Distinctive sleep complaints and polysomnographic findings in antibody subgroups of autoimmune limbic encephalitis.

INTRODUCTION: Sleep disturbances are being increasingly recognized in association with autoimmune encephalitis (AIE). We investigated the prevalence of sleep-related symptoms and polysomnographic features of patients with AIE and the long-term outcomes in these patients in a multi-center, prospective study from Turkey. METHODS: We prospectively evaluated patients with definite AIE in a common database including demographics, AIE-related and sleep-related symptomatology. Maximum and latest modified Rankin scores (mRS) and Liverpool Outcome Score (LOS) were noted. RESULTS: Of 142 patients, 87 patients (61.3%) fulfilled the criteria for definite AIE (mean age, 46.8+18.8 years; 51.7% women; mean disease duration, 21.0+38.4 months). 78.9% of patients had at least one or more new onset or worsened sleep-related symptomatology: insomnia (55.3%), excessive daytime sleepiness (EDS, 28.0%), sleep apnea (18.7%), REM sleep behavior disorder (RBD, 17.3%), restless legs syndrome (10.7%) and oneiric stupor (9.3%). Sleep efficiency, N3 and REM sleep were decreased and N1 sleep was increased in patients with Ab[+] AIE. LOS points were highest in those with insomnia and sleep apnea, and lowest in those with EDS, RBD and oneiric stupor. RBD and sleep apnea were more common in anti-LG1 Ab[+] group than anti-NMDAR Ab[+] group. Index of periodic leg movements was highest in anti-LG1 Ab[+] group. Patients with EDS and oneiric stupor had more common memory problems. Maximum and latest mRS scores were positively correlated with EDS and oneiric stupor. EDS, RBD and oneiric stupor were negatively correlated with LOS points. CONCLUSION: Our study emphasizes the presence and importance of early diagnosis of sleep disturbances in AIE in regard to their deteriorative influences on disease prognosis.

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.

Treatment of COVID-19-induced refractory status epilepticus by tocilizumab.

BACKGROUND AND PURPOSE: COVID-19 is a novel infectious disease caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in which neurological complications have been increasingly recognized. Acute symptomatic epileptic seizures and status epilepticus are frequently reported neurological complications associated with this infection. The nervous system damage caused by SARS-CoV-2 may be mediated by the immune system. Interleukin 6 (IL-6), an important component of the cytokine storm, is directly correlated with the severity of symptoms. Tocilizumab is an inhibitor of IL-6 receptors, which blocks IL-6-mediated signal transduction and is used in the treatment of COVID-19 and status epilepticus. CASE REPORT: A patient with the Unverricht-Lundborg disease is presented who had developed refractory recurrent status epilepticus during COVID-19 infection, which was finally controlled by treatment with tocilizumab. DISCUSSION: Tocilizumab, an IL-6 inhibitor, may be considered as a treatment option in patients with status epilepticus and refractory seizures.

Evaluation of the Tibial Nerve with Shear-Wave Elastography: A Potential Sonographic Method for the Diagnosis of Diabetic Peripheral Neuropathy.

