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Immune checkpoint inhibitors (ICIs), such as pembrolizumab, have revolutionized cancer treatment by enhancing the immune system's response to malignancies. However, these therapies are associated with immune-related adverse events (irAEs), including neuromuscular complications such as myasthenia gravis, myositis, and myocarditis. We describe two male patients, aged 67 and 68, with small cell and non-small cell lung cancers, who developed progressive neuromuscular symptoms, including ptosis, diplopia, and generalized weakness, after receiving pembrolizumab. Clinical, biochemical, imaging, and electrophysiological findings confirmed the diagnosis of myositis with myastheniform features, with one case also involving myocarditis. Both patients underwent treatments with intravenous immunoglobulin (IVIg), pyridostigmine, and corticosteroids. The first patient, despite aggressive treatment including plasma exchange and rituximab, succumbed to complications from aspiration pneumonia. The second patient showed partial response to pyridostigmine and IVIg but later died due to metastatic cancer progression. A literature review revealed 52 cases of pembrolizumab-associated myositis with myastheniform symptoms, emphasizing its high morbidity and the need for vigilant monitoring. Pembrolizumab-associated myositis with myastheniform symptoms, especially when accompanied by myocarditis, presents a significant clinical challenge with high mortality. Early recognition and aggressive management of these irAEs are crucial to improving outcomes in cancer patients receiving ICIs., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Introduction: Medial femoral cutaneous (MFC) sensory nerve action potentials (SNAPs) can be easily recorded using distal stimulation. This study aimed to identify a new parameter using MFC SNAPs for the early electrophysiological diagnosis of length-dependent axonal polyneuropathy (LDAP) associated with uremic neuropathy., Methods: Patients with chronic renal failure who were referred to the electrodiagnostic laboratory due to symptoms suggesting polyneuropathy were included. Assessments encompassed neurological examination, Michigan Neuropathy Screening Instrument (MNSI), and Semmes-Weinstein monofilament test. Antidromic radial, median, ulnar, MFC, sural, and superficial peroneal sensory; median, ulnar, tibial, and peroneal motor nerve conduction studies were performed. Sural-to-radial amplitude ratio (SRAR) and sural-to-medial femoral cutaneous amplitude ratio (SMFCAR) were calculated, and their diagnostic sensitivities were compared with the age and sex matched healthy controls., Results: Thirty-two chronic renal failure patients (mean age 60.0 ± 9.6 years) and 37 controls (60.6 ± 9 years) were included. MNSI indicated clinical polyneuropathy in 59.4% of patients, while sural SNAP amplitude was diagnostic in 78%. Median SRAR and SMFCAR values were significantly lower in patients than controls (p < .001 for both). The cut-off values for SMFCAR and SRAR were <1.82 and <0.30, respectively, both with a sensitivity of 59% and a specificity of 94%., Discussion: Sural SNAP is the most sensitive parameter in the diagnosis of LDAP. SMFCAR is not superior to SRAR. If the sural SNAP amplitude is normal, SMFCAR can serve as an alternative to SRAR in dialysis patients with bilateral arteriovenous fistulae or in those unable to undergo radial NCS., (© 2024 Wiley Periodicals LLC.)

The depressor labii inferioris (DLI) muscle helps to lower and turn the lower lip outward and receives innervation from the marginal mandibular branch of the facial nerve. Paralysis of this muscle is a rare but potential complication of chin augmentation injections. Paralysis of the DLI causes symptoms such as difficulty smiling on the affected side, difficulty speaking clearly, and facial asymmetry, especially when smiling. In this case report, we present two female patients, aged 29 and 36 years, who were evaluated for impaired lower lip movement, asymmetry in smiling, and slurred speech following submandibular liposuction and chin augmentation. The patients were found to have DLI palsy, closely followed with facial exercises, and recovered completely within three months. Although isolated DLI palsy is rare, it may occur as a complication of various maxillofacial surgeries. Careful technique and good knowledge of facial anatomy are important to prevent complications., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Kurtoglu et al.)

Background Dysfunction in both afferent sensory and efferent motor components of the median nerve may contribute to the manifestation of the symptom of dropping objects (DO) in carpal tunnel syndrome (CTS). The objective of this study was to compare the clinical and electrophysiological characteristics of CTS patients with dropping objects (wDO) and those without dropping objects (w/oDO). The study evaluated the correlation between DO symptoms and median partial conduction block, as well as the reduction in median motor conduction velocity at the wrist. Methodology An examination for CTS and the Boston Carpal Tunnel Syndrome Questionnaire (BCTQ) were performed. Median and ulnar sensory and motor nerve conduction studies were conducted in both upper extremities, and the percentage decrease in the median compound motor action potential amplitude at the wrist level was calculated. Results The study included 201 female participants aged between 22 and 88 years, comprising 57 patients with CTSwDO, 78 patients with CTSw/oDO, and 66 healthy controls. In the CTSwDO group, compared to the CTSw/oDO group, BCTQ scores were significantly higher, the prevalence of sensory deficits was more pronounced, and a larger number of hands, both dominant and non-dominant, were classified as stage 3 or higher in the clinical CTS classification. However, no correlation was found between the presence of DO symptoms and any neurophysiological findings. Conclusions DO may be a symptom of clinical severity in CTS, as previously reported. No neurophysiological parameter that could be associated with DO was identified., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Bezmialem Vakif University Clinical Research Ethics Committee issued approval 2023/122. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Matur et al.)

Background and Aims: This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul., Methods: Patients with GBS were prospectively recruited between April 2019 and March 2022 and two electrodiagnostic examinations were performed on each patient. The criteria of Ho et al., Hadden et al., Rajabally et al., and Uncini et al. were compared for the differentiation of demyelinating and axonal subtypes, and their relations with anti-ganglioside antibodies were analyzed., Results: One hundred seventy-seven patients were included, 69 before the coronavirus disease 2019 pandemic (April 2019-February 2020) and 108 during the pandemic (March 2020-March 2022), without substantial changes in monthly frequencies. As compared with the criteria of Uncini et al., demyelinating GBS subtype diagnosis was more frequent according to the Ho et al. and Hadden et al. criteria (95/162, 58.6% vs. 110/174, 63.2% and 121/174, 69.5%, respectively), and less frequent according to Rajabally et al.'s criteria (76/174, 43.7%). Fourteen patients' diagnoses made using Rajabally et al.'s criteria were shifted to the other subtype with the second electrodiagnostic examination. Of the 106 analyzed patients, 22 had immunoglobulin G anti-ganglioside antibodies (14 with the axonal subtype). They had less frequent sensory symptoms (54.5% vs. 83.1%, p = 0.009), a more frequent history of previous gastroenteritis (54.5% vs. 22.9%, p = 0.007), and a more severe disease as compared with those without antibodies., Interpretation: Serial electrodiagnostic examinations are more helpful for accurate subtype diagnosis of GBS because of the dynamic pathophysiology of the disease. We observed no significant increase in GBS frequency during the pandemic in this metropolis., (© 2024 Peripheral Nerve Society.)

