Electroencephalographic (EEG) patterns were analyzed in a group of ambulatory patients who ranged in age and sex using spectral analysis as well as Directed Transfer Function, a method used to evaluate functional brain connectivity. We tested the impact of window size and choice of reference electrode on the identification of two or more peaks with close frequencies in the spectral power distribution, so called “split alpha.” Together with the connectivity analysis, examination of spatiotemporal maps showing the distribution of amplitudes of EEG patterns allowed for better explanation of the mechanisms underlying the generation of split alpha peaks. It was demonstrated that the split alpha spectrum can be generated by two or more independent and interconnected alpha wave generators located in different regions of the cerebral cortex, but not necessarily in the occipital cortex. We also demonstrated the importance of appropriate reference electrode choice during signal recording. In addition, results obtained using the original data were compared with results obtained using re-referenced data, using average reference electrode and reference electrode standardization techniques.
Key Clinical Message
SPG 8 is an autosomal dominant HSP, which phenotype results from KIAA0196 gene mutations. There have been twelve types of KIAA0196 mutations described in HGMD, which are located in conservative region of gene encoding strumpellin. We describe first patient in Poland, simultaneously second in the world with KIAA0196 mutation – p.V620A.
Background. Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic disorder caused by mutation in the SLC2A1 gene. The functional deficiency of the GLUT1 protein leads to impaired glucose transport into the brain, resulting in a spectrum of neurological phenotypes. The most severe classic phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor coordination disturbances, and spasticity. The less severe clinical features, such as paroxysmal exercise-induced dystonia with or without epileptic seizures, are also observed. Aim. Hypothesis, that one possible treatment option entails intrathecal injection of glucose. Material and Methods. We describe a woman, who was diagnosed as having epilepsy and treated for years with different antiepileptic drugs with no clinical effect. She had only two generalized tonic clonic seizures in her life. The patient suffered from increasing frequency of the paroxysmal involuntary movements of lower limbs, leading to gait disturbances and falls, which were misdiagnosed as epileptic seizures. The jerks of the head and limbs were observed from the first months of her life. The symptoms were provoked by stress and exertion. Additionally, mild intellectual disability was noted during her growth. Results. Glucose concentrations in cerebrospinal fluid were low. The SLC2A1 gene analysis resulted in the identification of a heterozygous missense mutation p.Arg333Trp. identification. The diagnosis of GLUT1-DS was confirmed. Conclusion. Delayed diagnosis resulted in many problems with the acceptance of the ketogenic diet, which is considered the treatment of choice in GLUT1 deficiency syndromes. To our knowledge, this is the first case report of GLUT1-DS diagnosis occurring in adulthood and published in Poland. Key words: GLUT-1 deficiency • ketogenic diet • epilepsy • dystonia BACKGROUND Glucose is the major carbon and energy source of nerve cells, supporting brain growth and neural excitation. The glucose transporter of capillary endothelial cells located at the blood brain barrier (BBB), facilitates the passive flux of glucose from blood to brain (Wong et al., 2007) and is also responsible for astrocyte glucose
Diagnostic criteria for multiple sclerosis (MS) have been changing for years to enable easier and faster ways to confirm diagnosis especially during last decade. They lead to earlier treatment of patients with MS what gives higher likelihood to keep patients fit and capable of working. Dissemination in time (DIT) and in space (DIS) are general rules which are necessary to diagnose MS what was maintained in all diagnostic criteria, which have been published up till now [1]. Current criteria were published in 2017 and enable diagnosing MS even in patients, who earlier could not have MS diagnosed. This results from the facts that CSF oligoclonal bands present in patients with DIS without DIT are enough to MS diagnose [2]. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a disease of small vessels related to gene NOTCH3 mutations leading to symptoms of migraine with aura, recurrent ischemic incidences, cognitive impairment and behavioral disturbance.
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