Exploring shared triggers and potential etiopathogenesis between migraine and idiopathic/genetic epilepsy: Insights from a multicenter tertiary-based study.

INTRODUCTION: Migraine and epilepsy are two episodic disorders that share common pathophysiological mechanisms. The aim of our research was to assess the possible shared etiopathogenesis by analyzing the relations of headache, and seizure triggers, based on information obtained from a national cohort surveying the headache characteristics of 809 patients who had been diagnosed with idiopathic/genetic epilepsy. MATERIAL AND METHODS: Our study utilized data from a multi-center, nationwide investigation of headaches in 809 patients with idiopathic/genetic epilepsy. Out of these, 508 patients reported complaints related to any type of headache (333 Migraines, 175 Headaches of other types). In the initial phase of the study encompassing the entire sample of 809 epilepsy patients, differences in seizure triggers were assessed between the migraine group (n = 333) and the non-migraine group (n = 476). Additionally, the subsequent part of the study pertains to a subgroup of the entire patient group, namely those affected by all types of headaches (n = 508), and differences in headache triggers were assessed among migraine patients (n = 333) and those with other types of headaches (n = 175). Similar differences were observed between epilepsy patients with and without a family history of epilepsy. RESULTS: The most frequently reported seizure triggers in all I/GE group (n = 809) were stress (23%), sleep deprivation (22%) and fatigue (18%), respectively. The most frequently reported headache triggers in migraine patients were stress (31%), sleep deprivation (28%), and noise (26%). The occurrence of menstruation-triggered seizures in individuals with migraine and I/GE was found to be considerably higher than those without migraine. The most common triggers for seizure and headache among the individuals with a positive family history of epilepsy were determined to be light stimuli and sleep deprivation. CONCLUSION: In conclusion, our study provides valuable insights into the overlapping triggers including sleep patterns, stress levels, and menstrual cycles, etc. and potential shared etiology of migraine and I/GE. Recognizing these connections may facilitate the development of more precise therapeutic strategies and underscore the significance of adopting a holistic, multidisciplinary approach to the management of these intricate neurological conditions. Further research is essential to explore in greater depth the shared mechanisms underpinning these associations and their implications for clinical practice.

The effect of sleep disorders on quality of life in patients with epilepsy: A multicenter study from Turkey.

OBJECTIVE: We aimed to investigate sleep disorders in patients with epilepsy (PWE) and to investigate the effects of sleep disorders on quality of life. METHODS: In our multicenter study conducted in Turkey, 1358 PWE were evaluated. The demographic and clinical data of the patients were recorded. The Insomnia Severity Index (ISI), Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), Beck Depression Inventory (BDI), and Quality of Life in Epilepsy Inventory-10 (QOLIE-10) were administered. RESULTS: The mean age of 1358 patients was 35.92 ±â€¯14.11 (range, 18-89) years. Seven hundred fifty-one (55.30 %) were women. Some 12.7 % of the patients had insomnia (ISI > 14), 9.6 % had excessive daytime sleepiness (ESS > 10), 46.5 % had poor sleep quality (PSQI > 5), and 354 patients (26.1 %) had depressive symptoms (BDI > 16). The mean QOLIE-10 score was 22.82 ±â€¯8.14 (10-48). Resistant epilepsy was evaluated as the parameter with the highest risk affecting quality of life Adjusted odds ratio (AOR = 3.714; 95 % confidence interval (CI): [2.440-5.652] < 0.001)). ISI (AOR = 1.184; 95 % CI: [1.128-1.243]; p < 0.001), ESS (AOR = 1.081; 95 % CI: [1.034-1.130]; p < 0.001), PSQI (AOR = 0.928; 95 % CI: [0.867 - 0.994]; p = 0.034), BDI (AOR = 1.106; 95 % CI: [1.084-1.129]; p < 0.001), epilepsy duration (AOR = 1.023; 95 % CI: [1.004-1.041]; p = 0.014), were determined as factors affecting quality of life. SIGNIFICANCE: Sleep disorders are common in PWE and impair their quality of life. Quality of life can be improved by controlling the factors that may cause sleep disorders such as good seizure control, avoiding polypharmacy, and correcting the underlying mood disorders in patients with epilepsy.