Objectives Although age is a risk factor, carpal tunnel syndrome (CTS) can also affect younger individuals, particularly those involved in activities or occupations that require repetitive hand movements, forceful gripping, or prolonged wrist flexion/extension. This case-control study aimed to examine the prevalence of CTS symptoms and frequent object dropping among a group of young dentists who are exposed to CTS risk factors. Additionally, other reported risk factors for CTS, such as sex, obesity, and square wrist sign, were also investigated. Methods A total of 74 dentists (48 women, mean age 28.5 years), who are working at Istanbul Faculty of Dentistry, the largest dental school in Istanbul, which is the biggest city in Turkey, were included in the study. Additionally, 61 age- and sex-matched controls (38 women, mean age 27.9 years) were also recruited. The Edinburgh Hand Preference Questionnaire, Boston Carpal Tunnel Syndrome Questionnaire (BCTQ), a questionnaire for object dropping and occupational hand usage, anthropometric measurements of the hands, clinical neurologic examination, and electromyography intended for the detection of CTS were performed. Results The dentists had a higher total weekly hand usage duration compared to the controls (66.3 vs 44.8 hours, p<0.001). BCTQ scores and the frequency of object dropping were also significantly higher in dentists compared to controls (respective p values: 0.011, 0.003). Positive correlations were found between BCTQ scores, hand usage durations, and object dropping (respective p values: 0.001, <0.001). BCTQ scores were higher in women than in men (p=0.027). Electrophysiologic evidence of CTS was found in one dentist. Conclusions Symptoms of CTS may manifest in individuals at a younger age than predicted, primarily influenced by their occupation and the duration of hand usage. Dentists, in particular, report a higher incidence of complaints related to object dropping, which can be attributed to their frequent use of specialized tools and engagement in delicate tasks, resulting in heightened awareness. However, it can also potentially serve as an indicator of CTS., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Matur et al.)

Introduction: Tibial somatosensory evoked potentials (SEP) are used to identify the neurological status and tethered cord (TC) in patients with spina bifida (SB). Its significance in contributing to the interpretation of urodynamics to determine bladder status is unknown. This study aimed to determine the correlation between SEP and urodynamics in children with SB., Material and Methods: SEP and urodynamic results, for differential diagnosis of TC, were evaluated. SEP scores were correlated with urodynamic findings. SEP results were scored from 1 to 6, with 1, denoting a favorable score and 6, an unfavorable score. Age, gender, detrusor, and sphincter activities in urodynamics were noted. Results were analyzed using the χ 2 test and logistic regression analysis. Receiver operating characteristic (ROC) curve was formed to get a valid threshold for the SEP score to predict the urodynamic condition., Results: There were 44 SB patients for whom SEP was done for differential diagnosis of TC. Fifteen patients who did not meet the inclusion criteria were excluded from the study. SB aperta was present in 17 patients and occulta in 12, respectively. The patients had a mean age of 6.6 ± 3.2 years. There were 13 boys and 16 girls. A strong correlation was found between high SEP scores and detrusor sphincter dyssynergia (p < 0.001). A SEP score over 3.5 was found to be 93% sensitive and 73% specific to predict this correlation. There was no relationship between detrusor activity and SEP scores (p = 0.18)., Discussion: Tibial SEP is an important noninvasive adjunct tool for the diagnosis of TC in patients with SB. Urodynamic studies are the gold standard in the evaluation of bladder status in neurogenic bladder dysfunction due to SB. Detrusor sphincter dyssynergia may be regarded as a sign of severe spinal cord injury in these patients., Conclusion: Our findings suggest that in children with neurogenic bladder, high SEP scores may predict the presence of detrusor sphincter dyssynergia but not the status of detrusor function while providing pathophysiological evidence for neural injury., (© 2023 The Authors. Neurourology and Urodynamics published by Wiley Periodicals LLC.)