Purpose To evaluate the value of shear-wave elastography (SWE) in the detection of diabetic peripheral neuropathy (DPN) of the tibial nerve. Materials and Methods This study was approved by the institutional review board, and written informed consent was obtained from all study participants. The study included 20 diabetic patients with DPN (10 men, 10 women), 20 diabetic patients without DPN (eight men, 12 women), and 20 healthy control subjects (nine men, 11 women). The tibial nerve was examined at 4 cm proximal to the medial malleolus with gray-scale ultrasonography and SWE. The nerve cross-sectional area (in square centimeters) and the mean nerve stiffness (in kilopascals) within the range of the image were recorded. Inter- and intrareader variability, differences among groups, and correlation of clinical and electrophysiologic evaluation were assessed with intraclass correlation coefficients, the Mann Whitney U test, and the Wilcoxon signed rank test. Results Between diabetic patients with and diabetic patients without DPN, mean age (60 years [range, 38-79 years] vs 61 years [range, 46-75 years], respectively), mean duration of diabetes (10 years [range, 1-25 years] vs 10 years [range, 2-26 years]), and mean body mass index (31.4 kg/m2 [range, 24.7-48.1 kg/m2] vs 29.8 kg/m2 [range, 22.9-44.0 kg/m2]) were not significantly different. Diabetic patients without DPN had significantly higher stiffness values on the right side compared with control subjects (P < .001). Patients with DPN had much higher stiffness values on both sides compared with both diabetic patients without DPN (P < .001) and healthy control subjects (P < .001). A cutoff value of 51.0 kPa at 4 cm proximal to the medial malleolus revealed a sensitivity of 90% (95% confidence interval [CI]: 75.4%, 96.7%) and a specificity of 85.0% (95% CI: 74.9%, 91.7%). Conclusion Tibial nerve stiffness measurements appear to be highly specific in the diagnosis of established DPN. The increased stiffness in subjects without DPN might indicate that the nerve is affected by diabetes. © RSNA, 2016 Online supplemental material is available for this article.

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.

Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific de-ubiquitinating enzyme, is one of the most abundant proteins in the brain. We describe three siblings from a consanguineous union with a previously unreported early-onset progressive neurodegenerative syndrome featuring childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction, and spasticity with upper motor neuron dysfunction. Through homozygosity mapping of the affected individuals followed by whole-exome sequencing of the index case, we identified a previously undescribed homozygous missense mutation within the ubiquitin binding domain of UCHL1 (UCHL1(GLU7ALA)), shared by all affected subjects. As demonstrated by isothermal titration calorimetry, purified UCHL1(GLU7ALA), compared with WT, exhibited at least sevenfold reduced affinity for ubiquitin. In vitro, the mutation led to a near complete loss of UCHL1 hydrolase activity. The GLU7ALA variant is predicted to interfere with the substrate binding by restricting the proper positioning of the substrate for tunneling underneath the cross-over loop spanning the catalytic cleft of UCHL1. This interference with substrate binding, combined with near complete loss of hydrolase activity, resulted in a >100-fold reduction in the efficiency of UCHL1(GLU7ALA) relative to WT. These findings demonstrate a broad requirement of UCHL1 in the maintenance of the nervous system.

Median nerve stiffness measurement by shear wave elastography: a potential sonographic method in the diagnosis of carpal tunnel syndrome.

OBJECTIVES: To measure the median nerve (MN) stiffness by quantitative shear wave elastography (SWE) at the carpal tunnel inlet and to determine whether SWE can be used in the diagnosis of carpal tunnel syndrome (CTS). METHODS: The study included 37 consecutive patients (60 wrists) with a definitive diagnosis of CTS and 18 healthy volunteers (36 wrists). The MN cross-sectional area (CSA) by ultrasound and stiffness by SWE were studied. The difference between CTS patients and controls, and the difference among subgroups based on electrodiagnostic tests were studied by the Student's t test. Interobserver variability and ROC analysis were performed. RESULTS: The MN stiffness was significantly higher in the CTS group (66.7 kPa) when compared to controls (32.0 kPa) (P < 0.001), and higher in the severe or extreme severity group (101.4 kPa) than the mild or moderate severity group (55.1 kPa) (P < 0.001). A 40.4-kPa cut-off value on SWE revealed sensitivity, specificity, PPV, NPV and accuracy of 93.3%, 88.9%, 93.3%, 88.9% and 91.7%, respectively. Interobserver agreement was excellent for SWE measurements. CONCLUSIONS: Median nerve stiffness at the carpal tunnel inlet is significantly higher in patients with carpal tunnel syndrome, for whom shear wave elastography appears to be a highly reproducible diagnostic technique. KEY POINTS: • Clinical examination is important for diagnosis of carpal tunnel syndrome • Shear wave elastography (SWE) offers new clinical opportunities within diagnostic ultrasound • SWE is highly reproducible in evaluation of median nerve stiffness • Median nerve stiffness is significantly increased in carpal tunnel syndrome • Elastography could become useful in diagnosis of carpal tunnel syndrome.