One Patient, Three Providers: A Multidisciplinary Approach to Managing Common Neuropsychiatric Cases.

BACKGROUND: Neuropsychiatric cases require a multidisciplinary approach for effective management. This paper presented case-based discussions on migraine, dementia, epilepsy, mood disorders, neuralgia, and psychosis from the perspectives of a family physician, neurologist, and psychiatrist. The goal was to highlight the importance of collaboration between healthcare providers in managing these complex cases. METHODS: The paper was based on the proceedings of the Mediterranean Neuropsychiatry Symposium, where experts from family medicine, neurology, and psychiatry came together for comprehensive case-based discussions. The CARE framework (Case Report, Appraisal, Research, and Education) was developed to guide reporting and evaluation of case reports in clinical practice. RESULTS: Six cases were presented and discussed, highlighting the importance of a multidisciplinary approach in managing neuropsychiatric cases. The cases included chronic migraine with medication overuse, memory dysfunction with language and behavioral problems, refractory epileptic seizures with subjective sensory symptoms, bipolar affective disorder with normal pressure hydrocephalus, postherpetic neuralgia in a case with bipolar affective disorder, and psychosis with recurrent attacks with the abuse of several substances. CONCLUSION: A biopsychosocial multidisciplinary approach is essential for managing neuropsychiatric cases effectively on behalf of the patients and public health of the country. The CARE framework can guide the reporting and evaluation of case reports in clinical practice, ensuring that patients receive comprehensive and effective care. Healthcare providers should collaborate to provide the best possible care for patients with complex and multifaceted needs.

Birth outcomes in pregnant women with epilepsy: A Nationwide multicenter study from Türkiye.

OBJECTIVE: The present study was aimed at investigating the effects of anti-seizure medications (ASMs), patient demographic characteristics, and the seizure type and frequency on the development of congenital malformations (CMs) in the infants of pregnant women with epilepsy (PWWE). METHODS: PWWE followed up at the neurology outpatient clinic of 21 centers between 2014 and 2019 were included in this prospective study. The follow-up of PWWE was conducted using structured, general pregnant follow-up forms prepared by the Pregnancy and Epilepsy Study Committee. The newborns were examined by a neonatologist after delivery and at 1 and 3 months postpartum. RESULTS: Of the infants of 759 PWWE, 7.2% had CMs, with 5.6% having major CMs. Polytherapy, monotherapy, and no medications were received by 168 (22.1%), 548 (72.2 %), and 43 (5.7 %) patients, respectively. CMs were detected at an incidence of 2.3% in infants of PWWE who did not receive medication, 5.7% in infants of PWWE who received monotherapy, and 13.7% in infants of PWWE who received polytherapy. The risk of malformation was 2.31-fold (95% confidence interval (CI): 1.48-4.61, p < .001) higher in infants of PWWE who received polytherapy. Levetiracetam was the most frequently used seizure medication as monotherapy, with the highest incidence of CMs occurring with valproic acid (VPA) use (8.5%) and the lowest with lamotrigine use (2.1%). The incidence of CMs was 5% at a carbamazepine dose <700 mg, 10% at a carbamazepine dose ≥700 mg, 5.5% at a VPA dose <750 mg, and 14.8% at a VPA dose ≥750 mg. Thus the risk of malformation increased 2.33 times (p = .041) in infants of PWWE receiving high-dose ASMs. SIGNIFICANCE: Birth outcomes of PWWE receiving and not receiving ASMs were evaluated. The risk of CMs occurrence was higher, particularly in infants of PWWE using VPA and receiving polytherapy. The incidence of CMs was found to be lower in infants of PWWE receiving lamotrigine.

IVIg-induced headache: prospective study of a large cohort with neurological disorders.