Objectives: This prospective study was designed to assess whether patients with skeletal deformities show characteristic masseter inhibitory reflex (MIR) and blink reflex (BR) patterns. A secondary aim was to investigate whether these reflexes change following bilateral sagittal split osteotomy (BSSO)., Materials and Methods: Fourteen consecutive patients who underwent single-jaw BSSO and 14 class I subjects who constituted the control group were enrolled into the study. MIR and BR, obtained by the stimulation of supraorbital (SBR) and mental nerves (MBR), were electrophysiologically recorded. Sensory impairment in the mental nerve distribution was clinically tested. Three evaluation periods were specified as immediately before (T0), 1 month (T1) and 6 months (T2) after surgery., Results: MIR early silent period duration was significantly shorter in the patients at T0 (p < 0.001). Sensory deficits developed on 23 sides after BSSO, of which, 17 recovered after 6 months. At T1, MBR was inelicitable bilaterally in 3 patients and unilaterally in 2 patients. These responses were still unrecordable bilaterally in 1 patient, and unilaterally in 4 patients at T2. MIR were unrecordable on 18 sides at T1 and recovered on 11 sides at T2. There were no parallels between the clinical sensory deficits and the abnormal results of the reflexes., Conclusions: Shorter MIR in patients with dentofacial abnormalities may be a reflection of an adapted trigeminal reflex mechanism. Although MBR and MIR abnormalities do not develop parallel to the clinical sensory deficits, their course might provide insights into the disturbed trigeminal reflex pathways., (© 2021. Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Objective: Cutaneous allodynia (CA) is a common symptom in migraine. Its incidence is more frequent in the chronic migraine (CM). CA usually occurs during pain attacks. However, it can also be interictal and its frequency and severity seem to be correlated with the duration of the disease. Several quantitative sensory testing (QST) studies have revealed variable results about mechanical and thermal allodynia accompanying migraine. This study aimed to investigate the effects of CA and onabotulinumtoxinA (BoNT-A) injection on the thermal thresholds measured by QST in patients with CM. The effects of BoNT-A on headaches, CA, and other accompanying symptoms of migraine were also evaluated., Methods: Single BoNT-A injections were performed in 22 female cases (mean age: 38.1 ± 7.2 years) with CM. Patients were evaluated at 1-7 days before, 28-35, and 84-91 days after the injection. The 22 healthy women in the control group (mean age: 36.6 ± 7.6 years) were examined once. Headache and its characteristics, medication intake, allodynia, presence of anxiety, and depression symptoms were evaluated through relevant scales. The heat (HDT) and cold (CDT) detection thresholds on the forehead and hand were measured bilaterally with QST. The presence of brush allodynia for patients was examined by applying a 4 × 4 gauze pad over the same areas., Results: The patients in the CM group had migraine for an average of 22.5 ± 6.1 years and CM for 6.1 ± 3.2 years. The average number of painful days per month was 22.1 ± 4.0 days. All the patients had migraine attacks with CA (mean 5.6/month). The average allodynia symptom checklist (ASC-12) score was 7.8 ± 6.2. Thermal thresholds measured in the patients with CM were similar to those of the controls. Thermal thresholds did not show significant differences between the symptomatic and the asymptomatic sides at the last migraine attack. There was also no correlation between the allodynia revealed by the physical examination and the thermal thresholds detected by QST. The ASC-12 score decreased significantly with BoNT-A injection (p = 0.030), but no significant change was observed in thermal thresholds after this treatment., Conclusion: There was no significant correlation between CA and thermal thresholds. BoNT-A was successful in relieving headache and other associated symptoms, including CA, but had no significant effect on QST parameters., Competing Interests: Conflict of interest All authors declare no competing interests., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Motor sequence learning (MSL) paradigms are often used to investigate the neural processes underlying the acquisition of complex motor skills. Behavioral and neuroimaging studies have indicated an early stage in which spatial learning is prominent and a late stage of automatized performance after multiple training periods. Functional magnetic resonance imaging (fMRI) studies yielded both decreased and increased activations of the sensorimotor and association areas. However, task-negative and task-positive intrinsic connectivity networks (ICNs), the default mode (DMN) and dorsal attention (DAN) networks involved in governing attention demands during various task conditions were not specifically addressed in most studies. In the present fMRI study, a visually guided MSL (VMSL) task was used for bringing roles of visuospatial and motor attention into foreground in order to investigate the role of attention-related ICNs in MSL. Seventeen healthy, right-handed participants completed training and test sessions of VMSL during fMRI on the 1st day. Then, after daily training for three consecutive days outside the scanner, they were re-tested during the 5th day's scanning session. When test session after early learning period was compared with training session, activation decrease was observed in the occipito-temporal fusiform cortex, while task-related suppression of DMN was reduced. Reduced deactivation after early learning was correlated with decreased error rates. After late learning stage we observed activation decreases in bilateral superior parietal lobules of task-positive DAN, dorsal precunei, and cerebellum. Reduced activity in left posterior parietal and right cerebellar regions were correlated with gains in speed, error rate, respectively. This dissociation in activity changes of DMN and DAN related areas suggests that DAN shows high contribution during both early and late MSL stages, possibly due to attention requirement for automatization of spatial and temporal aspects of motor sequence. In contrast, spatial learning occurring during early MSL stage was sufficient for releasing DMN resources., Competing Interests: Declaration of competing interest Authors have no competing interest to declare., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

The aim of this study was electromyographic description of changes in swallowing before and after bilateral sagittal split ramus osteotomy. In this prospective study, twenty-eight patients were divided into 3 groups according to the occlusion pattern: Group I (Angle Class III), Group II (Angle Class II), and Control (Class I). Serial cone-beam computed tomography analyses and electromyographic data were collected preoperatively, 1st and 6th months after setback surgery in Group I, and advancement surgery in Group II. Swallowing reflex with 3-20 ml water bolus were studied. Patients were further divided into two subgroups according to the magnitude of relapse. The mean setback of the mandible was 4.62 ± 1.92 mm in Group I, and the mean advancement was 4.19 ± 2.00 mm in Group II. Mandibular relapse rate was 17.40%. Oral preparation phase shortened after surgery in both study groups. Two subjects in Group II and one in Group I had piecemeal deglutition, and two of them became normal postoperatively. Most of the swallowing durations of the relapsed cases were longer than those of stabilized patients. Important clinical considerations are as follows: the oral preparation period becomes shorter after surgery; piecemeal deglutition may disappear after treatment; and individuals with a longer oral period and piecemeal deglutition may have increased tendency to skeletal relapse. This multidisciplinary study enhances our understanding of the adaptive response to the swallowing reflex after orthognathic surgery and provides novel insight into the association between the submental muscle activity and relapse in orthognathic patients.

Objective: Myelomeningocele is the most severe and the most frequent form of spina bifida. Most of the myelomeningocele patients undergo operations in new-born age. In terms of life quality and rehabilitation, follow-up's of these patients in the growth and development period after the operation is critical. In our study, our aim is to emphasize the correlation of SEP results with MRI results and clinical features of the myelomeningocele patients., Materials and Methods: In our study, we included 36 patients who had undergone myelomeningocele operation and have been followed-up in Istanbul Bilim University Florence Nightingale Hospital, Spina Bifida Research and Treatment Centre. Posterior tibial nerve SEP was performed on each patient and neurological examinations were done in the same session. Results were compared with clinical functional lesion levels, levels of fusion defect and ambulation levels. In order to evaluate SEP results, we used age-related reference values from Boor et al .'s study in 2008. Patients were grouped as normal, unilaterally prolonged, bilaterally prolonged, unilaterally lost, and bilaterally lost., Results: The correlations of posterior tibial nerve SEP results were significant with ambulation levels ( r = 0.428, P < 0.01), clinical functional lesion levels ( r = 0.477, P < 0.01) and fusion defect levels ( r = -0.528 P < 0.05). The lumbar SEP results were only significantly correlated with functional lesion levels ( r = 0.443 P < 0.05)., Conclusions: Radiological studies are insufficient when evaluating the functionality of the central nervous system. To fully evaluate the functionality and watch the neurological development with accuracy, especially in operated patients, electrophysiological studies should be an indispensable part of myelomeningocele follow-ups., Competing Interests: There are no conflicts of interest., (Copyright: © 2021 Journal of Pediatric Neurosciences.)