Delayed Enhancing White Matter Lesions, a Rare Complication After Stent-Assisted Coil Embolization: A Case Report.

BACKGROUND: Delayed enhancing white matter lesions are a rare complication that develops after endovascular treatment of cerebral aneurysms, the etiology of which remains unclear. METHODS AND RESULTS: We present a 52-year-old female patient who was symptomatic with a seizure-like condition and showed reversible cranial parenchymal changes with high-dose cortisone treatment after endovascular stent-assisted coil embolization for an unruptured aneurysm in the internal cerebral artery. CONCLUSIONS: Clinicians should be alert to this rare complication and should follow patients for a long time due to its fluctuating and long-term course.

End of the barbexaclone era: an experience of treatment withdrawal.

Barbexaclone is a salt compound of phenobarbital and propylhexedrine (a drug with indirect sympathomimetic properties). Due to the presence of the psychostimulating agent, propylhexedrine, this drug has less of a sedative effect and is well tolerated, compared to phenobarbital. Barbexaclone was widely used in Turkey until 2009 when its production ended, however, it gave rise to an epidemic for which we were not prepared. Since then, no standardised management protocol has been developed and each patient has been evaluated individually, thereby creating tailor-made solutions based on the extent of each patient's supply of remaining drug (from a few tablets to a stock which might last for six months). The rate of seizure freedom was 37.7% under barbexaclone treatment and dropped to 32.2% in the follow-up period after discontinuation of the drug. In the majority of cases, a new antiepileptic drug was added and this was commonly levetiracetam, a more expensive drug. In this article, we share our experiences of a general problem: the withdrawal of an antiepileptic drug from the market. Although there was prior notification regarding barbexaclone withdrawal, it was not possible to contact all patients since such a database is not available in Turkey. Although no conclusions regarding the efficacy of the drug or comparison of efficacy with other antiepileptic drugs is provided, it is nonetheless noteworthy to share these experiences since some patients had lost seizure control for reasons that could not be explained.

Understanding the features of posterior auricular muscle response in a facial nerve disease prototype.

OBJECTIVES: This study aims to compare and investigate the changes of posterior auricular muscle response (PAMR) following peripheral facial nerve palsy (PFP) with blink reflex (BR). PATIENTS AND METHODS: A total of 75 idiopathic PFP patients and age and sex-matched 38 healthy volunteers were included. Patients with PFP were classified into two groups including early (≤6 months) and late (>6 months) based on the duration of symptoms. Following clinical evaluation, PAMR and BR were recorded. A comparison was performed among the early PFP group (n=52), late PFP group (n=23) and healthy volunteers (n=38). RESULTS: We obtained PAMR in 78.9% (n=30) of healthy volunteers, in 60.9% (n=14) of late and in only 38.5% (n=20) of early PFP patients (p=0.001). No habituation was observed following repeated stimuli. The mean latencies were 9.1±1.6, 10.9±1.9 and 12.3±2.0 msec., respectively (p=0.000). R1 and R2 latencies were longer in the early PFP group, compared to other groups (p=0.000). CONCLUSION: Posterior auricular muscle response exhibits changes in a manner similar to R1 and R2 of BR in early and late PFP. The occurrence rate of PAMR seems to be lowest or its latency is prolonged in the early PFP.

Determinants of felt-stigma in adolescents with epilepsy: Is it the same story?

