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Biomedical subjects

F Leutmezer

Publications and source records attributed to F Leutmezer.

At least 19 recordsLinked to original sources

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.

We sequenced 61 patients with various idiopathic generalized epilepsy (IGE) syndromes for mutations in the EFHC1 gene. We detected three novel heterozygous missense mutations (I174V, C259Y, A394S) and one possibly pathogenic variant in the 3' UTR (2014t>c). The mutation I174V was also detected in 1 of 372 screened patients with temporal lobe epilepsy. We conclude that mutations in the EFHC1 gene may underlie different types of epilepsy syndromes.

3' Untranslated Regions↗

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.

Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies in our population, we screened 96 patients with different epilepsy syndromes and a putative genetic background. No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.

CLC-2 Chloride Channels↗

Postictal paresis in focal epilepsies--incidence, duration, and causes: a video-EEG monitoring study.

BACKGROUND: Although familiar to every neurologist, postictal paresis (PP) has only rarely been analyzed systematically. OBJECTIVE: To describe the frequency and duration of PP in patients undergoing video-EEG monitoring, the semiology characteristics of seizures preceding PP, and the pattern of associated symptoms and signs. METHODS: The records of 513 consecutive patients who underwent prolonged video-EEG monitoring during presurgical epilepsy evaluation were reviewed for postictal motor deficit. Three hundred twenty-eight patients fulfilled the inclusion criteria. The videotapes of patients with PP were subsequently analyzed with a careful analysis of ictal motor phenomena at the side of the PP. RESULTS: PP was found in 44 patients (13.4%). PP was always unilateral and always contralateral to the seizure focus and had a median duration of 173.5 seconds (range 11 seconds to 22 minutes). Of all seizures with PP, 77.8% were accompanied by evident and 9.7% by very slight ictal motor phenomena ipsilateral to the side of PP, whereas 9.7% of the seizures showed no motor signs (two seizures [2.8%] could not be evaluated for motor phenomena). The most common ictal lateralizing sign was unilateral clonic activity in 55.6% of all seizures. Concomitant dystonic posturing was found in 47.9% and ictal limb immobility in 24.6% of the seizures. PP was of longer duration if ictal clonic activity was present and after tonic-clonic seizures. CONCLUSIONS: PP is relatively frequent (13.4%), is easy to detect, and has a high lateralizing value. The high incidences of dystonic posturing and of ictal limb immobility in our patients with PP may indicate that an active inhibitory process is involved in its pathogenesis.

Adolescent↗

Asymmetric ending of secondarily generalized seizures: a lateralizing sign in TLE.

The authors investigated whether asymmetric ending of the clonic phase of secondarily generalized tonic clonic seizures (SGTCS) has lateralizing value concerning the hemisphere of seizure onset. They studied 70 patients with mesial temporal lobe epilepsy who underwent epilepsy surgery. Asymmetric ending of the clonic phase occurred in 43% of patients. The last clonic movement appeared on the upper extremity ipsilateral to the hemisphere of seizure onset in 83%.

Chi-Square Distribution↗

Autonomic symptoms during epileptic seizures.

Autonomic symptoms frequently occur during epileptic seizures either as an accompaniment to other seizure symptoms or as the predominant seizure manifestation. They do not represent simple reactions to motor manifestations of seizures, but are mediated by an activation of the central autonomic network. Autonomic symptoms can be divided into cardiovascular changes, respiratory manifestations, gastrointestinal symptoms, cutaneous manifestations, pupillary symptoms, genital and sexual manifestations as well as urinary symptoms. Due to a hemispheric-specific representation of the central autonomic network, certain autonomic symptoms may provide lateralizing and sometimes localizing information on the seizure onset zone, although some of these signs may appear as a result of discharge spreading. Autonomic symptoms indicating a seizure onset in the non-dominant hemisphere include ictal vomiting and retching, spitting automatisms and ictal urinary urge. Autonomic symptoms range from subtle seizure manifestations which become apparent only during meticulous seizure analysis, to severe, sometimes life-threatening events. Cardiovascular and respiratory autonomic symptoms are discussed as the mechanisms underlying sudden unexplained death in epilepsy. When autonomic symptoms represent the sole seizure manifestation, they can pose problems for differential diagnosis of various non-epileptic conditions. Finally, autonomic seizure symptoms open a unique window on the functional organization of the central autonomic network and on brain function in general. (Published with videosequences.)

Adult↗

Ictal urinary urge indicates seizure onset in the nondominant temporal lobe.