BACKGROUND: Intravenous immune globulin (IVIg) is frequently used in some neurological diseases and is also the first-line therapy in Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, and multifocal motor neuropathy. We aimed to evaluate the frequency and characteristics of headaches, which is one of the most common side effects of IVIg treatment. METHODS: Patients who received IVIg treatment for neurological diseases were prospectively enrolled in 23 centers. Firstly, the characteristics of patients with and without IVIg-induced headaches were analyzed statistically. Then, patients with IVIg-induced headaches were classified into three subgroups determined by their history: no primary headache, tension-type headache (TTH), and migraine. RESULTS: A total of 464 patients (214 women) and 1548 IVIg infusions were enrolled between January and August 2022. The frequency of IVIg-related headaches was 27.37% (127/464). A binary logistic regression analysis performed with significant clinical features disclosed that female sex and fatigue as a side effect were statistically more common in the IVIg-induced headache group. IVIg-related headache duration was long and affected daily living activities more in patients with migraine compared to no primary headache and TTH groups (p = 0.01, respectively). CONCLUSION: Headache is more likely to occur in female patients receiving IVIg and those who develop fatigue as a side effect during the infusion. Clinicians' awareness of IVIg-related headache characteristics, especially in patients with migraine, may increase treatment compliance.

Peri-ictal headache: An underestimated prognostic finding associated with idiopathic epilepsies.

OBJECTIVE: There are a handful of studies investigating peri-ictal headache (PIH) and its clinical associations in patients with idiopathic/genetic epilepsies (I/GE). This multi-center study aimed to investigate PIH, which is an ignored comorbid condition in patients with I/GE, by headache experts and epileptologists working together. METHODS: The data were collected from a cross-sectional large study, using two structured questionnaires for headache and epilepsy features, fulfilled by neurologists. Headaches were classified according to the International Classification of Headache Disorders, third edition, whereas seizure and syndrome types were diagnosed according to International League Against Epilepsy criteria. The patients with a headache starting 24 hours before the onset of the seizure (preictal) or within 3 hours after the seizure (postictal) were defined as patients with PIH. We compared demographic and clinical differences between two groups of patients with and without PIH statistically and used ROC curves to determine a threshold of the total number of seizure triggers associated with the occurrence of PIH. RESULTS: Among 809 (531 females, 65.6%) consecutive patients with I/GE, 105 (13%) patients reported PIH (22 preictal, 82 postictal headaches, and one with both types). Peri-ictal headache was more frequently reported by females and those having a family history of migraine or epilepsy, and it was significantly associated with lower rates of seizure freedom for more than five years, drug resistance, and use of polytherapy, remarkably. Moreover, ROC curves showed that having more than 3 seizure triggers was associated with the presence of PIH. CONCLUSION: Our findings revealed that PIH may be linked to poor outcomes in I/GEs and seems to be related to a lower ictal threshold precipitated by multiple triggers. Future prospective studies will illuminate the unknown underlying mechanisms and appropriate management strategies for PIH to improve the prognosis.

Headache in idiopathic/genetic epilepsy: Cluster analysis in a large cohort.

OBJECTIVE: The link between headache and epilepsy is more prominent in patients with idiopathic/genetic epilepsy (I/GE). We aimed to investigate the prevalence of headache and to cluster patients with regard to their headache and epilepsy features. METHODS: Patients aged 6-40 years, with a definite diagnosis of I/GE, were consecutively enrolled. The patients were interviewed using standardized epilepsy and headache questionnaires, and their headache characteristics were investigated by experts in headache. Demographic and clinical variables were analyzed, and patients were clustered according to their epilepsy and headache characteristics using an unsupervised K-means algorithm. RESULTS: Among 809 patients, 508 (62.8%) reported having any type of headache; 87.4% had interictal headache, and 41.2% had migraine. Cluster analysis revealed two distinct groups for both adults and children/adolescents. In adults, subjects having a family history of headache, ≥5 headache attacks, duration of headache ≥ 24 months, headaches lasting ≥1 h, and visual analog scale scores > 5 were grouped in one cluster, and subjects with juvenile myoclonic epilepsy (JME), myoclonic seizures, and generalized tonic-clonic seizures (GTCS) were clustered in this group (Cluster 1). Self-limited epilepsy with centrotemporal spikes and epilepsy with GTCS alone were clustered in Cluster 2 with the opposite characteristics. For children/adolescents, the same features as in adult Cluster 1 were clustered in a separate group, except for the presence of JME syndrome and GTCS alone as a seizure type. Focal seizures were clustered in another group with the opposite characteristics. In the entire group, the model revealed an additional cluster, including patients with the syndrome of GTCS alone (50.51%), with ≥5 attacks, headache lasting >4 h, and throbbing headache; 65.66% of patients had a family history of headache in this third cluster (n = 99). SIGNIFICANCE: Patients with I/GE can be clustered into distinct groups according to headache features along with seizures. Our findings may help in management and planning for future studies.

