F. Gokcem Yildiz

Visual Snow in Migraine With Aura: Further Characterization by Brain Imaging, Electrophysiology, and Treatment--Case Report.

This study aims to investigate characteristics of visual snow accompanied by migraine and special interest on occipital bending, electrophysiological properties, and response to treatment.

Temporal relationship between awakening and seizure onset in nocturnal partial seizures

Clinical awakening can be seen just before or after seizure onsets. In this study we determined the time between onset of seizures and awakening in patients with frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE). Sixty-eight patients who underwent video-EEG monitoring with simultaneous PSG were retrospectively examined. TLE or FLE patients having seizures during sleep were included. Seizure onset and awakening onset were marked according to clinical and electrophysiological features. The duration between awakening and seizure onset was compared in patients with TLE and FLE. Twenty-five patients who had been diagnosed with TLE (17) or FLE (8) had a total of 75 seizures during sleep. All seizures except one, occurred during NREM sleep in both TLE and FLE patients. The seizure onsets were before awakening in 49 seizures (FLE: 20, TLE: 29) and the awakening preceded the seizure onsets in 12 seizures (FLE: 3, TLE: 9). The duration between seizure onset and the awakening was shorter in FLE, either in seizures with preceding awakening or not (p=0.014, p=0.015). Awakening was mostly seen after onset of seizures rather than before, especially in TLE. But in patients with FLE the duration between seizure onset and awakening was shorter. The localization of epileptic activity may play a role for the timing of awakening mechanisms during nocturnal partial seizures.

Vincristine-induced neurotoxicity: electrophysiological features in children.

Objective: Neuropathy caused by vincristine toxicity can be diagnosed by electrophysiological examination. The purpose of this study is to demonstrate the electrophysiological features of vincristine toxicity. Methods: Electrophysiological data from 25 children receiving vincristine treatment and 25 normal controls were evaluated retrospectively. Nerve conduction study (NCS) parameters were compared. Additionally amplitude and negative peak duration (NPD) of distal compound muscle action potentials (CMAP) were analysed by factor analysis. Results: Distal CMAP amplitudes in the patient group were significantly lower and the distal CMAP NPDs were prolonged. There were no significant differences in other motor and sensory NCS parameters. Conclusion: Contrary to generally accepted sensorimotor involvement, motor NCS abnormalities are more pronounced in vincristine toxicity. The current study is the first time prolonged distal CMAP NPDs were detected and indicated in vincristine-related weakness, which may be a clue to understanding its mechanism, as well as differentiating from other situations.

Modulation of Cerebellar-Cortical Connections in Multiple System Atrophy Type C by Cerebellar Repetitive Transcranial Magnetic Stimulation

This study aims at modulating the altered cerebellar–cortical interactions in patients with multiple system atrophy‐cerebellar subtype (MSA‐C) by using cerebellar repetitive transcranial magnetic stimulation (rTMS). We hypothesized that cerebellar modulation by low–frequency rTMS can resolve the abnormal cortical excitability in multiple system atrophy cerebellar subtype.

Effects of different exercise modalities on ataxia in multiple sclerosis patients: a randomized controlled study.

Abstract Purpose: To investigate the effects of different exercise protocols on ataxia in patients with multiple sclerosis (MS). Method: A total of 42 MS patients, 17 male and 25 female (Expanded Disability Status Scale (EDSS): 3–5), were enrolled in this randomized controlled study. The patients were divided into three groups: a balance training (BT) group, a lumbar stabilization (LS) group and a task-oriented training (TT) group. All groups received balance training; additionally, the LS group received lumbar stabilization exercises, and the TT group received task-oriented training. The Berg Balance Scale (BBS), International Cooperative Ataxia Rating Scale (ICARS), Functional Reach Test (FRT), 2-Minute Walk Test (2MWT), Sensory Organization Test (SOT), and measurement of Somatosensory Evoked Potentials (SSEPs) were performed before and at the end of the 18 training sessions. Results: The BBS, ICARS, FRT, 2MWT, and composite balance score of the SOT were improved in all groups. The ICARS kinetic function sub-score and the left limb cortical onset amplitudes of SSEPs were increased significantly in both the TT and the LS groups. The ICARS total score, composite balance score, and 2MWT were different between groups (p < 0.05). According to multiple comparison analyses of the ICARS total score and the composite balance score, the LS, and the TT group were different from the BT group (p < 0.005), while the LS and the TT groups improved similarly (p > 0.005). The 2MWT results were better for the LS group than the BT group, while the BT and the TT groups improved similarly. Conclusion: Balance training alone is not sufficient for rehabilitation of ataxic MS patients. A combination of lumbar stabilization exercises or task-oriented training increases the success of balance rehabilitation. Implications for rehabilitation Multiple sclerosis is a chronic inflammatory and autoimmune disease of central nervous system and ataxia is one of the most challenging symptoms of this disease. Different exercise modalities are commonly employed to control ataxic symptoms in MS patients. Lumbar stabilization exercises or task-oriented training should be considered as complementary approach to improve balance and coordination in ataxic multiple sclerosis patients.

New mutations and genotype–phenotype correlation in late-onset Pompe patients

Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and denervation potentials were seen in all patients at the diagnosis and were disappeared during follow-up in two. Only one patient, whose MRI showed cerebral atrophy, had attention and executive dysfunction. Compound heterozygous patients with IVS 1-13T>G have a milder disease. One patient who has homozygous IVS 1-13T>G mutation had more severe disease. Two of our patients who had very severe and fatal disease course carry double mutations on both alleles (c.547-39T>G and c.858+5ins7) that previously scored as “unknown” in Erasmus Pompe Center database. Lastly, we found new mutations (c.1209 C>A, 2737dupG) in two patients carrying IVS 1-13T>G in the other allele. Systemic involvements are very rare in late-onset Pompe patients. Similarly, Pompe disease does not cause cognitive impairment in adult population. Homozygous IVS 1-13T>G mutation and c.547-39T>G mutation which are previously noted as “unknown” pathogenicities cause a more severe disease.