Epileptic Patient with Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia and Epilepsy (MOGHE): A Case Report and Review of the Literature.

INTRODUCTION: There is an emerging interest in the literature about MOGHE (Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia and Epilepsy). We report the case of an epileptic patient with MOGHE. CASE REPORT: A 33-year-old male patient was suffering from refractory focal epilepsy since adolescence. MRI demonstrated increased T2/FLAIR signal intensity of right frontal lobe. Presurgical evaluation led to definition of epileptogenic network in a specific area of right frontal lobe. The resected specimen revealed MOGHE. Discussion. MOGHE appears to be a brain entity which shares some unique histopathological features. Review of the literature is in accordance with our patient's findings. The major neuropathological finding consists of areas with blurred gray-white matter boundaries due to heterotopic neurons in white matter and increased numbers of subcortical oligodendroglial cells with increased proliferation. MR abnormalities are present in T2/FLAIR sequences. It concerns patients with refractory frontal lobe epilepsy and appears to associate with unfavourable postsurgical outcome in seizure control. CONCLUSION: More cases are needed in order to establish more data about this distinct entity in frontal lobe epilepsy. This could be valuable knowledge to patients and doctors concerning expectations or management of undesirable outcome in frontal lobe epilepsy surgery.

Effects of anodal transcranial direct current stimulation on cognitive dysfunction in patients with progressive supranuclear palsy.

Progressive supranuclear palsy (PSP) is a tauopathy characterized by motor, neurobehavioral and disabling brainstem deficits. No disease-modifying therapeutic options exist. The therapeutic potential of transcranial direct current stimulation (tDCS) has been highlighted in studies on patients with other neurodegenerative diseases. Therefore, by drawing upon the limited tDCS literature on PSP, we conducted a pilot study in order to evaluate the effect of tDCS over motor and premotor cortex in patients with PSP, with a particular emphasis on cognitive dysfunction. Eight patients affected by PSP were included (4 males and 4 females with mean age 67.4±7.4 years, range: 55-80 years and mean disease duration: 4.6±3.3 years, range: 1-11 years). The mean Unified Parkinson's Disease Rating Scale Part III (UPDRS III) was 49±16.1 and the mean Hoehn & Yahr (H&Y) scale was 3.9±1 at baseline. All pharmacological treatments (L-dopa, pramipexole, rotigotine, rasagiline, amantadine) were maintained stable during the study. We aimed at evaluating along with the motor outcome (as it is reflected on a disease-specific rating scale), the post-tDCS cognitive status after the completion of the intervention. The clinical evaluation involved the PSP-Rating Scale, the UPDRS III and the Timed Up and Go test. Neuropsychological assessment focused on auditory-verbal memory and learning, episodic memory, visuo-motor coordination and speed of information processing, executive functions and verbal fluency (phonemic and semantic). Anodal tDCS was applied over primary motor and pre-motor cortices in 10 daily sessions. During the tDCS stimulation a constant current of 2 mA was delivered for 30 minutes. Clinical evaluations were performed at baseline, day 11, day 30 and at day 90. The PSP-Rating score (total and sections I & III) improved significantly on day 11 compared to baseline and similarly on day 30. A positive effect was also seen on action tremor. In addition to the global mental status improvement, patients showed increases in neuropsychological performance in the domains of visuo-motor co-ordination and processing speed, auditory-verbal learning, episodic memory,phonological and semantic fluency (access and retrieval from lexical memory, selective inhibition and lexical access speed). Our results suggest that tDCS has a beneficial effect on Progressive Supranuclear Palsy patients' bulbar and motor symptoms, cognitive dysfunction, as well as daily activities, which lasts beyond the duration of the treatment.

Parkinson's disease pathogenesis, evolution and alternative pathways: A review.

Sporadic Parkinson's disease (PD) is one of the most common neurodegenerative diseases of the elderly. In the scientific literature, surveys aiming to investigate the potential diagnostic biomarkers for PD have focused on skin and intestinal tissue biopsies, whereas more recent studies have reported an association between PD and skin disorders, such as seborrheic dermatitis and rosacea. In addition, a connection between PD and Crohn's disease has been established. These data suggest the hypothesis of a possible link between the gastrointestinal tract and skin and the development of PD. In fact, the nervous system, gastrointestinal tract and skin are analogous in their embryological development and, therefore, have molecular networks and pathogenic pathways in common. Based on these data, it may be assumed that the gastrointestinal tract and skin might be implicated in the pathogenesis of PD. The evolutionary hypothesis might also be a useful tool for further investigations into the overlap across neurological, gastrointestinal and skin disorders.