Background: Diagnostic evaluation of patients with parenchymal Neuro-Behçet's disease (NBD) requires magnetic resonance imaging (MRI), neuro-ophthalmologic, and neuropsychological evaluation. In this study, we aimed to find out the ideal diagnostic method that most closely reflects the progress in cognitive disability and brain atrophy in NBD., Methods: In this matched case-control study, we included patients with parenchymal NBD, Behçet's disease without neurological involvement (BD), rheumatoid arthritis, and healthy controls. Detailed ophthalmological examination, pattern-reversal visual evoked potentials (prVEP) test, optical coherence tomography (OCT), brain MRI volumetry and cognitive evaluation tests were performed. Disability status was assessed by revised EDSS., Results: Sixty-eight individuals (35 female, 33 male) were recruited. Mean ACE-R scores were significantly lower in the NBD group (NBD vs. healthy, 80±14.4, 93±4.9, p=0.002). prVEP values were similar across groups, but retinal nerve fiber layer thickness (RNFLT) were more frequently abnormal in the NBD group. We found considerable volume reduction in the brainstem, cerebellum, hippocampus, and thalamus in the NBD group. Regarding prVEP, 120 minutes P100 amplitude (p<0.001, r=0.97) and 60 minutes P100 amplitude values (p=0.006, r=0.90) were positively correlated with the total cerebral white matter volume., Conclusion: Our results confirmed previous observations on cognitive dysfunction in patients with NBD. We reported MRI volumetry data of patients with parenchymal neuro-Behçet's disease for the first time and elucidated novel brain regions with atrophy. Clinically determined scores and OCT failed to predict the status of brain atrophy. prVEP P100 amplitude may be used as a surrogate marker of cerebral white matter involvement in NBD., Competing Interests: Declaration of Competing Interest The authors declare that they have no conflict of interest.

The brain-derived neurotrophic factor (BDNF) gene Val66Met polymorphism may cause impairment in short-term motor learning by reducing activity-dependent BDNF expression, which causes alterations in synaptic plasticity by changing glutamatergic and GABAergic synaptic transmissions. Sensory-motor integration (SMI) plays an important role in motor learning. In this study, we investigated the role of this polymorphism on SMI during a complex motor learning practice. Forty-three healthy participants performed standardized 5-day basketball shooting exercises under supervision. Electrophysiologic SMI studies were performed before the first day exercise (T0) and after the first and fifth day exercises (T1 and T2, respectively). SMI was studied using electrical median nerve stimulation at the wrist, followed by transcranial magnetic stimulation (TMS) of the contralateral motor cortex with various inter-stimulus intervals (ISIs). Recordings were made from the thenar and forearm flexor muscles. Participants were divided into two groups according to their BDNF genotype. Group 1 consisted of 26 subjects with the Val66Val genotype and group 2 included 17 subjects with the BDNF Met allele. Group 2 had a lower increase in basketball scores at day 5. Moreover, they had higher afferent facilitation for the responses recorded from both thenar and forearm flexor muscles at T1, but these changes could not be maintained until T2. This non-persistent early hyper-responsivity of the sensory-motor cortex in subjects with the BDNF Met allele might be explained by a transient upsurge of cortical excitability to compensate the insufficient cortical plasticity during motor learning, which could be considered as a sign of lower performance in motor skill learning., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Neurogenic heterotopic ossification (NHO) is an abnormal development of bone in extra-skeletal tissues, related to neurological disease. NHO is frequently seen after traumatic brain injury or spinal cord injury. NHO may also occur as a rare complication of Guillain Barre Syndrome (GBS). Here, we present a 39 year old man with an acute onset of GBS who developed NHO around both hips two months after the disease onset. Our patient had a history of mechanical ventilation, incomplete tetraplegia and prolonged immobilisation. The pathogenesis of NHO is unclear. Various risk factors have been associated with the development of NHO; prolonged coma, long-term sedation, spasticity, degree of paralysis. NHO is a rare complication of GBS and physicians should be aware that it can develop especially in patients with severe paralysis and in need of mechanical ventilation. Pain and restriction of movements, especially in the hips, should bring NHO to the mind., Competing Interests: The authors have no conflict of interest.

Context: Seizures and accompanying situations including social, medical, and psychiatric problems threaten the quality of life (QOL) in patients with epilepsy. The World Health Organization defines health is a state of complete physical, mental, and social well-being, and not merely the absence of disease or infirmity., Aims: This study examines the prevalence of both depression and anxiety symptoms and also impact of the affective state on QOL in patients with focal epilepsy in Turkey., Settings and Design: One hundred and five patients with focal epilepsy over 18 years old were included in this study. The patients were classified into four groups according to the presence of AS and seizure control., Subjects and Methods: Patients' affective symptoms (AS) and QOL were examined using the Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and QOL in Epilepsy Inventory-31 (QOLIE-31)., Statistical Analysis Used: We used descriptive statistics, Chi-square test, independent samples t -test, one-way analysis of variance, Mann-Whitney U-test, Kruskal-Wallis H-test, and also Pearson's and Spearman's correlation test for correlations., Results: There were positive correlations between total QOLIE-31 score and epilepsy surgery, employment, and seizure freedom, whereas negative correlations were found with antiepileptic drug use, anxiety, and depression. Statistically significant differences were found in QOLIE-31 totals and subscores between Groups 3 and 4 ( P < 0.05)., Conclusions: The presence of AS has a negative impact on QOL in patients with focal epilepsy. Physicians should be aware that psychiatric comorbidities in epilepsy have a severe impact and epilepsy treatment requires comprehensive management., Competing Interests: There are no conflicts of interest.

[This corrects the article on p. 330 in vol. 55, PMID: 30622389.].

