up, 38% of the patients could not speak, 21% were unable to walk and only 4% were free of seizures. Four independent risk factors for severe mental retardation were identified by multivariate analysis. These were in a decreasing order of importance: nonconvulsive status epilepticus (NCSE), odds ratio (OR) 25.2, a previous diagnosis of West syndrome (OR 11.6), a symptomatic etiology of epilepsy (OR 9.5), and an early age at onset of epilepsy (OR 4.7). The results highlight the association between NCSE and the severity of mental retardation in patients with LGS; this association appears to be independent of symptomatic etiology. Our data provide an indirect evidence that, at least in some of the patients, NCSE is not only a concomitant feature, but also a cause of severe mental retardation.

Adolescent↗
PubMed2000

Inheritance of photosensitivity.

PURPOSE: To investigate the mode of inheritance of the photoparoxysmal response (PPR) and to obtain more information about the influence of photosensitivity on the seizure risk in siblings of patients with epilepsy. METHODS: Examination of the records of families with one photosensitive parent (Group I, n = 54) and of families with a photosensitive proband, neither of whose parents was photosensitive (Group II, n = 72). RESULTS: At the age of maximum penetrance, between 5 and 15 years of age, 50% of the siblings in Group I were photosensitive, compared to only 15% in Group II. Siblings in Group I showed a higher seizure rate (19%) than siblings in Group II (4%, p < 0.005). The majority of photosensitive siblings had no seizures, but photosensitive siblings had a higher seizure risk than non-photosensitive siblings. The highest seizure risk was found in photosensitive siblings of Group I (33%) compared to 9% in non-photosensitive siblings (p < 0.05). CONCLUSION: Our findings show that a PPR in parents is a major determinant for the risk of a PPR in offspring. The results may indicate an autosomal-dominant transmission with age-dependent penetrance of the PPR. Photosensitivity is an important factor in the pathogenesis of seizure disorders in childhood.

Adolescent↗
PubMed2000

Typical semiology of benign childhood epilepsy with centrotemporal spikes (BCECTS).

The ILAE (1989) has defined benign childhood epilepsy with centro-temporal spikes (BCECTS) as follows: BCECTS is a syndrome of brief, simple, partial, hemifacial motor seizures, frequently having associated somatosensory symptoms which have a tendency to evolve into generalised tonic clonic seizures (GTCS) [1]. Both seizure types are often related to sleep. Onset occurs between the ages of 3 and 13 years (peak 9-10 years) and recovery occurs before the age of 15-16 years. Genetic predisposition is frequent, and there is a male predominance. The EEG has blunt high-voltage centrotemporal spikes, often followed by slow waves that are activated by sleep and tend to shift or spread from side to side.

Adolescent↗
PubMed2000

Neuropsychological long-term outcome of rolandic EEG traits.

BACKGROUND: Long-term outcome of rolandic epilepsy (RE) is associated with a diversity of neuropsychological deficits in childhood, although RE is historically considered as a benign epileptic disorder. Dyslexia and other developmental disorders are associated with rolandic EEG traits. AIM: To investigate if there is an association between the manifestation of a specific EEG trait of RE and dyslexia. If the EEG traits are causing dyslexia, the cognitive deficits are supposed to be normalised after the EEG trait have resolved. METHOD: Thirty adolescents and young adults, who had previously received a diagnosis of dyslexia by standard criteria, were included. Fifteen probands (mean age = 15.9) with dyslexia and rolandic EEG traits were compared with 15 age- and sex-matched controls (mean age = 16.0) with normal EEG. RESULTS: There were no statistical differences between the groups according to intelligence (Verbal IQ, Performance IQ and Arithmetical IQ) or spelling ability. However, there was a significant difference between the groups in reading ability of non-related words with the group without RE performing better than the group with RE (p < 0.01). Attentional shifts in dichotic listening with forced or directed attention are generally found in 50-60% in normative samples. However, the present date suggest an impaired attentional shift in dichotic listening test for both groups. Only one third was able to modulate their ear-preference. There were no group differences. CONCLUSION: In general, both dyslectic groups did not show significant neuropsychological deficits as compared to standard controls. However, there were more reading errors and a tendency to attention impairments in the group with rolandic EEG trait as compared to the dyslectic group with normal EEG. Possible pathogenic factors are discussed.

Adolescent↗
PubMed1999

Migraine--evidence for a disturbance of cerebral maturation in man?