PURPOSE: The present study aimed to investigate previously researched variables in adult people with epilepsy (PWE), which include felt stigma, perceived overprotection, concealment of epilepsy, and epilepsy-related concerns for adolescents with epilepsy (AWE). Another goal was to determine the reported levels of these variables and explore the relationships among them, as well as their associations with demographic and clinical factors. Additionally, we also investigated whether clinical and demographic variables create significant changes in these variables. Lastly, we aimed to determine the variables that predict felt-stigma in AWE. METHODS: On hundred and nineteen AWE aged between 10 and 18 were included in the study by using convenience sampling. Participants received the scales and demographic information form either in face to face meeting or via a Zoom session. RESULTS: Nearly half of the participants stated high level of felt stigma, perceived overprotection and concealment of epilepsy, while more than half reported concerns about their future/occupational prospects. Also, felt stigma had significant relations with concealment of epilepsy and concerns related to epilepsy. Early adolescents were under more risk for perceived overprotection, while late adolescents had higher concerns related to future/occupation. Females reported more felt stigma. Finally, felt stigma was predicted by concealment, concerns related to future/occupation, and concerns related to social life. CONCLUSION: The variables that explain the felt-stigma in AWE appear to be quite similar to those in adult PWE.

The comparison of decision-making in ambiguous situations and galvanic skin responses as somatic markers in patients with posterior cortex epilepsy and mesial temporal lobe epilepsy with hippocampal sclerosis.

INTRODUCTION: Decision-making behaviors of patients with mesial temporal lobe epilepsy (MTLE) is a subject that has been studied frequently. However, determining the neuropsychological profiles of patients with different types of epilepsy is also important. Our main purpose was to examine the decision-making behaviors of patients with posterior cortex epilepsy (PCE) through the assumptions of somatic marker hypothesis (SMH) and to compare their performances with those of a MTLE group and a control group. METHOD: Participants comprised of 13 patients with PCE (mean age 30.92 ± 9.99 years); 14 patients with MTLE with hippocampal sclerosis (MTLE-HS) (mean age 25.53 ± 7.40 years) and 15 controls (mean age 24.60 ± 8.45 years). Decision-making performances were assessed with the Iowa gambling test (IGT) and anticipatory skin responses before each choice were recorded. A comprehensive neuropsychological test battery was also given to all participants in order to examine the relationship of decision-making with other cognitive functions. RESULTS: Anticipatory responses before choosing from disadvantageous decks were significantly larger than choosing from advantageous decks in the PCE group (p = 0.00). No significant difference was found between the PCE and control group's total net scores. IGT total net scores was significantly correlated with Stroop test interference time (p = 0.03). CONCLUSION: The study reveals that cognitive impairments of patients with PCE are not limited to brain's posterior areas' functions, and provides evidence for the current paradigm which understands epilepsy as a network disorder.

Factors Affecting Seizure Outcomes After Surgery for Cavernoma Related Epilepsy.

AIM: To present one of the largest retrospective cavernoma related epilepsy (CRE) studies which include divergent supratentorial locations operated and followed up at least 2 years. We also investigated the factors affecting the seizure outcome. MATERIAL AND METHODS: This study includes a total of 56 patients with drug-responsive (n=40) and drug-resistant (n=16) CRE who underwent resective surgery. Age at seizure onset, age at surgery, gender, duration of epilepsy, seizure frequencies/type before and after treatment, EEG and brain MRI findings, prescribed AEDs, preoperative and post-operative neurological status, histopathological diagnosis, post-operative seizure outcomes and surgical information were documented. RESULTS: The average follow-up period was 69.6 months (range 24-216 months). The seizure outcome was assessed according to Engel?s classification at the last follow-up. Engel class I was achieved in 53 patients (95%); there was one patient at class II and two patients at class III. All patients in the drug-responsive group were at Engel class I after the surgery, while all patients at Engel classes II and III were in the drug-resistant patient group. This clearly shows that there were better outcomes in DRP group (p < 0.01). Neither the locations of cavernomas nor the duration of epilepsy had any impact on seizure outcome (p > 0.05). CONCLUSION: An earlier surgical intervention may prevent the patients from becoming drug-resistant such that their chances of being seizure free after surgery increase.