Introduction: Migraine and temporomandibular disorders (TMD) are both common diseases and TMD are reported as a risk factor in migraine progression. OnabotulinumtoxinA is used in the treatment of chronic migraine (CM), and also has a potential role in TMD treatment. In this study, it is aimed to compare the efficacy of onabotulinumtoxinA treatment in CM patients with and without TMD., Methods: In this retrospective study, 30 CM patients (age range: 18-65 years), satisfying the inclusion and follow-up criteria in their medical records were investigated. The PREEMPT injection protocol was taken as reference and onabotulinumtoxinA 155-195 U with fixed-dose has been administered into 31 specific sites within the head/neck muscles in included subjects. Two cycles of treatment were assessed in all patients at the baseline and 12 weeks later. The headache diaries, which were completed routinely one month before, and during 6 months follow-up after the treatment, were assessed. The effect of onabotulinumtoxinA treatment was compared between CM patients with and without TMD/bruxism., Results: Of 30 female patients, 17 had concomitant TMD. In week 24, there were significant improvement in the groups with and without TMD regarding to the mean change of frequencies in the days with migraine compared to the initial findings (p<0.001). However, there was no significant difference between the two groups., Conclusions: OnabotulinumtoxinA is an effective and safe treatment for CM. Its efficacy appears to be similar in CM patients with and without TM, speculating that the comorbidity of TMD did not play a role for the treatment response., Competing Interests: Conflict of Interest: The authors declare that there is no conflict of interest.

Oromandibular dystonia (OMD) is defined as a subset of movement disorders characterized by involuntary muscle contraction in different parts of the oromandibular region. This clinical report presents a multidisciplinary approach to the management of a patient with OMD. The involuntary movement of her mandible and tongue was improved with a mandibular custom occlusal device and maxillary modified removable complete denture together with botulinum toxin A injections., (Copyright © 2017 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.)

Introduction: To investigate the prevalence and characteristics of Restless Legs Syndrome (RLS) in patients with Behçet's Disease (BD) and Multiple Sclerosis (MS)., Methods: Consecutive patients with BD and MS seen in the outpatient clinic were included in the study. As a control group, volunteer subjects without a known peripheral or central nervous system disorder were included. The BD group was divided into two sub-groups as BD with neurological involvement [Neuro-Behçet's Disease (NBD)] and BD without any neurological involvement (other BD) for further evaluation. Data on demographic characteristics, medical history and family history were collected, and all patients underwent neurological examination. The patients were evaluated for the presence of diagnostic criteria for RLS. The features and severity of RLS were evaluated in patients with RLS using Restless Legs Syndrome Identification Form, and the International Restless Legs Syndrome Study Group (IRLSSG) Rating Scale. The clinical and radiological findings of patients with BD and MS were retrieved from their medical files., Results: The study included a total of 96 patients with BD (mean age 39.9±11.8; 51 males; 41 patients with NBD) and 97 patients with MS (mean age 34.97±4.1 years; 24 males). There were 100 healthy control subjects (mean age 36.18±11.10 years; 46 males). RLS was more prevalent in MS (22.8%) and NBD (22%) groups compared to the control group (10%; p=0.004 and 0.029, respectively) with a statistically significant difference. The prevalence of RLS was higher in MS patients with less disability. Most severe RLS symptoms were observed in the MS group. The rate of sleep disorders was also higher in MS group. Although stress appeared to be a factor worsening RLS in all groups, its prevalence was higher in the MS group (p=0.011). There was no correlation between the distribution of magnetic resonance imaging lesions and RLS in both MS and NBD groups., Conclusions: It is well established that RLS can accompany disorders involving the peripheral and central nervous systems such as all types of peripheral neuropathy, myelopathy, and Parkinson's disease. The present study showed that MS and NBD also seem to be a risk factor for RLS, being associated with more severe symptoms., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors., (Copyright: © 2020 Turkish Neuropsychiatric Society.)

Introduction: Diabetes mellitus (DM) affects peripheral nerves inducing diabetic polyneuropathy (DPN). Mitochondrial dysfunction and oxidative stress are potential causes of DPN., Methods: Nerve conduction studies were performed in 20 type 2 DM patients (11 with DPN) and 15 healthy controls. Perception threshold values of cold, warm and vibration were measured by quantitative sensory testing. Variants of a superoxide dismutase 2 (SOD2) gene single nucleotide polymorphism (SNP) (rs5746136) were determined by polymerase chain reaction (PCR) and following NexteraXT DNA Library., Results: DPN patients showed significantly increased threshold values. DM patients without DPN and healthy controls showed comparable values. TT variant of the SOD2 SNP was more prevalent in DM and DPN patients. DM patients with the TT variant displayed increased perception threshold values., Conclusions: Quantitative sensory testing is not superior to standard nerve conduction studies in DPN. Carriers of SOD2 SNP manifested increased sensory threshold levels which is important in further corroborating the link between oxidative stress and DPN., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors.

Introduction: Electrodiagnostic evaluation provides an important extension to the neurological examination for the evaluation of pediatric neuromuscular disease. Many pediatric neuromuscular diseases are analogous to those seen in the adult. However, the relative frequency of these illnesses varies greatly when different age populations are compared. The purpose of the present study is to provide a retrospective analysis of children referred to our electromyography (EMG) laboratory for electrophysiological examinations., Methods: We retrospectively reviewed electrodiagnostic records of patients aged between 0-15 years, from January 2004 to June 2013. Patients were classified as having plexopathy, nerve root lesions, polyneuropathy, myopathy, mononeuropathy, anterior horn cell disease, neuromuscular transmission disorder, facial nerve palsy, and other rare disorders., Results: We reviewed totally 5563 pediatric records, which was on the average 578 studies per year. It was about 14% of the all EMG examinations performed in our laboratory. When we looked at all the procedures, 3271 of the records included needle EMGs, 170 of them were single fiber EMGs, 100 of them were repetitive nerve stimulations, and 52 of them were evoked potentials. The results were normal in 55% of the cases. As a result of electrophysiological examinations, the common diagnoses were: plexopathy (28.6%), polyneuropathy (7.4%), and myopathy (6.6%) in patients aged 0-5 years (41.2% of all records); myopathy (9.4%), PNP (8.5%), mononeuropathy (6.4%), and plexopathy (5.9%) in 6-10 years (28.2% of all records); PNP (11.3%), myopathy (6.6%), and mononeuropathy (5.6%) in 11-15 years (30.6% of all records)., Conclusion: Infants and toddlers mostly suffered from brachial plexopathy which can be prevented by proper obstetrical management. Nerve conduction studies and EMG yielded diagnostic importance for demyelinating neuropathy and myopathy in patients older than 6 years of age., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors.