The authors describe six patients with medically refractory temporal lobe epilepsy whose seizures were characterized by an aura of ictal urinary urge. All seizures originated in the nondominant temporal lobe as evidenced from interictal spikes, ictal EEG, and MRI. Ictal SPECT, which was obtained in two patients, showed a hyperperfusion of the insular cortex, indicating a critical role of the insula for the generation of this symptom. Ictal urinary urge represents a new lateralizing sign indicating a seizure onset in the nondominant temporal lobe.

Adolescent↗

Clinical symptoms in psychogenic seizures.

PURPOSE: To develop a classification system of psychogenic seizures based on characteristic clinical symptom clusters and sequences in order to facilitate the correct differential diagnosis of epileptic seizures. METHODS: We analysed the symptoms: clonic movements, hypermotor movements, trembling and tonic posturing of the upper/lower extremities, pelvic thrusting, stiffening of the body, version, side-to-side-head movements, non-versive head-turning and falling to the floor. We did this in a series of 16 patients with psychogenic seizures documented with prolonged video EEG monitoring. Nine patients (7 with frontal lobe epilepsy and 2 with primary generalised epilepsy with tonic, clonic seizures) served as a control group. RESULTS: We classified psychogenic seizures into 3 groups, namely (1) atonic psychogenic seizures, (2) psychogenic motor seizures and (3) psychogenic hypermotor seizures characterised by (1) falling to the ground, (2) trembling in the upper/lower extremities and (3) pelvic thrusting in combination with beating and kicking. While version exclusively occurred in epileptic seizures (incidence = 20%) and side-to-side head movements were only observed during psychogenic seizures (incidence = 8%), all other analysed symptoms were observed in both psychogenic and epileptic seizures. CONCLUSION: Our classification scheme should be useful in terms of permitting a more comprehensive clinical assessment of psychogenic seizures and their underlying psychiatric disorders. Furthermore, the differential diagnosis of psychogenic seizures should be considerably improved.

Adult↗

Genital automatisms in complex partial seizures.

OBJECTIVE: To determine which brain region is responsible for the generation of sexual automatisms. METHODS: Ninety consecutive patients with medically refractory focal epilepsy (74 with temporal lobe and 16 with frontal lobe epilepsy) referred to an epilepsy monitoring unit were studied. The occurrence of the following sexual automatisms was assessed during prolonged video-EEG monitoring: 1) repeatedly grabbing or fondling the genitals and 2) pelvic or truncal thrusting or similar movements. RESULTS: Five patients repeatedly fondled or grabbed their genitals during or immediately after some of their seizures. All five had temporal lobe epilepsy, as evidenced from prolonged video-EEG monitoring, high-resolution MRI, and good to excellent outcome after epilepsy surgery. Sexual automatisms did not occur with frontal lobe epilepsy. CONCLUSION: Sexual automatisms cannot be related exclusively to frontal lobe seizures. As previously proposed, apparently sexual hypermotoric pelvic or truncal movements are common in frontal lobe seizures, but this study suggests that discrete genital automatisms, like fondling and grabbing the genitals, are more common in seizures evolving from the temporal lobe.

Adult↗

Health-related quality of life (HRQOL), activity of daily living (ADL) and depressive mood disorder in temporal lobe epilepsy patients.

We determined the interrelations of chronological age, age at seizure onset, duration of seizure disorder, cognitive functioning (IQ), scales of activities of daily living, depressive mood disorder and measures of health-related quality of life (HRQOL). Furthermore, we investigated the association of the laterality of seizure onset zone and absence/presence of hippocampal atrophy and/or sclerosis (HA/HS) with measures of HRQOL, activities of daily living (ADL) and depressive mood disorder. In the setting of pre-surgical epilepsy evaluation, a sample of 56 patients with temporal lobe epilepsy (TLE) was studied using the Bonner Skalen für Epilepsie (BPSE) and the depression inventory D-S of von Zerssen. Patients reported high levels of dependency on others and poor coping capabilities. Our data also showed specific ADL-behaviour suggesting social withdrawal and isolation. Our results indicate emotional impairment as a major problem in TLE, because 45% of our patients scored in the depressive range of the D-S depression scale. Depression score was found to be a powerful predictor of self-reported quality of life after adjusting for seizure-related variables, demographic variables and cognitive functioning (IQ). The only scale showing a significant laterality effect was ADL-home. No relationship between the dependent measures of HRQOL, ADL-social, ADL-cultural, depressive mood disorder and laterality of the epileptogenic zone or absence/presence of HA/HS was found. HRQOL and depressive mood disorder are strongly interrelated indicating that patients with depressive symptoms report lower quality of life and specific patterns of ADL. HRQOL, ADL and depressive mood disorder are largely independent of biological markers such as laterality of seizure onset zone and absence/presence of HA/HS in TLE.

