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Ulrich Stephani

Publications and source records attributed to Ulrich Stephani.

30 records · Page 2Linked to original sources
PubMed2004

[Does a morning dose of Methylphenidate Retard reduce hyperkinetic symptoms in the afternoon?].

OBJECTIVES: In order to treat children with Attention-deficit/Hyperactivity Disorder (ADHD) with a once-a-day stimulant several galenic approaches have been tried. The long acting methylphenidate (MPH, Medikinet-Retard) is a preparation with a two-step dynamic to release MPH (step one: acute; step two: prolonged). The efficacy of Medikinet-Retard, a new long-acting methylphenidate preparation, is analyzed based on the assessment of parents in the afternoon. METHODS: In a multicenter drug treatment study (placebo controlled, randomized, double-blind) 85 children (normal intelligence, age 6 to 16 years, diagnosis of ADHD according to DSM-IV) were investigated over 4 weeks with weekly visits. Forty-three children received Medikinet-Retard and forty-two children placebo. The weekly dose titration depending on body weight and symptomatology allowed a final maximum of 60 mg. The effects on ADHD as perveived by the parents were assessed weekly with a German symptom checklist for ADHD according to DSM-IV and ICD-10 (FBB-HKS). The differences between baseline and last week of treatment were compared statistically between groups. RESULTS: There was a large and statistically significant positive drug effect on ADHD symptomatology. The effect size of these differences was d = 1.2 (total score). Effects were found on inattention, hyperactivity and impulsity on the respective subscales. The efficacy of Medikinet-Retard was evaluated by the parents on an average as good. The rate of responders was four-times higher in the verum-group. The correlations of the changed scores in the parent ratings with the respective change scores in the teacher ratings were in the medium range. CONCLUSION: This is the first study with a German long-acting methylphenidate preparation (Medikinet-Retard). According to data based on parents' assessments, the drug showed very good clinical efficacy and safety in children with ADHD. Its two step galenic release of methylphenidate seems to be appropriate for a once-a-day (morning) stimulant in schoolchildren.

Adolescent↗
PubMed2004

Genetics of photosensitivity (photoparoxysmal response): a review.

We present a review of phenotype-genotype correlation and the genetics of photosensitivity. The photoparoxysmal response in EEG (PPR) is still one of the best paradigms for exogenously triggered brain responses based on a genetic predisposition. The definition of the PPR phenotype requires multiple, precise methodologic guidelines. Individual factors such as age and gender but also other, unknown factors influence the expression of the PPR. For example, PPRs occur during adolescence and can disappear at a later age. As a consequence, it is difficult to assign nonaffected disease status correctly. Autosomal dominant inheritance has been found in clinical studies of relatives of PPR-positive epilepsy and nonepilepsy subjects. Genetic heterogeneity of the PPR is obvious because the PPR also can be evoked in a number of autosomal recessive diseases. PPR is most commonly associated with idiopathic generalized epilepsies (IGEs) such as juvenile myoclonic epilepsy (JME). This comorbidity suggests that a genetic factor involved in photosensitivity also may influence the susceptibility for JME. Finding the gene for PPR also might represent a step forward in unraveling the genetic background of JME. The search for the genetic factors causing PPRs should focus on the genes affected in such epilepsies, such as genes (coding) for ion channels and neurotransmitters and their receptors. The expression of defined proteins with as-yet-undetermined functions, is changed in a few types of epilepsies with a mendelian mode of inheritance. These additional genes and the human equivalents of the genes found to be mutated in animal models also are candidates for molecular genetic studies of the PPR.

Animals↗
PubMed2004

Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.

PURPOSE: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare seizures in adulthood. Previous linkage analyses defined three susceptibility loci on chromosomes 19q12-q13.11, 16p12-q12, and 2q23-31. However, a responsible gene has not been identified. We studied linkage in 16 further BFIC families. METHODS: We collected 16 BFIC families, without an additional paroxysmal movement disorder, of German, Turkish, or Japanese origin with two to eight affected individuals. Standard two-point linkage analysis was performed. RESULTS: The clinical picture included a large variety of seizure semiologies ranging from paleness and cyanosis with altered consciousness to generalized tonic-clonic seizures. Interictal EEGs showed focal epileptiform discharges in six patients, and three ictal EEGs in three distinct patients revealed a focal seizure onset in different brain regions. In all analyzed families, we found no evidence for linkage to the BFIC loci on chromosomes 19q and 2q, as well as to the known loci for benign familial neonatal convulsions on chromosomes 8q and 20q. In 14 of the families, the chromosome 16 locus could be confirmed with a cumulative maximum two-point lod score of 6.1 at marker D16S411, and the known region for BFIC could be narrowed to 22.5 Mbp between markers D16S690 and D16S3136. CONCLUSIONS: Our data confirm the importance of the chromosome 16 locus for BFIC and may narrow the relevant interval.