Improved decision-making and psychophysiological responses in mesial temporal lobe epilepsy after anterior temporal lobectomy.

The somatic marker hypothesis is an influential model of human decision-making postulating that somatic feedback to the brain enhances decision-making in ambiguous circumstances, i.e. when the probabilities of various outcomes are unknown. The somatic feedback can be measured as autonomic responses, which are regulated by the amygdala. The failure to evoke this somatic feedback, which occurs in patients with amygdala lesions, impairs decision-making. The purpose of this study was to investigate the decision-making behaviour of mesial temporal lobe epilepsy patients with pre- and post-epilepsy surgery to ascertain whether the decision-making abilities of groups can be explained by means of the generation of somatic feedback responses. The preoperative group comprised 32 patients with mesial temporal lobe epilepsy due to hippocampal sclerosis, while the postoperative group comprised 23 patients who had undergone anterior temporal lobectomy. The age and gender-matched control group consisted of 30 healthy participants. Decision-making performances were assessed and skin resistance responses were measured simultaneously. The findings of this study reveal that the decision-making performance of preoperative patients with unilateral mesial temporal lobe epilepsy was impaired under conditions of ambiguity, i.e. they did not generate somatic feedback responses before making decisions around ambiguous outcomes, and produced significantly poor scores overall based on a decision-making task. In addition, the resection of epileptogenic limbic structures positively affected the generation of somatic feedback responses, as demonstrated by the significant difference between the magnitudes of autonomic responses of the pre- and post-operative groups. The findings of the study validate the contribution of mesial temporal lobe structures to decision-making behaviour, and also point to the importance of examining the connectivity patterns between the neural structures involved in the decision-making network.

Anti-Neuronal Autoantibodies in Both Drug Responsive and Resistant Focal Seizures with Unknown Cause.

BACKGROUND: and Objective Autoimmunity is an emerging field of research in the etiology of different neurological disorders including epilepsy. We aimed to investigate the presence of neuronal autoantibodies in focal epilepsy with unknown cause and their clinical correlates in both drug-responsive and resistant patients. METHOD: Between 2009 and 2010 94 patients were prospectively enrolled, had their antibodies tested and clinically followed." An additional 50 age- and gender-matched controls were also tested for antibodies. Age at examination, gender, age at onset, seizure frequency, risk factors, seizure precipitants, and type of seizures were noted. Plasma obtained from patients was frozen at -80°C and analysed for autoantibodies against VGKC-complex, VGCC, GAD, LGI1, CASPR2, NMDA, AMPA and GABAB receptors with immunocytochemistry and radioimmunoassay as required. RESULTS: Thirteen (13.8%) patients, but none of the controls, had antibodies (p=0.003). Antibodies were directed against the uncharacterized components of VGKC-complex in 5 patients (5.3%), GAD in 4 patients (4.2%), NMDA-R in 1 patient (1%), AMPA-R in 1 patient (1%) and both GAD and VGKC-complex in 2 patients (2.1%). Prognosis of epilepsy, in subsequent follow-up, did not correlate to general presence of anti-neuronal antibodies with slightly more patients with antibodies epilepsy control than without (76.9% vs. 69.1%, not-statistically significant. Three patients with suspected active autoimmunity and epilepsy who were treated, showed a response to treatment with a reduction in the seizure frequency. Although most clinical features were identical between seropositive and seronegative patient groups, seropositive patients were more likely to have inflammatory/autoimmune disorders in their medical history. DISCUSSION: In keeping with previous studies, we have shown anti-neuronal antibodies in a proportion of focal epilepsy patients. Although autoimmunity might merely occur as a bystander effect in many chronic neurological disorders, association of anti-neuronal antibodies with good response to immunotherapy and coexisting autoimmune disorders suggests that anti-neuronal autoimmunity might participate in seizure formation at least in a subgroup of focal epilepsy patients. CONCLUSION: Immunity may play a role in some patients with unknown etiology regardless of prognosis and immunmodulatuar treatment may be helpful in seropositive group.