The contingent negative variation (CNV), a slow cortical potential between two defined stimuli, was used to record the effect of age in 162 migraine patients and 320 healthy controls aged between 8 and 59 years. The early component (iCNV) and habituation slope of 32 GO-trials are presented. There were no significant differences between healthy controls and migraine patients in iCNV amplitudes or habituation slope up to the age of 19 years. In the age groups from 20-59 years the healthy controls showed a significantly reduced iCNV compared with migraine patients and healthy controls below 20 years of age. While the habituation slope increased in healthy controls, there was no habituation of iCNV in migraine patients. It is suggested that reduced iCNV amplitudes in healthy controls indicate a state of cerebral maturation. This maturation effect is missing in adult migraine patients, leading to pronounced attentional effort in these patients.

Adolescent↗
PubMed1999

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.

Type IV of the carbohydrate deficient glycoprotein syndromes (CDGS) is characterized by microcephaly, severe epilepsy, minimal psychomotor development and partial deficiency of sialic acids in serum glycoproteins. Here we show that the molecular defect in the index patient is a missense mutation in the gene encoding the mannosyltransferase that transfers mannose from dolichyl-phosphate mannose on to the lipid-linked oligosaccharide (LLO) intermediate Man(5)GlcNAc(2)-PP-dolichol. The defect results in the accumulation of the LLO intermediate and, due to its leaky nature, a residual formation of full-length LLOs. N-glycosylation is abnormal because of the transfer of truncated oligosaccharides in addition to that of full-length oligosaccharides and because of the incomplete utilization of N-glycosylation sites. The mannosyltransferase is the structural and functional orthologue of the Saccharomyces cerevisiae ALG3 gene.

Amino Acid Sequence↗
PubMed1999

Benign idiopathic partial epilepsy and brain lesion.

A 14-year-old girl had severe head trauma from a dog bite at the age of 9 days. This resulted in extensive brain damage, tetraplegia, mental retardation, and epilepsy. The seizures were of rolandic type, and the EEG showed multifocal sharp waves. The course was benign. The initial diagnosis of a pure symptomatic epilepsy was revised after demonstrating typical benign focal sharp waves in the EEG of the healthy sister. Thus a phenocopy of a benign partial epilepsy by the brain lesion could be excluded with sufficient certainty. This observation allows the conclusion that the genetic disposition underlying the sharp-wave trait characteristic of benign partial epilepsies can be involved also in the pathogenesis of seemingly pure symptomatic epilepsies. EEG studies on siblings of such patients are needed to exclude possible phenocopies.

Adolescent↗
PubMed1999

Slow cortical potentials in migraine: a comparison of adults and children.

Amplitudes of contingent negative variation (CNV) in 40 migraine patients were studied during the pain-free period and compared with healthy controls (n = 24). The early component (initial CNV) is especially more negative in migraine patients. Within the migraine group, 14 children with migraine without aura (mean age 13.6 years) were compared with 11 healthy children (mean age 12.4 years). Migraine children differ from healthy children in the same manner that adult migraine patients differ from healthy adults. The CNV of five healthy children did not differ from the CNV of their siblings suffering from migraine. We suggest that there is a family-related cortical hypersensitivity which does not necessarily lead to the development of migraine.

Adolescent↗
PubMed1998

Neuroborreliosis and isolated trochlear palsy.

We report here for the first time a child with isolated trochlear palsy and neuroborreliosis. IgG and IgM antibodies against Borrelia burgdorferi were highly positive in serum and cerebrospinal fluid respectively. The symptoms resolved completely after initiation of antibiotic treatment with ceftriaxone.

Antibodies, Bacterial↗
PubMed1998

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

OBJECTIVE: To localize a gene predisposing to benign epilepsy of childhood with centrotemporal spikes (BECTS). BACKGROUND: BECTS, or rolandic epilepsy, is the most prevalent idiopathic epilepsy syndrome in childhood. Functional relevant defects in the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor (AChR) have been demonstrated in autosomal dominant nocturnal frontal lobe epilepsy, which, like BECTS, is an idiopathic partial epilepsy. METHODS: A DNA linkage study was conducted screening all chromosomal regions known to harbor neuronal nicotinic AChR subunit genes. Twenty-two nuclear families with BECTS were analyzed. RESULTS: In an "affected-only" study, best p values and lod scores were reached between D15S165 and D15S1010 on chromosome 15q14. In multipoint nonparametric linkage analysis a nominal p value of 0.000494 was calculated by GENEHUNTER. Best parametric results were obtained under an autosomal recessive model with heterogeneity (multipoint lod score 3.56 with 70% of families linked to the locus). These markers are localized in direct vicinity to the alpha 7 subunit gene of the AChR. CONCLUSIONS: We found evidence for linkage of BECTS to a region on chromosome 15q14. Either the alpha 7 AChR subunit gene or a closely linked gene are implicated in pedigrees with BECTS. The disorder is genetically heterogeneous. Surprisingly, the same chromosomal area has been reported to be linked to the phenotype in families with an auditory neurophysiologic deficit as well as in families with juvenile myoclonic epilepsy, another idiopathic but generalized epilepsy syndrome.