Surgical Treatment in Refractory Epilepsy: Seizure Outcome Results Based on Invasive EEG Monitorization.

AIM: To discuss seizure outcomes of patients with invasive electroencephalography (EEG) monitorization (IEM) following their epilepsy surgery at our centre. MATERIAL AND METHODS: Forty-seven patients suffering from refractory epilepsy and who were evaluated by invasive EEG were included in this retrospective study at Istanbul Faculty of Medicine from 2003 to 2017. We examined the Video EEG and invasive EEG monitorization, cranial MRI, SPECT, PET and neuropsychological tests of all patients. Postoperative seizure outcome results were evaluated according to Engel classification. The factors affecting seizure outcomes were discussed. RESULTS: Twenty-six of the patients were female (55.3%), 21 were male (44.7). The average age was 32.0 (± 12.4). Forty-three patients had surgery and the average age of these patients was 26,6 (±11.15). 38.3% of the patients had hippocampal sclerosis (HS), 23.4% had focal cortical dysplasia (FCD), 8.5% had a tumor, 14.9% had sequela lesion and 14.9% had unknown etiology. Postoperative seizure status according to the Engel classification showed that 81.6% of the patients were class I, 10.5% were class II, 2.6% were class III and 5.3% were class IV. CONCLUSION: A significant relation was statistically determined between structural MRI lesion and favorable seizure outcome (p < 0.05). The most frequent etiology was HS in our patients. Of the patients with Engel I, the averages of their ages, ages at onset of epilepsy and ages at surgery were lower than other groups, but the difference was not statistically significant (p > 0.05). We argue that IEM is an essential examination for favorable outcomes for determining the epileptogenic zone and/or the proximity of the functional structures.

Diagnosis of comorbid migraine without aura in patients with idiopathic/genetic epilepsy based on the gray zone approach to the International Classification of Headache Disorders 3 criteria.

Background: Migraine without aura (MwoA) is a very frequent and remarkable comorbidity in patients with idiopathic/genetic epilepsy (I/GE). Frequently in clinical practice, diagnosis of MwoA may be challenging despite the guidance of current diagnostic criteria of the International Classification of Headache Disorders 3 (ICHD-3). In this study, we aimed to disclose the diagnostic gaps in the diagnosis of comorbid MwoA, using a zone concept, in patients with I/GEs with headaches who were diagnosed by an experienced headache expert. Methods: In this multicenter study including 809 consecutive patients with a diagnosis of I/GE with or without headache, 163 patients who were diagnosed by an experienced headache expert as having a comorbid MwoA were reevaluated. Eligible patients were divided into three subgroups, namely, full diagnosis, zone I, and zone II according to their status of fulfilling the ICHD-3 criteria. A Classification and Regression Tree (CART) analysis was performed to bring out the meaningful predictors when evaluating patients with I/GEs for MwoA comorbidity, using the variables that were significant in the univariate analysis. Results: Longer headache duration (<4 h) followed by throbbing pain, higher visual analog scale (VAS) scores, increase of pain by physical activity, nausea/vomiting, and photophobia and/or phonophobia are the main distinguishing clinical characteristics of comorbid MwoA in patients with I/GE, for being classified in the full diagnosis group. Despite being not a part of the main ICHD-3 criteria, the presence of associated symptoms mainly osmophobia and also vertigo/dizziness had the distinguishing capability of being classified into zone subgroups. The most common epilepsy syndromes fulfilling full diagnosis criteria (n = 62) in the CART analysis were 48.39% Juvenile myoclonic epilepsy followed by 25.81% epilepsy with generalized tonic-clonic seizures alone. Conclusion: Longer headache duration, throbbing pain, increase of pain by physical activity, photophobia and/or phonophobia, presence of vertigo/dizziness, osmophobia, and higher VAS scores are the main supportive associated factors when applying the ICHD-3 criteria for the comorbid MwoA diagnosis in patients with I/GEs. Evaluating these characteristics could be helpful to close the diagnostic gaps in everyday clinical practice and fasten the diagnostic process of comorbid MwoA in patients with I/GEs.