Activities of Daily Living↗

A case of startle epilepsy and SSMA seizures documented with subdural recordings.

PURPOSE: To study the mechanisms of startle-induced supplementary sensorimotor area (SSMA) seizures. METHODS: We present a patient investigated with indwelling subdural grid electrodes covering both the SSMA and the dorsolateral frontal lobe. RESULTS: We found a simultaneous seizure onset in the right dorsolateral premotor cortex and the right SSMA. High-resolution magnetic resonance imaging (MRI) showed a small subcortical lesion adjacent to the right SSMA. The patient became seizure free after resection of the lesion and the ictal-onset zone. CONCLUSIONS: We conclude that an extended region of abnormally excitable tissue within the frontal lobe could facilitate the generation of startle-induced seizures. We speculate that a widespread epileptogenic zone could help to explain why some patients with SSMA or dorsolateral frontal lobe seizures are more likely to have startle-induced seizures.

Adult↗

Regional cerebral blood flow during temporal lobe seizures associated with ictal vomiting: an ictal SPECT study in two patients.

PURPOSE: Ictal vomiting represents a rare clinical manifestation during seizures originating from the temporal lobes of the nondominant hemisphere. The precise anatomic structures responsible for generation of ictal vomiting remain to be clarified. Ictal single photon emission computed tomography (SPECT), which allows one to visualize the three-dimensional dynamic changes of regional cerebral blood flow (rCBF) associated with the ongoing epileptic activity, should be useful to study the brain areas activated during ictal vomiting. METHODS: We performed ictal Tc-HMPAO SPECT scans in two patients with mesial temporal lobe epilepsy (MTLE) whose seizures were characterized by ictal retching and vomiting. MTLE was documented by typical clinical seizure semiology, interictal and ictal EEG findings, hippocampal atrophy on magnetic resonance imaging (MRI) scan, and a seizure-free outcome after selective amydalohippocampectomy. In both patients, seizures originated in the nondominant temporal lobe. We obtained accurate anatomic reference of rCBF changes visible on SPECT by a special coregistration technique of MRI and SPECT. We used ictal SPECT studies in 10 patients with MTLE who had seizures without ictal vomiting as controls. RESULTS: In the two patients with ictal vomiting, we found a significant hyperperfusion of the nondominant temporal lobe (inferior, medial, and lateral superior) and of the occipital region on ictal SPECT. In patients without ictal vomiting, on the contrary, these brain regions never were hyperperfused simultaneously. CONCLUSIONS: Ictal SPECT provides further evidence that activation of a complex cortical network, including the medial and lateral superior aspects of the temporal lobe, and maybe the occipital lobes, is responsible for the generation of ictal vomiting.

Adult↗

[The postictal state. A clinically oriented observation of patients with epilepsy].

UNLABELLED: Epileptic seizures are followed by dynamic alterations in neurologic function in the postictal period which have received little attention by clinicians over a long period of time. We therefore retrospectively studied videotapes of 160 patients with focal epilepsy who underwent presurgical evaluation, for the occurrence of postictal symptoms to determine whether these phenomena have any localizing or lateralizing value in defining the seizure onset zone. RESULTS: (1) We found postictal paresis in 22 of 160 patients (18.8%) in each case contralateral to the hemisphere of seizure onset. (2) 'Perservative' automatisms which start during the ictus and continue in the postictal period occurred in 25.2% of 135 patients with temporal lobe epilepsy but not in patients with frontal lobe epilepsy. (3) Sexual automatisms defined as manipulations of the genitals were found exclusively in patients with temporal lobe epilepsy (in 5.9% of 135 patients). (4) Postictal 'Nose-wiping' was evident in 51.3% of 76 temporal lobe epilepsy patients but only in 12.0% of 25 extratemporal lobe epilepsy patients and was performed with the hand ipsilateral to the hemisphere of seizure onset in 86.5% of all temporal lobe seizures. (5) Postictal language disturbances were observed only in patients with temporal lobe epilepsy (34% of 97 patients) and pointed to a seizure onset in the dominant hemisphere in 80.8%. We conclude that postictal phenomena can provide reliable information for the localization of the seizure onset zone in patients with complex partial seizures. Thus, more attention should be given to the postictal state during presurgical epilepsy monitoring.

Aphasia↗

Effects of dental amalgam and heavy metal cations on cytokine production by peripheral blood mononuclear cells in vitro.