The effect of sensory signals coming from skin and muscle afferents on the sensorimotor cortical networks is entitled as sensory-motor integration (SMI). SMI can be studied electrophysiologically by the motor cortex excitability changes in response to peripheral sensory stimulation. These changes include the periods of short afferent inhibition (SAI), afferent facilitation (AF), and late afferent inhibition (LAI). During the early period of motor skill acquisition, motor cortex excitability increases and changes occur in the area covered by the relevant zone of the motor cortex. In the late period, these give place to the morphological changes, such as synaptogenesis. SAI decreases during learning the motor skills, while LAI increases during motor activity. In this review, the role of SMI in the process of motor learning and transcranial magnetic stimulation techniques performed for studying SMI is summarized., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors.

Introduction: Cramp-fasciculation syndrome (CFS) is a rare peripheral nerve hyperexcitability syndrome. There are only a few reports on clinical and serological profile of a CFS cohort that was followed up by a single outpatient clinic., Methods: Clinical, electrophysiological, and serological features of 6 CFS patients (5 men, 1 woman; 27-65 years old) were investigated., Results: All patients presented with cramps, fasciculations, muscle pain, and autonomic symptoms, and 2 also reported numbness and burning sensation in limbs, suggestive of neuropathic pain. Antibodies to uncharacterized voltage-gated potassium channel (VGKC)-complex proteins were found in 2 patients and to contactin-associated protein-like 2 (CASPR2) in 1 patient. None of the patients had a tumor. Most of the patients revealed prolonged after-discharges following tibial nerve stimulation. Nerve conduction studies and R-R interval variability tests were normal, whereas sympathetic skin responses were increased in amplitude in 3 seronegative patients. Five patients showed favorable response to carbamazepine or pregabalin treatment, whereas 1 VGKC-antibody-positive patient was resistant to carbamazepine and immunosuppressant treatment., Conclusion: Neuropathic pain and VGKC-complex antibodies may be encountered in CFS patients. Although autonomic symptoms are commonly found in CFS, routine autonomic system tests which are done in electrophysiology laboratories might yield normal results., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors.

Introduction: We aimed to determine the effect of short day-time sleep on photoparoxysmal epileptic activity in sleep-deprived patients., Methods: We retrospectively reviewed video-EEG recordings performed between 2003 and 2015. All recordings following at least four hours of sleep deprivation, including intermittent photic stimulation (IPS) both before and after sleep with any form of epileptiform activity were included. The study group was divided into four subgroups: (1) no photoparoxysmal response (PPR) group, with epileptiform activities other than PPRs; (2) increment group, with PPR duration increased by ≥200% after vs. before sleep; (3) no significant change group, with PPR duration increased between 50% and 200% after vs. before sleep; (4) decrement group, with PPR duration increased ≤50% after vs. before sleep., Results: A total number of 5805 EEG recordings from 459 patients was analyzed. Photosensitivity was present in 98 patients (21.4%). The PPRs after sleep were increased in 70% of the photosensitive patients, did not change in 23%, and were decreased in 7%. The increase in duration of PPRs was statistically significant (P<0.001). In our cohort, photosensitivity would have been detected in 67 patients if IPS was applied only before sleep and in 91 patients if IPS was applied only after awakening (P<0.05)., Conclusions: This study demonstrates that photosensitivity is enhanced after awakening from a short sleep following sleep deprivation. Thus, we recommend performing IPS after awakening to increase sensitivity to detect photoparoxysmal epileptiform discharges., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Purpose: We aimed to investigate juvenile myoclonic epilepsy (JME) patients complaining of tremor unrelated to valproate (VPA) treatment and evaluate if there were differences between JME patients with and without tremor and essential tremor (ET) patients to exclude comorbidity., Methods: Fifteen JME cases with the complaint of tremor, 14 JME patients without tremor, 14 patients with ET and 14 healthy subjects (HS) were included. Regularity, frequency and amplitude of the tremor and superimposed myoclonia were assessed by accelerometric analysis. Cortical SEPs evoked by the stimulation of the median nerve were recorded bilaterally. Clinical and neurophysiologic features were statistically compared between the groups., Findings: Amplitude of postural tremor of the left hand was significantly increased in the ET group compared to JME patients with tremor, but there were no differences regarding to frequency. Strikingly, there were superimposed irregular, low-amplitude inconstant myoclonic jerks located to distal part of the fingers in JME group with tremor. Initial frequency of myoclonic seizures was also significantly higher in this group compared to JME patients without tremor but this difference disappeared after treatment. The group of JME with tremor had the highest N20-P25 and P25-N35 amplitudes, followed by JME without tremor, ET and HS, respectively., Conclusion: Tremulous hand movements in JME resembled ET, but their amplitude was lower and characterized with accompanying irregular myoclonic jerks. The presence of tremor in JME patients should be taken into consideration to create more homogeneous groups in genetic and pathophysiological studies of JME., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Introduction: Recent studies showed that hippocampal sclerosis (HS) patients with unilateral involvement had more diffuse cognitive impairment than expected. Therefore, we aimed to compare the cognitive profiles of bilateral HS (BHS) patients with unilateral HS (UHS) patients., Methods: Consecutive patients, diagnosed with epilepsy, who fulfilled two major magnetic resonance imaging (MRI) criteria (T1 atrophy and T2-FLAIR hyperintensity) for HS were included. Standard neuro-psychological test (NPT) battery consisted of the Turkish version of 15-word verbal memory processes test, Wechsler memory scale visual reproduction subtest, forward and backward digit span, phonemic and semantic fluency, and Stroop test were applied; and the groups with right HS, left HS, and bilateral HS were compared statistically., Results: Ninety-one patients, completing the NPT (34 males, 57 females)-16 with BHS, 36 with right HS, and 39 with left HS-were included. Six out of 43 operated patients had BHS. There were no significant differences in education and handedness of the groups. Even though NPT performances of the BHS group were found to be poor compared to UHS subgroups, this was beyond statistical significance. Comparison of BHS with the right HS group showed a significant difference in the learning score of the Verbal Memory Processes Test, but recognition scores were found to be similar in all groups. Compared to the BHS group, both right and left HS groups revealed a significant difference in delayed recall score of the Verbal Memory Processes Test. Although there were no significant differences in the postoperative parameters of the BHS group, UHS subgroups had deficits in many postoperative parameters., Conclusion: Our study revealed that bilateral involvement of the hippocampi was correlated with a poor cognitive performance. Retrieval failure, rather than a total recall problem, in the memory of the patients resembles a more diffuse involvement not only limited to limbic structures., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors.