Acute Seizures in Cerebral Venous Sinus Thrombosis: Risk Factors and Prognosis.

BACKGROUND: Cerebral venous sinus thrombosis (CVST) often presents with acute seizures, and recurrent seizures may also be seen in the long term in some patients. The purpose of this retrospective study was to investigate the frequency and type of acute seizures and to define the risk factors. METHODS: Sixty-two patients diagnosed with CVST between September 2007 and October 2018 were retrospectively evaluated for the occurrence of acute seizures. Seizures which developed as a presenting symptom or occurred within 2 weeks of diagnosis were defined as acute seizures. Demographic, clinical, and radiologic characteristics were compared between patients with or without acute seizures. RESULTS: Twenty (32.3%) of the 62 CVST patients had acute seizures. Univariate analysis revealed a significant association between acute seizures and aphasia (P=0.03), motor deficit (P<0.001), sensory deficit (P=0.018), severe (≥3) modified Rankin Scale scores on admission (P=0.017), sagittal sinus thrombosis (P=0.037), cortical vein thrombosis (P<0.001), supratentorial lesions (P<0.001), and hemorrhagic lesions (P<0.001). Multivariate regression analysis identified supratentorial lesions (P=0.015, odds ratio: 9.131, 95% confidence interval: 1.525-54.687) and cortical vein thrombosis (P=0.034, odds ratio: 5.802, 95% confidence interval: 1.146-29.371) as independent factors for acute seizures. Although 25% of patients with acute seizures had recurrent seizures during hospitalization, only 2.6% of the 38 patients with long-term follow-up had recurrent seizures. CONCLUSIONS: Approximately one third of patients with CVST had acute seizures. Cortical vein thrombosis, supratentorial, and especially hemorrhagic lesions were the most significant risk factors associated with acute seizures. Although seizure recurrence may occur early in the course, long-term recurrence is rare in CVST.

Semiological characteristics of patients with psychogenic nonepileptic seizures: Gender-related differences.

Psychogenic nonepileptic seizures (PNES) are more prevalent among women, and diagnosis may sometimes be delayed by as much as seven years. Understanding the effect of gender on the presentation of a PNES may assist with diagnosis based on semiological details in the clinical setting. Although video-EEG monitoring (VEM) is the gold standard for diagnosing PNES, determining gender-related seizure semiology through careful history may prevent diagnostic delay while waiting for VEM. The aim of this study was to investigate gender-related differences in the semiology of PNES. Patients, all aged at least 16 years, diagnosed with PNES following VEM between December 2005 and November 2016 were included in this study. All patients' medical records and video-EEG-documented PNES were reviewed, and the presence or absence of semiological signs was recorded for each documented attack. Demographic features and semiological signs of PNES were compared between female and male patients. Forty-one patients (31 females, 10 males) aged 27.2 ±â€¯12.2 years (range: 16-65) were included in the study. Mean age at onset of PNES was higher for female patients than males, at 24.3 ±â€¯11.5 versus 17.5 ±â€¯3.2 years (p = 0.005). The median duration of PNES was longer for female patients than males, at 10 min (range: 5 s-120 min) versus 2 min (range: 10 s-60 min) (p = 0.016). The most common symptom was forced eye closure in both genders. No significant gender-specific differences were observed in terms of the type or semiology of PNES. Although there are no major gender-related differences in PNES semiology, our findings highlight the importance of greater caution, especially in male patients, when diagnosing PNES, remembering that onset may also occur at young ages and that a short seizure duration does not exclude PNES.

Does pain sensitivity increase during ictal period? Evidence from absence epileptic WAG/Rij rats.