The effects of dental amalgam on cytokine production by human peripheral blood mononuclear cells (PBMC) from healthy donors were analyzed. To induce cytokine production, PBMC were stimulated with lipopolysaccharide, phytohemagglutinin, or staphylococcal enterotoxin A and cultured for 48 h in the presence of either freshly prepared amalgam, aged amalgam, or amalgam-conditioned culture medium (ACCM). The concentrations of several cytokines were measured in PBMC supernatants by enzyme-amplified sensitivity immunoassays (EASIAs). Freshly prepared amalgam as well as ACCM induced a decrease in the production of interferon-gamma (IFN-gamma) and interleukin-10 (IL-10), and an increase in the concentrations of tumor necrosis factor-alpha (TNF-alpha). Both fresh amalgam and ACCM showed no effects on IL-2, IL-6, or granulocyte-macrophage colony-stimulating factor levels. Amalgam aged for 6 weeks did not affect the concentration of any of the above cytokines. To investigate which heavy metal cations released from amalgam caused the observed immunomodulatory effects, Cu2+, Hg2+, and Sn2+, which were detected in amalgam supernatants by inductively coupled plasma atomic spectrophotometry, were added as salts to the cultures. Cu2+ and Hg2+ induced a decrease in IFN-gamma and IL-10 levels, and Hg2+ an increase in TNF-alpha concentrations. Cytokine production was not significantly modulated by Sn2+. Under these experimental conditions, release of Ag+ into culture medium was not detectable. However, Ag+ markedly suppressed the production of IFN-gamma, IL-10, and TNF-alpha. In summary, our results show that fresh amalgam, but not amalgam aged for 6 weeks, causes changes in the cytokine pattern of PBMC in vitro, and that these effects are due to the release of Cu2+ and Hg2+.

Cations↗

Ictal scalp EEG in unilateral mesial temporal lobe epilepsy.

PURPOSE: We wished to determine the predictive significance of unilateral hippocampal atrophy and interictal spikes on localization of ictal scalp EEG changes and assess whether ictal EEG provides information that might change treatment or influence prognosis in patients with such characteristics of epilepsy. METHODS: We analyzed EEG seizure patterns in 118 seizures in 24 patients with unilateral mesial temporal lobe epilepsy (MTLE) defined by typical clinical seizure semiology, unilateral hippocampal atrophy on magnetic resonance imaging (MRI) and unitemporal spikes on interictal EEG. Two blinded electroencephalographers independently determined morphology, location, and time course of ictal EEG changes. RESULTS: Lateralization was possible in 88.4-92.0% of seizures and always corresponded to the side of the interictal spike focus and of hippocampal atrophy on MRI. Although only 30.4-33.9% of seizures were lateralized at onset, a later significant pattern emerged (12.6-13.3 s after EEG seizure onset) that allowed lateralization in 82.4-91.0% of seizures with nonlateralized onset. Interobserver reliability for lateralization was excellent, with a K-value of 0.85. In most patients, either all (79.2-83.3%) or >50% (8.3-16.7%) of seizures were lateralized. In only a small proportion of patients (4.2-8.3%) were <50% of seizures lateralized. In 1 patient, no seizure could be lateralized by 1 electroencephalographer. The results of ictal EEG recordings did not alter the surgical approach and did not correlate with surgical outcome. CONCLUSIONS: We conclude that unilateral hippocampal atrophy on MRI and unitemporal interictal spikes can predict localization of ictal scalp EEG changes with a high degree of reliability and that ictal EEG provides no additional localizing information in this particular patient group.

Adult↗

Clinical seizure lateralization in mesial temporal lobe epilepsy: differences between patients with unitemporal and bitemporal interictal spikes.

OBJECTIVE: To compare the reliability of clinical seizure lateralization in temporal lobe epilepsy patients with unitemporal and bitemporal independent interictal spikes and unilateral hippocampal atrophy or sclerosis (HA/HS) on MRI scan. PATIENTS AND METHODS: We studied 11 patients with unitemporal and 10 patients with bitemporal interictal spikes. We calculated a spike ratio by dividing the number of spikes ipsilateral to the side of HA/HS by those occurring contralaterally. RESULTS: Clinical seizure lateralization was correct, i.e., ipsilateral to the side of HA/HS, significantly more often in the unitemporal group. Spike ratios were significantly higher in seizures that were lateralized correctly as compared with both incorrectly and nonlateralized seizures. Within the individual patients, a significant positive correlation between spike ratios and the proportion of correctly lateralized seizures was found. We identified three categories of symptoms according to lateralization accuracy. Category 1 symptoms (version, postictal paresis, and early ictal vomiting/retching) lateralized to the side of HA/HS in 100% of patients in the uni- and bitemporal groups. Category 2 symptoms (dystonic posturing, mouth deviation, postictal dysnomia/dysphasia, and ictal speech) provided a 100% correct lateralization in the unitemporal but not in the bitemporal patients. Category 3 symptoms (nonversive early head turning and unilateral upper extremity automatisms) yielded erroneous lateralization in both patient groups. CONCLUSIONS: We conclude that reliable clinical seizure lateralization in mesial temporal lobe epilepsy can only be achieved in patients with unitemporal interictal spikes, whereas clinical lateralization in patients with bitemporal spikes must be viewed cautiously.