Startle Response in Progressive Myoclonic Epilepsy.

Cortical reflex myoclonus is a typical feature of progressive myoclonic epilepsy (PME) in which it is accompanied by other types of mostly drug-resistant seizures and progressive neurological signs. Although PME is characterized by cortical hyperexcitability, studies have demonstrated atrophy and degenerative changes in the brainstem in various types of PME. Thus, we have questioned whether any stimuli may trigger a hyperactive response of brainstem reticular formation in PME and investigated the startle reflex in individuals with PME. We recorded the auditory startle response (ASR) and the startle response to somatosensory inputs (SSS) in patients with PME, and compared the results with healthy volunteers and patients with other types of drug-resistant epilepsy. All patients were using antiepileptic drugs (AEDs), 12 were on multiple AEDs. The probability of ASR was significantly lower and mean onset latency was longer in patients with PME compared with other groups. SSS responses over all muscles were low in both the PME and drug-resistant epilepsy groups; however, the differences were not statistically significant. The presence of a response over the biceps brachii muscle was zero in the PME group and showed a borderline difference compared with the other groups. Decreased probability and prolonged latencies of ASR in PME indicate inhibition of reflex circuit. A trend for decreased responses of SSS suggests hypoactive SSS in both PME and other epilepsy groups. Hypoactive ASR in PME and hypoactive SSS in both PME and other epilepsies may be attributed to the degeneration of pontine reticular nuclei in PME and functional inhibition by AEDs in both disorders.

Seizure Outcome of Patients with Magnetic Resonance Imaging-Negative Epilepsies: Still An Ongoing Debate.

BACKGROUND: Surgical results regarding MRI-negative epilepsy were presented and related clinical and histopathological parameters were discussed. METHODS: Thirty-six MRI-negative epilepsy patients were retrospectively analyzed. Histopathological specimens were re-reviewed by 2 blind neuropathologists and re-classified based on the current classifications. RESULTS: The mean age at surgery and seizure onset was 24.5 years and 9.3 years, respectively. Eight patients were younger than 18 years. Mean duration of seizures was 15.3 years. All but 2 underwent invasive monitorization. Eighteen patients had hypometabolism on FDG-PET with temporal lobe involvement in majority (66.7%). Hypometabolism was found in all patients with hippocampal sclerosis (HS), which was present in 50% and 66.7% of focal cortical dysplasia (FCD) type I and II patients, respectively. The frontal lobe resection was the most frequent type of operation followed by resections in temporal, parietal and occipital lobes. In 7 patients, multilobar resection was performed. Histopathological diagnosis was FCD type I, II, III, HS, and gliosis in 14, 12, 2, 3 and 2 patients, respectively. The mean follow-up was 5.8 years. Seventeen patients were seizure free and favorable outcome (Engel's I and II) was found in 69.7%. FCD type I tend to have more favorable seizure outcome. Duration of epilepsy and hypometabolism on FDG-PET was significantly related to outcome, whereas involved lobe was not. CONCLUSIONS: Our results suggest it is worth pursuing resective surgery in adults as well as in children with drug-resistant epilepsy with normal MRI.

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.

Reports on the clinical presentation of adult-onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile- and childhood-onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene. We retrospectively analysed medical records and electrophysiological data in order to delineate evolution of clinical and electrophysiological findings. Electrophysiological studies included routine EEG and video-EEG, as well as polymyographic analysis of myoclonus and brainstem reflex studies. Both patients had seizures and cerebellar signs. Despite the slow progression of ataxia, they developed no mental deterioration, but had severe obsessive compulsive disorder and depression. EEG revealed frequent generalized spikes, polyspikes, and waves, prominent on awakening and during photic stimulation without significant change throughout the clinical course. Abnormalities concerning the blink reflex, auditory startle response, and startle response to somatosensory inputs manifested within four years. The patients underwent transient and mild improvement with valproate, whereas ataxia and seizures were dramatically ameliorated following high-dose piracetam. Patients with adult-onset NCL may present with slowly progressive ataxia, persistent photosensitivity, and seizures without dementia or extrapyramidal findings. Brainstem abnormalities become more evident with time, in line with ataxia. Piracetam is effective for both seizures and ataxia.