Adolescent↗
PubMed2004

Induction of epileptic negative myoclonus by oxcarbazepine in symptomatic epilepsy.

Provocation of various seizure types including epileptic negative myoclonus and generalised atonic seizures is rarely observed in children treated with carbamazepine (CBZ). Provocation of the latter seizure types by oxcarbazepine (OXC) is not described in the literature. We report a four year-old boy with symptomatic epilepsy caused by left-sided cerebral atrophy of unknown origin who developed numerous daily drop attacks when exposed to OXC. Polygraphic analysis revealed secondary generalised precentral sharp-slow waves frequently associated with a silent period lasting for 100-150 ms in the electromyogram recorded from the deltoid and neck muscles. These seizures stopped promptly within 36 hours after discontinuation of OXC. This case demonstrates that OXC, similar to CBZ, can provoke epileptic negative myoclonus in some children with focal epilepsies. [Published with videosequences].

Anticonvulsants↗
PubMed2003

Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease.

Alexander disease (AD) is a rare genetic disorder of the central nervous system due to a dysfunction of astrocytes. The most common infantile form presents as a progressive leukodystrophy with macrocephalus. Recently, heterozygous de novo mutations in the gene encoding glial fibrillary acidic protein (GFAP) have been demonstrated to be associated with AD. We used localized proton magnetic resonance spectroscopy (MRS) to assess metabolic abnormalities in grey and white matter, basal ganglia, and cerebellum of 4 patients with infantile AD and GFAP mutations. Strongly elevated concentrations of myo-inositol in conjunction with normal or increased choline-containing compounds in all regions investigated point to astrocytosis and demyelination. Neuroaxonal degeneration, as reflected by a reduction of N-acetylaspartate, was most pronounced in cerebral and cerebellar white matter. The accumulation of lactate in affected white matter is in line with infiltrating macrophages. Metabolic alterations demonstrated by in vivo proton MRS are in excellent agreement with known neuropathological features of AD.

Alexander Disease↗
PubMed2003

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.

PURPOSE: [corrected] To describe the clinical and genetic findings of seven additional pedigrees with autosomal dominant lateral temporal epilepsy (ADLTE). METHODS: A personal and family history was obtained from each affected and unaffected member, along with a physical and neurologic examination. Routine and sleep EEGs, computed tomography (CT), or magnetic resonance imaging (MRI) were performed in almost all the patients. DNAs from family members were typed with several microsatellite markers localized on either side of LGI1 at 10q24 and screened for LGI1 mutations. RESULTS: The seven families included a total of 34 affected individuals (10 deceased). The age at onset ranged between 8 and 50 years (average, 22 years). Twenty-six patients had clear-cut focal (elementary, complex, or secondarily generalized) seizures, characterized by prominent auditory auras in 68% of the cases. Less frequent ictal symptoms were visual, psychic, or aphasic seizures, the latter occurring in isolation in one family. The attacks were rare and well controlled by antiepileptic drug treatment but recurred after drug discontinuation. Interictal EEGs were usually unrevealing. MRI or CT scans were negative. Analysis of LGI1/Epitempin exons failed to show mutations in three pedigrees. Linkage analysis strongly suggested exclusion of linkage in one of these families. We found two novel missense mutations, a T-->C substitution in exon 6 at position 598, and a T-->A transition in exon 8 at position 1295, the latter being detected in a family with aphasic seizures. CONCLUSIONS: Our data confirm the inclusion of aphasic seizures within the ADLTE clinical spectrum, suggest the existence of locus heterogeneity in ADLTE, and provide new familial cases with LGI1 missense mutations associated with the disease.

Adolescent↗
PubMed2003

ILAE Commission of European Affairs Subcommission on European Guidelines 1998-2001: The provision of epilepsy care across Europe.

PURPOSE: To assess the needs and resources available in the provision of basic epilepsy care across Europe. METHODS: A mailed questionnaire was used, the European Epilepsy Services inventory (EESI). The EESI was distributed to all 36 European chapters of the International League Against Epilepsy (ILAE), and answers were obtained from 32, a response rate of 89%. For the purpose of studying trends across Europe, the chapters were divided into a Western, an Eastern, a Central, and a Southern group. RESULTS: The survey results showed that there was a wide range in the number of physicians and specialists involved in epilepsy care across Europe, with a trend toward higher numbers of neurologists, pediatricians, and pediatric neurologists in Eastern Europe. Many different specialties were involved in epilepsy care, and many chapters reported differences in the provision of care across their countries, with less possibility for patients to see a specialist in the least provided areas, where most epilepsy patients were cared for by general practitioners and internists. Problems with high costs of the newer antiepileptic drugs were most pronounced in Eastern Europe. Problems with lack of comprehensive care and of epilepsy specialists, with stigma and social problems, and with insufficient professional education and knowledge about epilepsy were reported all across Europe. CONCLUSIONS: Knowledge about differences in the pattern of provision of epilepsy care and about the main problems encountered by the European ILAE chapters is of importance in the continuing efforts to improve management of epilepsy all over Europe.