Adolescent↗
PubMed1997

Benign childhood epilepsy with centrotemporal spikes and electroencephalography trait are not linked to EBN1 and EBN2 of benign neonatal familial convulsions.

PURPOSE: The electroencephalographic hallmark of benign childhood epilepsy with centrotemporal spikes (BECTS, or rolandic epilepsy) are characteristically shaped centrotemporal spikes and sharp waves (CTS). This EEG trait, but not BECTS itself, has been reported to follow an autosomal dominant mode of inheritance with incomplete penetrance and age dependence. CTS therefore represents a neurobiologic marker for the increased risk of developing BECTS. Benign neonatal familial convulsions (BNFC) like BECTS is an idiopathic age-dependent epilepsy with a benign course. Observations of benign neonatal seizures and BECTS in the same individual are well documented. Neonatal seizures with benign course were found in increased numbers in a series of CTS carriers. Two genetic loci, EBN1 and EBN2, have been mapped in families with BNFC, making these two loci strong candidates for the CTS trait underlying BECTS. The aim of this study was to determine whether these two epilepsy syndromes are allelic disorders. METHODS: Linkage analysis was performed in 12 families with probands with BECTS and one or more relatives with CTS in the EEG with or without BECTS by using polymorphic DNA markers. RESULTS: Assuming an autosomal mode of inheritance with penetrances of 0.9 and 0.45, respectively, both loci were consistently excluded. CONCLUSIONS: The CTS trait and EBN1 and EBN2 segregate independently. BECTS and BNFC therefore appear to be genetically distinct entities. Benign neonatal seizures may be a underrecognized symptom of the CTS trait itself.

Adolescent↗
PubMed1995

Molybdenum-cofactor deficiency: CT and MR findings.

We describe the CT and MR findings in molybdenum-cofactor deficiency, a rare metabolic disorder which is caused by the defect of a molybdenum-containing enzyme cofactor. The CT (3 patients) and/or MR studies (3 patients) of 4 children, which became symptomatic with intractable seizures within the first days after birth and finally turned out to have molybdenum cofactor deficiency, were reviewed. All patients showed multicystic leukencephalopathy and a normal newborn pattern of myelination of the brainstem. A striking finding in some studies was an abnormal shape of the frontal horns of the dilated ventricles caused by severe volume loss of the basal ganglia, especially of the caudate nucleus, and of the corpus callosum. MRI was superior to CT in the demonstration of these lesions. In molybdenum-cofactor deficiency, which can be diagnosed by a typical laboratory pattern, CT and MR show the findings of severe perinatal brain damage. The abnormal shape of the frontal horns, although possibly not specific, may even suggest molybdenum-cofactor deficiency in newborns with intractable seizures.

Brain↗
PubMed1995

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype.

Two infants are described, who, we suggest, represent a fourth subtype of carbohydrate-deficient glycoprotein (CDG) syndrome. Both patients showed microcephaly and severe epilepsy with absent psychomotor development and similar minor dysmorphic features. There were no signs of liver dysfunction. Several glycoproteins in blood, including transferrin, alpha 1-antitrypsin, antithrombin and thyroxine-binding globulin, demonstrated abnormal isoforms suggesting a partial deficiency of mainly one or two sialic acid residues. Both the clinical picture and the glycoprotein abnormalities were different from previously defined types of CDG syndrome.

Congenital Disorders of Glycosylation↗
PubMed1994

Evidence for an NGF-induced autocrine neurotrophic potential of glial cells in nervous system development.

NGF receptor bearing peripheral glial cells, purified from chicken embryo dorsal root ganglia, were found to secrete neurite growth promoting activity (NGPA) but no NGF (detection limit 1 pM). If, however, minute concentrations of NGF (2 pM) were added to the glial cultures, an autocrine response was observed. Levels of NGF-like activity in the medium rose up to 50-fold. Induction of this autocrine response occured within a narrow range of NGF concentrations. NGPA production was not affected by addition of NGF. Coculture with neurons influenced the neurotrophic factor production. The data suggest that glial cells can "sense" traces of NGF and regulate its availability during neural development.

Animals↗