Introduction: Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) syndrome is a genetically heterogeneous and under-recognized disease characterized by tremulous movements mimicking essential tremor, myoclonus, and rare generalized tonic-clonic seizures. Here we described the clinical and electrophysiological features of three siblings with ADCME syndrome mimicking juvenile myoclonic epilepsy (JME)., Methods: Three siblings (two females and one male) diagnosed with ADCME were analyzed by electroencephalogram (EEG), somatosensory evoked potentials, and accelerometric recordings. The results were compared with 14 JME patients without tremor and 14 with essential tremor (ET)., Results: The shared features of the siblings were cortical tremor, myoclonia, epilepsy, migraine, and psychiatric symptoms. In all siblings, tremor had started before myoclonic epilepsy associated with 4-6 Hz generalized spike and wave discharges. The N20-P25 and P25-N35 amplitudes were substantially higher in the three siblings with ADCME. Although tremor frequencies were similar to those of the ET group, the siblings had mild interrupting low-amplitude myoclonus, suggestive of cortical tremor, in the accelerometric analysis., Conclusion: We presented a detailed clinical evaluation with electrophysiological confirmation of ADCME syndrome in a Turkish family. This rare clinical picture might be misdiagnosed as JME and should be kept in mind to ensure correct diagnosis and to provide a homogenous group for genetic studies., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors.

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic accumulation of amyloid fibrils that result in organ dysfunction. TTR-associated FAP is a progressive and fatal disease, if left untreated, and should be considered in the differential diagnosis of any person presenting with a progressive polyneuropathy, particularly with accompanying autonomic involvement. The clinical, electrophysiological, histopathological, and genetic characteristics of 17 patients from Turkey (5 female, 13 male) from nine families with polyneuropathy and mutations in TTR were evaluated. Sequence analysis of the TTR gene revealed five mutations (Val30Met, Glu89Gln, Gly53Glu, Glu54Gly and Gly47Glu). Mean age at disease onset was 40.4 ± 13.9 years (range 21-66 years). The most commonly reported initial complaint was paresthesia in the feet (asymmetric in three patients). Three patients (2 male) with the Glu89Gln mutation presented with carpal tunnel syndrome. Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype. Seven patients died during the period of follow-up as a result of systemic involvement. Our study suggests that a cohort of patients from Turkey with TTR-FAP exhibits clinical and genetic heterogeneity., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Purpose: Generalized paroxysmal fast activity (GPFA), an EEG pattern with variable frequency and duration, is usually noted in symptomatic/cryptogenic generalized epilepsies. However, GPFA has also been reported in a few patients with genetic generalized epilepsy (GGE) who presented with typical absence seizures (TAS). Our aim was to report the results of long-term follow-up and genetic findings in these patients., Methods: We investigated all EEGs of adult GGE patients with TAS, and identified 12 patients with GPFA (8.3% of adult GGE patients with TAS). Ten of these patients were available for long-term follow up. Their clinical and electroencephalographic courses and genetic features were investigated. The control group was composed of 24 adult GGE patients who also had TAS, but lacking GPFA with a similar follow-up duration in the same epilepsy center., Results: The mean age at GPFA detection was 33±16.6 (16-71 years) and 80% still had GPFA in their last EEG. The duration of epilepsy and persistence of TAS were both significantly longer in the GPFA group despite a similar follow-up duration. Sixty percent of the GPFA group had consanguineous parents, whereas this rate was only 4.17% in the control group. Seven relatives of the GPFA group also had epilepsy. We could not show any known mutations in two families. At the end of the follow-up, none of the patients with GPFA was dependent in self-care, despite continuing seizures., Conclusion: Our study shows that GPFA is an ignored EEG pattern of adult GGE patients with TAS, indicating a long and non-remitting course in almost all of the patients., (Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Purpose: Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4 Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMT1A neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive disease has not been associated with copy-number variation as a mutational mechanism., Methods: We performed Agilent 8 × 60 K array comparative genomic hybridization on DNA from 12 recessive Turkish families with CMT disease. Additional molecular studies were conducted to detect breakpoint junctions and to evaluate gene expression levels in a family in which we detected an intragenic duplication copy-number variation., Results: We detected an ~6.25 kb homozygous intragenic duplication in NDRG1, a gene known to be causative for recessive HMSNL/CMT4D, in three individuals from a Turkish family with CMT neuropathy. Further studies showed that this intragenic copy-number variation resulted in a homozygous duplication of exons 6-8 that caused decreased mRNA expression of NDRG1., Conclusion: Exon-focused high-resolution array comparative genomic hybridization enables the detection of copy-number variation carrier states in recessive genes, particularly small copy-number variations encompassing or disrupting single genes. In families for whom a molecular diagnosis has not been elucidated by conventional clinical assays, an assessment for copy-number variations in known CMT genes might be considered.

Purpose: Identification of abnormal motor unit potentials (MUP), in particular those caused by myopathic processes, is generally difficult in facial muscles because the MUPs are already low in amplitude and short in duration. Therefore, quantitative measures for the limits of abnormality are needed more frequently for these muscles, especially for the pathological processes predominantly affecting the craniofacial area. In this study, we aimed to determine some quantitative values that may help us to differentiate "myogenic" and "neurogenic" processes in periocular muscles., Methods: The frontalis muscle was examined unilaterally with multi-MUP and interference pattern analyses in 32 normal subjects, 31 patients with different types of myopathy, and 13 patients with facial palsy. Abnormality limits were calculated by using five previously suggested methods, two of which were based on group means and the other three on determining the outlier values. The sensitivity and specificity of multi-MUP and interference pattern parameters in discriminating abnormal findings by using these different methods were analyzed., Results: Statistically significant differences for all MUP parameters, except for the frequency, was found between the groups (P < 0.001). Motor unit potential duration, size index, and amplitude were the most valuable parameters for distinguishing the individual abnormalities. However, their discriminating power was higher for neuropathies than for myopathies. Interference pattern analysis was found not to have any superior sensitivity to MUP analysis. In this study, the outlier analysis that depends on the 5th to 95th percentile limits of the pooled data provided the best power for the discrimination of both neuropathies and myopathies from normal subjects., Conclusion: Multi-MUP analysis seems to be helpful in differentiating the patients with neurogenic and-to a lesser extent-myogenic facial muscle involvement.

Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.

Introduction: In the demyelinating form of Charcot-Marie-Tooth disease, median motor conduction velocity (MCV) was noted to be around 20 m/s in peripheral myelin protein 22 (PMP22) duplications, in contrast to higher MCVs in connexin 32 gene (Cx32) mutations and lower MCVs in the demyelinating form of myelin protein zero gene (MPZ) mutations., Methods: Nerve conduction studies were performed in 64 families with both common and rare mutations., Results: Mean MCV of the median nerve was 20 ± 5 m/s in PMP22 duplications, 34 ± 6 m/s in Cx32 mutations, 20 ± 9 m/s in KIAA1985 (SH3TC2) mutations, and 11 ± 8 m/s in MPZ mutations. Conduction was generally uniform; however, conduction blocks were present in 1 patient each with the MPZ mutation and PMP22 duplication, both with unusual phenotypes., Conclusion: Our results confirm those of the other investigators. Electrophysiological results of the rare KIAA1985 (SH3TC2) mutation reveal that their MCVs span a broad range and that conduction is uniform., (Copyright © 2010 Wiley Periodicals, Inc.)

Therapeutic use of botulinum toxin type A (BT/A) is well known, effective, and safe. Iatrogenic botulism that presents with generalized weakness, dysphagia, and respiratory distress is a rare but significant complication in BT/A treatment. In this study, we report 4 patients who developed iatrogenic botulism after receiving therapeutic doses of BT/A for spasticity and blepharospasm. One patient was placed in intensive care unit, but consequently, every patient recovered fully. The cause of BT/A as an adverse effect is most likely hematological spread of the toxin.

Purpose: To investigate the focal interictal EEG abnormalities in adult patients with absence seizures (ASs) and to identify their clinical, EEG and semiological correlates., Methods: Fifty patients older than 18 years, diagnosed as having IGE with AS documented with ictal recordings. Interictal focal sharp or spike-waves and strictly focal paroxysmal slow activity were considered as focal EEG features. The patients having focal EEG features were classified as "Group I", whereas the remaining of them was classified as "Group II"., Results: We observed focal findings in 34% of the patients, mainly in frontotemporal (41%), and frontal (29%) regions. There were no significant differences with respect to the clinical parameters such as sex, epilepsy duration, positive family history and the age of the onset between the groups. Psychiatric co-morbidities were significantly higher in Group I when compared to Group II (P=0.00). Accompanying automatisms were higher in Group I, whereas eye deviation during absences was higher in Group II. In Group I, the asymmetry of the ictal discharges was more frequently observed. Focal EEG features were more frequently seen in juvenile absence epilepsy syndrome, without reaching a significance level., Conclusion: The focal findings in adult absence epilepsy patients could have some unknown etio-pathogenetic and prognostic implications. We emphasize the cautious interpretation of isolated interictal focal EEG abnormalities to prevent a wrong diagnosis of focal epilepsy in patients who may indeed suffer from generalized epilepsy.

Background: Acquired hepatocerebral degeneration (AHD) and hepatic myelopathy (HM) are rare complications of chronic liver disease and are usually resistant to medical therapy., Materials and Methods: The clinical and laboratory findings of 14 male and 2 female patients with AHD or HM were evaluated., Results: The prevalence of AHD and HM was 2% inpatient case series in the last 10 years. The median age of the patients (5 Child's B and 11 Child's C) was 48.7 years (28 to 66 y), and the mean known duration of the liver disease was 75 months (24 to 194 mo). The median time of onset of neurologic findings after diagnosis of the liver disease was 14.5 months. Eight patients who had marked spastic paraparesis or tetraparesis were included in the HM group and all others had AHD group. Sixty-nine percent of the patients had a spontaneous or surgical portosystemic shunts, and the remaining dense retroperitoneal collaterals. During the follow-up period of median 29 months (4 to 72 mo), 12 patients died while waiting for liver transplantation, and these patients suffered from the several complications of chronic liver disease more than the living patients. A marked improvement was observed in 2 of the patients (1 with AHD and the other with HM) at 6 and 8 months after the liver transplantation, respectively., Conclusions: Our data suggest that liver transplantation had an important effect on the improvement in these patients.

Purpose: To describe the characteristics of patients with typical absence seizures (TASs), consistently triggered by photosensitivity., Methods: Consecutive patients having TAS induced by intermittent photic stimulation were included in the study. All clinical parameters, EEG, and video-EEG data were assessed during the long-term follow-up. Statistical analyses were performed with SPSS 10.0 software., Results: Nine female and two male patients with a mean age at onset of 14 +/- 5.9 years (range, 7-27 years) and with a mean follow-up of 9 +/- 7.56 years had photosensitive TASs. They constituted 7.64% of absence epilepsies and 0.4% of all patients seen in our tertiary center. The seizures were usually subtle and had a reported frequency of 1 to 9 times daily. Seven patients were clinically photosensitive and reported that some of their TASs were induced by photic stimuli in daily life. All patients also had spontaneous TASs, and four of them had generalized tonic-clonic seizures. EEG results did not show any distinctive features when compared with those of other cases with TASs. Remission could not be achieved in five patients with antiepileptic drug treatments, and we always observed relapses after drug discontinuation or dose reduction in the remaining six cases in remission. Spontaneous remission did not occur even in the five patients older than 30 years., Conclusions: TASs triggered by photosensitivity are a rare and heterogeneous clinical condition with a marked female preponderance. It is notable that TASs do not remit in these cases.

A young man with a 13 year history of Tourette disorder and obsessive-compulsive disorder developed mania on clomipramine. Quetiapine 600 mg, daily was followed by resolution of the mania and improvement of the symptoms of Tourette disorder and obsessive compulsive disorder. It seems that quetiapine may be useful in treatment of Tourette disorder with or without comorbid disorders.