Adult↗
PubMed2002

Slow cortical potentials in migraine families are associated with psychosocial factors.

OBJECTIVE: The aim of the study was the determination of the relationships between neurophysiological and psychosocial factors within the pathogenesis of migraine. METHODS: The contingent negative variation (CNV), parent-child interactions and theirs relationship were investigated in 30 families with a migraine child and 20 healthy families. RESULTS: (1) None of the groups of children, independent of diagnosis, differed according to amplitude or habituation of the CNV. (2) Parents from migraine families exerted significantly more control over migraine children compared with interactions with healthy brothers/sisters. (3) The strong relation between CNV habituation/amplitude and abnormal pattern of parent-child interactions (especially overwhelming dominance and control) was found only for young migraineurs. This relation was not seen in healthy families or for healthy siblings of migraine children. CONCLUSION: This study provides significant evidence for a strong influence of family interactions on the development and maintenance of neurophysiological abnormalities in the migraineous headache. The role of psychosocial factors in the etiopathogenesis of migraine has to be investigated in further studies in more detail.

Adult↗
PubMed2002

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.

Hyperekplexia or startle disease (stiff baby syndrome, STHE) is a hereditary neurological disorder characterised by an exaggerated startle response and infantile muscle hypertonia. Several autosomal dominant and recessive forms of the disorder have been associated with point mutations in GLRA1, the human gene encoding the alpha 1 subunit of the inhibitory glycine receptor. Here, we describe a recessive point mutation (C1073G) in exon 7 of GLRA1 leading to an amino acid exchange of serine 231 to arginine in transmembrane region TM1. The mutation was detectable by restriction digest analysis of genomic PCR amplimers by matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF-MS). Genotyping of family members was performed using an allele specific primer extension assay in combination with MALDI-TOF-MS and confirmed by conventional DNA sequencing. These studies demonstrate the broad applicability of MALDI-TOF-MS as a comparative screening tool applicable to the analysis of allelic gene variants. In comparison to the wild type alpha 1 subunit, biochemical, electrophysiological, and confocal microscopy data indicate a reduced integration of functional alpha 1(S231R) glycine receptors into the cell surface membrane upon recombinant expression. Apparently, the amino acid exchange S231R influences glycine receptor biogenesis and cellular trafficking by introducing a positive charge into transmembrane region TM1.

Base Sequence↗
PubMed2000

Prenatal infarction of the left middle cerebral artery: A case report of excellent functional outcome.

Extensive cortical-subcortical damage of the left hemisphere, most likely due to prenatal infarction of the left middle cerebral artery, was accidentally detected in a 12-year-old left-handed girl. Since clinical symptoms were minimal, the lesion had not been discovered for more than a decade. Meticulous examination revealed some slowness and somatosensory deficits of the right hand. Yet, independent finger movements were preserved, and functional skills such as reaching and grasping were unimpaired, as documented with optoelectronic motion analysis. There were no mirror movements. Transcranial magnetic stimulation indicated that the right hand was controlled by spared cortical areas of the damaged hemisphere. Gait was normal. Neuropsychological examination confirmed regular development of language, intellect, and visuospatial abilities. This case report demonstrates exceptionally good functional outcome after early brain damage.

Journal Article↗
PubMedDate not supplied

Detection of acute cytotoxic changes in progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome) using diffusion-weighted MRI and MR spectroscopy.

Alpers-Huttenlocher syndrome (AHS) is a rare mitochondrial disorder of childhood onset that is characterized by progressive encephalopathy and hepatopathy. MRI studies are rare and have not added substantial information to the pathogenesis of the encephalopathy. Diffusion-weighted MRI (DWI) and MR spectroscopy (MRS) were used in a patient with AHS during acute clinical deterioration and after improvement. DWI detected signal hyperintensity in several brain areas not restricted to any vascular territory. MRS revealed an unequivocal lactate peak and a reduced N-acetyl-aspartate-creatinine (NAA/Crea) ratio. DWI signal hyperintensity was correlated with neurologic symptoms and decreased after clinical improvement. Potentially reversible neuronal cytotoxic edema resulting from acute impairment of mitochondrial function is strongly suggested to be an important pathogenetic mechanism in AHS encephalopathy.

Aspartic Acid↗