Compatibility of MRI and FDG-PET findings with histopathological results in patients with focal cortical dysplasia.

PURPOSE: The present study aimed to determine if the specific characteristics of fluorodeoxyglucose-positron emission tomography (FDG-PET) analyses of the FCD subgroups were compatible with the magnetic resonance imaging (MRI) and clinical findings of the patients in these subgroups. METHODS: This study included 71 patients who had a presurgical evaluation workup performed due to drug-resistant seizures, who underwent epilepsy surgery, and who were histopathologically diagnosed with FCD. Relationships involving MRI and FDG-PET findings and clinical data from pathological subgroups and patients were assessed. RESULTS: According to the International League Against Epilepsy (ILAE) classifications of FCD, 28 of the patients were type I and 43 were type II. FCD was visible on the MRI scans of 53 patients, and a majority of this group was classified as type II FCD (n=34). Of these 53 patients, FCD was located in the temporal area of 21 patients, the extratemporal area of 29 patients. Of the patients who exhibited FDG-PET hypometabolism (PET-positive), 23 were classified as temporal, 17 as frontal, 11 showed involvement of the posterior cortex. The age of seizure onset was younger in PET-positive patients (p=0.032), and histopathological analyses revealed that 23 patients had type I FCD and 30 patients had type II FCD. CONCLUSION: PET scans reveal a lesion by showing hypometabolism in patients who have refractory epilepsy and an early age of onset with FCD. The lesions of MRI-negative/PET-positive FCD patients tend to be localized in the temporal lobe and that FCD may be localized in the frontal lobe of MRI-negative/PET-negative patients. However, the histopathological examinations of MRI-positive/PET-positive, MRI-negative/PET-positive, and MRI-negative/PET-negative patients did not exhibit a particular histopathological subtype.

A hospital-based study: risk factors in development of motor complications in 555 Parkinson's patients on levodopa therapy.

OBJECTIVES: Although levodopa (LD) is the gold standard therapy for symptomatic treatment of Parkinson's disease (PD), the chronic use of LD leads to the development of motor complications in almost all patients. PATIENTS AND METHODS: We assessed the presence and risk factors for motor complications in PD patients on LD therapy. We examined 555 PD patients on LD for the presence or absence of wearing-off (WO+/-) and dyskinesia (DK+/-). RESULTS: WO was present in 46.3%, and DK in 30.1% of patients. The mean age at onset of symptoms were earlier in WO(+)/DK(+) groups (p<0.001). The duration of PD was longer in WO(+)/DK(+) groups (p<0.001). The time between the first symptom and the occurrence of WO/DK, or LD initiation were not significantly different. The initial LD dose was significantly higher in WO(+) compared to WO(-) (300.1mg/d versus 232.5mg/d, p<0.001), and DK(+) compared to DK(-) groups (291.4 mg/d versus 251.9 mg/d, p=0.001). The time until dopamine agonist (DA) initiation was longer in WO(+)/DK(+) groups (p<0.001). WO (p<0.001) and DK (p=0.002) were more common in patients with H&Y stages 3+4. UPDRS scores were higher in WO(+) and DK(+) patients (p<0.001 and p=0.027). CONCLUSION: Our study showed that the development of motor complications was associated with early onset PD, longer disease duration, advanced disease, higher initial LD dose, longer LD use, and late DA initiation, but not with the timing of LD initiation.