OBJECTIVE: The hyperexcitable brain provides a common ground for comorbidity of pain syndromes and epilepsy. There are controversial reports about pain sensitivity during the ictal period. We analyzed the pain sensitivity during the ictal period in the genetic absence epilepsy animal model, Wistar Albino Glaxo/Rijswijk (WAG/Rij) rats. METHODS: The ictal and interictal pain sensitivities of symptomatic WAG/Rij rats (8 months old, n = 19) were determined and compared with those of age-matched control Wistar rats (n = 19). Pain sensitivity was assessed by applying heat stimulation to hind paws and measuring the paw-withdrawal latency using a thermal plantar analgesia meter in awake and freely moving animals. All measurements were made during the interictal and ictal periods and confirmed by simultaneous electroencephalography (EEG) through intracranially implanted electrodes. RESULTS: The nociceptive stimulus-induced withdrawal latency during the ictal period in absence epilepsy WAG/Rij rats was significantly shorter when compared with that during the interictal period (p = 0.007) and when compared with that in the control Wistar rats (p = 0.001). CONCLUSION: Our data indicate higher pain sensitivity during the ictal period in absence epilepsy rats. Considering the fact that subjects are less responsive during spike-wave discharges, there is a decrease in the level of consciousness and/or responsiveness ictally during all generalized genetic seizures, this increased pain sensitivity is rather surprising during the ictal period. Although the mechanism remains unknown, this novel finding deserves further investigation.

Epilepsy may cause increased pain sensitivity: Evidence from absence epileptic WAG/Rij rats.

OBJECTIVE: The comorbidity of epilepsy and pain disorders as well as effectiveness of certain therapeutic approaches in both conditions attracted attention to epilepsy-pain interactions. This lead to the discovery of significantly shared pathophysiological mechanisms although many aspects remain largely unknown. To test the hypothesis that epilepsy may be associated with altered pain sensitivity, we analyzed interictal pain sensitivity using epilepsy prone WAG/Rij rats, a genetic model exhibiting age-related-onset absence epilepsy. METHODS: Two series of experiments were conducted. In experiment I, pain sensitivity of symptomatic WAG/Rij rats were compared with age-matched control Wistar rats. In experiment II, pain sensitivity of WAG/Rij rats were monitored longitudinally when they were presymptomatic (at 2months) and symptomatic (after maturation, at 8months), and compared with age-matched control Wistar rats. Pain sensitivity was assessed by applying heat stimuli to hind paws and measuring the paw-withdrawal latency using thermal plantar analgesia meter in awake and freely moving animals. All pain measurements were made during the interictal period, confirmed by simultaneous electroencephalography through intracranially implanted electrodes. RESULTS: In experiment I, the interictal pain withdrawal latency of symptomatic WAG/Rij rats was significantly shorter than control Wistar rats (P<0.01). In experiment II, WAG/Rij rats had significantly shorter latency of withdrawal response than control Wistar rats, both at presymptomatic (P<0.05) and symptomatic stage (P<0.0001). Matured (8months old) control Wistar rats demonstrated significantly increased withdrawal latency compared to the 2months animals (P<0.01), but the WAG/Rij rats did not (P>0.5). CONCLUSION: Epileptic WAG/Rij rats present significantly increased pain sensitivity when compared to control Wistar rats, suggesting comorbidity of epilepsy and pain.

Prevalence of restless legs syndrome in Trabzon in the northeast Black Sea Region of Turkey: co-morbidities, socioeconomic factors and biochemical parameters.

OBJECTIVES: Factors including heritability, climate features, co-morbid diseases and methodological differences between studies may underlie variation in the prevalence of restless legs syndrome (RLS). The purpose of this study was to assess the prevalence of RLS in Trabzon and to evaluate associated factors by including biochemical investigations. METHODS: This community-based study was conducted among a random sample of 3789 adults. The criteria suggested by the International RLS Study Group were used in the assessment of RLS. Individuals responding affirmatively to at least one question were interviewed and examined by neurologists for definitive diagnosis of RLS. Age- and gender-matched RLS-negative individuals were enrolled in the control group. Blood samples from RLS patients and control subjects were collected after 12-hour fasting to evaluate fasting blood glucose, ferritin, vitamin B12, folic acid and creatinine. RESULTS: The prevalence of RLS was 4.5%. Age, female gender and educational level were identified as independent risk factors for RLS. Peak prevalence rates were observed in the fourth decade in women and in the sixth decade in man. A familial history of RLS, low ferritin and vitamin B12 levels and multiparity were more common in women with RLS. Fasting blood glucose, folic acid and creatinine levels were not significantly different between the patients and controls. DISCUSSION: The prevalence of RLS is relatively consistent in different regions of Turkey. Women with RLS may have different risk factors from men with RLS that may lead to increased prevalence at earlier ages. Low socioeconomic status may also affect the prevalence of RLS.

Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.

Lafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes. Mutational analysis in both genes was initiated with the aim of establishing LD DNA diagnosis in Turkey. Four novel NHLRC1 (p.G131X, p.P69S and p.D82H) and EPM2A (p.V7A) and two recurrent NHLRC1 (p.D146N) and EPM2A (p.R241X) mutations were identified in six families. The delineation of causative mutations in patients provided early disease diagnosis for other family members and contributed to the knowledge of LD pathogenesis.

Prevalence of epilepsy in northeast Turkey.

The aim of this study was to determine the prevalence and clinical and socio-demographic characteristics of active epilepsy in the population, aged 15 and over, in the province of Trabzon in northern Turkey. We surveyed households and identified 34 epileptic patients (prevalence of 6/1,000), 28 of whom had active epilepsy (prevalence of 5/1,000). Only one case of hot water epilepsy was established among the 5,254 participants. Of the various seizure types, the most common were partial seizures (63%), over half of which were secondary generalised seizures. The largest syndromic category was that of localisation-related symptomatic cases (46%). Forty-six percent of cases were of unknown cause, and 16% were resistant to medication. The prevalence rate of active epilepsy in Trabzon is low compared to other parts of Turkey and other developing countries. This may be attributable to several factors, and particularly to variations among socio-economic factors. The population of Trabzon is regarded as relatively stable and homogenous, and socio-demographic and health data for the province of Trabzon are much better than those for the rest of the country.

Matrix metalloproteinase-9 (MMP-9) and tissue inhibitor of matrix metalloproteinase (TIMP-1) in patients with relapsing-remitting multiple sclerosis treated with interferon beta.

OBJECTIVES: Matrix metalloproteinases (MMPs), particularly MMP-9, facilitate T-cell migration into the central nervous system. They play a key role in the disruption of the blood-brain barrier (BBB) and thus in the pathogenesis of multiple sclerosis. Interferon beta's (IFNbeta) ability to alter the balance between MMP-9 and MMP-9s natural inhibitor, tissue inhibitor of matrix metalloproteinase-1 (TIMP-1), may play a role in stabilizing the BBB. The aim of this study, was to evaluate serum MMP-9 and TIMP-1 and cerebrospinal fluid (CSF) TIMP-1 levels in patients with relapsing-remitting multiple sclerosis (RRMS) treated with IFNbeta-1a. PATIENTS AND METHODS: Blood and CSF samples from 14 patients with RRMS before and 6 months after IFNbeta therapy and 14 age and sex-matched controls were obtained. Levels of MMP-9 and TIMP-1 were measured using ELISA. RESULTS: Before treatment, patients with MS had higher levels of serum MMP-9 and a higher MMP-9/TIMP-1 ratio than the controls. Although serum levels of TIMP-1 were lower in RRMS patients than in the controls, the differences did not reach statistical significance. CSF levels of TIMP-1 were significantly lower in RRMS patients. In the sixth month of IFNbeta therapy serum MMP-9 and the MMP-9/TIMP-1 ratio were significantly decreased, whereas the changes in serum TIMP-1 were not statistically significant. There was a significant increase in CSF TIMP-1 levels in the sixth month of IFNbeta therapy. CONCLUSIONS: Our result shows that RRMS patients have an impaired MMP-9 and TIMP-1 balance, and that 6 months of IFNbeta therapy is beneficial in restoring this balance.

Temperament and character profiles of patients with tension-type headache and migraine.