A pilot study and brief overview of rehabilitation via virtual environment in patients suffering from dementia.

Dementia is one of the increasing problems of modern societies. The immediate cure is not a possible solution, at least at the moment, but science has found a number of new ways to retard and under specific conditions to halt its development. A potential, and constantly evolving scientific field is the use of Computerized Cognitive Rehabilitation (CCR) and Virtual Environments (Vr.E). According to the existing literature, subjecting patients to various neuro-rehabilitative conditions within 3D virtual environments, allows them to obtain significant therapeutic benefits in which both transferability and durations over time are observed, in relation to the training period of the intervention. In the present study we examine whether "Serious Games (SGs)" - (learning and rehabilitating games in virtual and augmented reality) - have utilitarian value in the field of cognitive neurorehabilitation, concerned with demented population. For research purposes, we have conducted a number of case studies, based on 10 elderly patients, suffering from moderate or mild severity impairment of higher cortical functions, attributed to various types of dementias (Vascular, Alzheimer's disease, DLB dementia and mixed dementia). Each participant underwent rehabilitative intervention through our SG for a total of 10 hours within 4-5 weeks period. At the end of the cognitive rehabilitation program, patients' performance was assessed based in standard neuropsychological tests (measuring: working memory, memory retention, attention, problem solving, rigid thinking and executive function) and the results were compared with measurements taken before, during, and at the end of the intervention. Our experimental hypothesis states that there will be a significant difference between the results of cognitive performance of the patients between the pre- and post- rehabilitative period, consequential of the Interactive Computer-based Training (ICT). In conclusion, a review and brief analysis of the relevant literature was carried out in order to investigate the specification of potentially beneficial variables and to appreciate as much as possible the multifactorial causes related to this particular rehabilitation method of the corresponding suffering population. The ultimate purpose of our research is the design and creation of a prospective interactive cognitive rehabilitation training SG, able to combine both the neuro-rehabilitative character of the controlled virtual environment, as well as the potential realism that is also attributed to it (factual validity under high experimental realism). The results showed a relative improvement in the total of the cognitive variables under consideration after the completion of the neuro-rehabilitative program, while a parallel review of the literature on the subject revealed methodological considerations similar to those of the present study.

Can we use peripheral tissue biopsies to diagnose Parkinson's disease? A review of the literature.

Phosphorylated α-synuclein (phosαSYN) containing inclusions in neurons (Lewy bodies, LB) and nerve terminals (Lewy neurites, LN), the pathological hallmark of Parkinson's disease (PD), are not confined to the central nervous system, but have also been reported in peripheral tissues. However, the usefulness of αSYN/phosαSYN detection in tissues accessible to biopsies as a reliable biomarker for prodromal PD remains unclear. A systematic review of studies using biopsies of skin, olfactory and gastrointestinal (GI) tissues was conducted to evaluate the sensitivity and specificity of both αSYN and phosαSYN staining in PD patients. Data analysis was hampered by the diversity of the methods used, e.g. choice of biopsy sites, tissue processing, staining protocols and evaluation of the findings. Tissue obtained from GI tract/salivary glands (13 post-mortem, 13 in vivo studies) yielded the highest overall sensitivity and specificity compared to skin (three post-mortem, eight in vivo studies) and olfactory mucosa/bulb (six post-mortem studies, one in vivo study). In contrast to phosαSYN, αSYN was more consistently detectable in peripheral tissues of healthy controls. GI tract/salivary glands appear to be the most promising candidate tissue for peripheral biopsy-taking. phosαSYN is considered as the marker of choice to delineate pathological aggregates from normal αSYN regularly found in peripheral neural tissues. However, the sensitivity and specificity of phosαSYN are not yet acceptable for using phosαSYN as a reliable peripheral biomarker for PD in clinical routine. Further refinement regarding the interpretation of the peripheral αSYN/phosαSYN burden and the phenotypical definition of peripheral LB/LN is needed to optimize screening methods for prodromal PD.