Adult↗

Postictal nose wiping: a lateralizing sign in temporal lobe complex partial seizures.

We report postictal nose wiping as a postictal symptom of localizing and lateralizing significance in focal epilepsy. We reviewed videotapes of 444 focal seizures in 101 patients who underwent prolonged video and EEG monitoring during presurgical epilepsy evaluation, and observed postictal nose wiping in 51.3% of 76 patients with temporal lobe epilepsy. The hand used to perform postictal nose wiping was ipsilateral to the side of seizure origin in 86.5% of all seizures and in 97.3% of all patients. We conclude that postictal nose wiping is a common, easily assessed symptom after focal seizures of temporal lobe origin that provides reliable lateralizing information on the side of seizure onset.

Adolescent↗

Preictal SPECT in temporal lobe epilepsy: regional cerebral blood flow is increased prior to electroencephalography-seizure onset.

UNLABELLED: Peri-ictal SPECT provides unique information on the dynamic changes in regional cerebral blood flow (rCBF) that occur during seizure evolution and, thus, could be useful in clarifying the poorly understood interplay of the interictal and ictal states in human focal epilepsy. The regional hyperperfusion observed on ictal SPECT is generally believed to be a consequence of electrical seizure activity. However, recent studies using invasive long-term cortical CBF monitoring have demonstrated that rCBF changes occur up to 20 min prior to ictal electroencephalography (EEG) onset. Because of apparent technical difficulties, no preictal SPECT studies have been reported so far. Therefore, we present our results on two patients with temporal lobe epilepsy in whom preictal SPECT scans were performed fortuitously under continuous video-EEG monitoring control. METHODS: Technetium-99m-hexamethyl propyleneamine oxime was injected 11 min (Patient 1) and 12 min (Patient 2) before clinical and EEG seizure onset, as documented from simultaneous video-EEG monitoring in two patients with temporal lobe epilepsy. We obtained accurate anatomical reference of CBF changes visible on SPECT by a special coregistration technique of MRI and SPECT. RESULTS: Whereas interictal SPECT showed a hypoperfusion of the temporal lobe ipsilateral to the seizure focus, on preictal SPECT, a significant increase in rCBF in the epileptic temporal lobe could be observed. These rCBF changes were not accompanied by any significant changes of the ongoing EEG. CONCLUSION: Our study provides evidence that rCBF is increased in the epileptic temporal lobe several minutes before EEG seizure onset. Thus, rCBF changes observed on peri-ictal SPECT scan cannot be considered a mere consequence of EEG seizure activity but may rather reflect a change in neuronal activity precipitating the transition from the interictal to the ictal state.

Adult↗

[Prolonged video EEG monitoring in differential diagnosis of seizures and in presurgical epilepsy diagnosis].

Prolonged video-EEG-monitoring facilitates a correlation of clinical seizure semiology and corresponding EEG changes. Indications for prolonged video-EEG-monitoring comprise differential diagnosis of epileptic and psychogenic seizures, correct classification of epileptic syndromes and presurgical evaluation of patients with medically refractory focal epilepsies. 6000 patients in Austria would benefit from epilepsy surgery with an additional 150 bis 200 new patients appearing each year. Presurgical evaluation consists of a non-invasive Phase I and an invasive Phase II. During Phase I each patient is evaluated with a prolonged video-EEG-monitoring with scalp-EEG, a MRI-scan, a SPECT- and/or PET-scan, a neuropsychological evaluation and a Wada-test. If the epileptogenic zone cannot be localized adequately with these methods, invasive electrophysiological techniques with intracranial (epidural peg-electrodes, foramen-ovale electrodes, subdural strip or grid electrodes) or intracerebral electrodes (stereotaxically implanted depth electrodes) have to be applied. Epilepsy surgery renders 70 to 80% of patients seizure free and thus can regarded an effective and safe treatment option for patients with medically refractory focal epilepsies.

Diagnosis, Differential↗