The aim of this present study was to evaluate the temperament and character profiles of persons with tension-type headache (TTH) and migraine, and to compare the results with those of healthy controls. The study population consisted of 81 patients with TTH (60 female, 21 male) and 56 patients with migraine (34 female, 17 male) aged 18-50 years, according to the criteria of the International Headache Society with age and gender - matched healthy control subjects (54 female, 28 male). All participants were instructed to complete a self-administered 240-item temperament and character inventory (TCI) questionnaire and Beck Depression Inventory (BDI). The TCI assesses four dimensions of temperament, namely, novelty seeking (NS), harm avoidance (HA), reward dependence (RD), and persistence (P), and three dimensions of character, being self-directedness (SD), cooperativeness (C) and self-transcendence (ST). According to the TCI biosocial model, the temperament dimension HA is suggested to indicate central serotonergic turnover, which is further correlated with depressive state. It was found that mean BDI scores were significantly higher in patients with TTH and migraine than in those of the controls. The BDI scores were positively correlated with HA scores (r = 0.295, P < 0.001) and negatively correlated with SD (r = -0.386, P < 0.001) and C scores (r = -0.164, P= 0.016). Multivariate analysis showed that BDI scores had significant covariation for HA, SD and C. Despite using the BDI score as a covariate, TTH patients had higher HA scores (P = 0.01) than did the control subjects. No significant differences were found between the groups regarding main NS, RD, P, SD, C and ST scores. Based on the main results of this study, it is suggested that higher serotonergic activity related to HA scores in TTH patients and their relationship with depressive symptomatology supports the role of central serotonergic involvement in TTH.

Individual risk factors for carpal tunnel syndrome: an evaluation of body mass index, wrist index and hand anthropometric measurements.

In this study we aimed to identify the role of the body mass index (BMI), wrist index and hand anthropometric measures as risk factors for carpal tunnel syndrome (CTS) in both genders. Based on clinical and electrophysiologic diagnostic criteria, 154 female and 44 male CTS patients, as well as 150 female and 44 male age-matched control subjects, were selected. BMI, wrist index, hand shape index, digit index and hand length/height ratio were compared between the CTS patients and the control subjects for each gender separately. Mean BMI was found to be a significant risk factor for CTS in both genders. The wrist index was found to be higher in female (P < 0.001) and in male (P = 0.034) CTS groups than in the respective control groups. Logistic regression analysis revealed the wrist index to be an independent risk factor in females, but not in males. Shape and digit indices were significantly higher in female CTS patients than in corresponding control subjects, and regression analysis showed the shape and digit indices to be independent risk factors for CTS. In the male CTS group, the shape and digit indices did not significantly differ from their controls. Differences in the hand length/height ratio were not statistically significant in female and male CTS patients compared to their controls and it was not found to be an independent risk factor for CTS. Our study confirmed BMI as an independent risk factor for CTS in both genders. Hand and wrist anthropometrics were found to be independent risk factors for CTS in females, but not in males.

[Temperament and character profile of patients with chronic tension-type headache]. / Kronik Gerilim Tipi Bas Agrili Hastalarda Mizaç ve Karakter Profili.

OBJECTIVE: To examine the personality profiles of patients with chronic tension-type headache (CTTH) and controls using the Temperament and Character Inventory (TCI), and to determine whether the data acquired were related to the depressive status of patients. METHOD: Forty-eight patients with CTTH and 50 age, gender and education level matched, healthy, headache-free control subjects were selected for the study. The Turkish versions of TCI and Beck Depression Inventory (BDI) were applied to all participants. In the TCI, novelty seeking (NS), harm avoidance (HA), reward dependence (RD) and persistence (P) are the 4 dimensions of temperament; self-directedness (SD), cooperativeness (C) and self-transcendence (ST) are 3 dimensions of character. RESULTS: The BDI scores were positively correlated with HA scores (r=0.486, p<0.001) and negatively correlated with SD (r=-0.412, p<0.001) and C scores (r=-0.212, p=0.016). Higher HA scores and lower SD scores were found in CTTH patients when compared to the controls. After using the adjusted TCI scores (after being partialled out for the effect of BDI scores), while similar results of higher HA scores relative to healthy controls were found, SD scores did not differ statistically between the two groups. NS, RD, P, C and ST scores did not differ significantly between the two groups, using either adjusted or unadjusted TCI scores. CONCLUSION: The study of personality suggests strong effect of depressive status on SD scores in CTTH patients. Higher HA scores in CTTH patients support the role of serotonergic involvement in the pathophysiology of CTTH.