神経学的障害

In addition to motor symptoms, Parkinson’s disease (PD) involves significant non-motor sequelae, including disruptions in cognitive and emotional processing. Fear recognition appears to be affected both by the course of the disease and by a common interventional therapy, deep brain stimulation of the subthalamic nucleus (STN-DBS). Here, we examined if these effects extend to other aspects of emotional processing, such as attentional capture by negative emotional stimuli. Performance on an emotional attentional blink (EAB) paradigm, a common paradigm used to study emotional capture of attention, was examined in a cohort of individuals with PD, both on and off STN-DBS therapy (n=20). To contrast effects of healthy aging and other movement disorder and DBS targets, we also examined performance in a healthy elderly (n=20) and young (n=18) sample on the same task, and a sample diagnosed with Essential Tremor (ET) undergoing therapeutic deep brain stimulation of the ventral-intermediate nucleus (VIM-DBS, n=18). All four groups showed a robust attentional capture of emotional stimuli, irrespective of aging processes, movement disorder diagnosis, or stimulation. PD patients on average had overall worse performance, but this decrement in performance was not related to the emotional capture of attention. PD patients exhibited a robust EAB, indicating that the ability of emotion to direct attention remains intact in PD. Congruent with other recent data, these findings suggest that fear recognition deficits in PD may instead reflect a highly specific problem in recognition, rather than a general deficit in emotional processing of fearful stimuli.

Introduction: Friedreich ataxia (FRDA) is the most common hereditary ataxia now. It is inherited as an autosomal recessive disease. Most of the patients are homozygotes, with an expansion of a GAA triplet in both alleles of the first intron of the frataxin gene (FXN, 9q13) (95-98% of the patients). The rest of the patients are heterozygotes with an expansion in only one allele and a point mutation in the other. These cases are more difficult to diagnose due to the low prevalence and the needed of enlarge molecular tests. Case Report: An ambulant 42-year-old man was referred to our hospital due to gait instability that had started 7 years ago. A clinical examination showed gait ataxia, areflexia, decrease vibration sense, scoliosis, and pes cavus. Results and Discussion: Laboratory tests, neuroimaging and neurophysiologic studies had been done since then without relevant findings. Somatosensory evoked potentials were also done and described a sensitive axonal neuropathy with an affectation of the posterior columns of the spinal cord. Due findings of 300-350 repetitions of GAA in one allele and the point mutation R165C in the other that confirmed the diagnosis. Conclusion: This case report highlights that, although most patients of Friedreich ataxia are usually homozygotes, there are a small number of patients that are heterozygotes and can have different phenotypes being important to identify them to give genetic counselling and detect new complications that suppose a risk for their lives.

Introduction: Epilepsy is a common disease in sub-Saharan Africa. The etiological diagnosis of epilepsies is still based on interrogation and clinical examination, due to a lack of means of complementary diagnostic investigations, electroencephalogram (EEG), computed tomography (CT) or magnetic resonance imaging (MRI). The aim of our study was to determine the etiological varieties of non-genetic epilepsies of adults, newly diagnosed in Ouagadougou, according to diagnostic, clinical, EEG and neuroradiological criteria (encephalic CT and/or MRI). Patients and methods: This was a prospective, cross-sectional, descriptive study that ran from September 1 to August 31, 2017, and included patients diagnosed with non-genetic epilepsy in adults, newly diagnosed in Ouagadougou, Burkina Faso. For each of the patients included in the study, the etiological diagnosis was based on the results of CT and /or brain MRI, in addition to the electroclinical criteria of non-genetic epilepsy. Results: We collected 137 patients; the average age was 41.8 ± 17.6 years, with 51.8% men (71 patients). The average age of onset of seizures was 34.3 years and the average duration of seizures was 7.3 years. Of all patients, 87.5% had focal seizures, 5.2% generalized seizures and 7.3% non-classifiable seizures. All of our patients had EEG and brain scan, only 11.8% had brain MRI. EEG was normal in 13.1%; there were inter-critical epileptic paroxysms in 86.9%. Localized atrophy associated with underlying parenchymal hypodensity with 48 cases (35%), porencephalic cavities with 16 cases (11.8%), circumscribed cortico-subcortical hypodense without contrast enhancement with 14 cases (10.2%), brain tumors with 12 cases (8.8%), were the most representative neuroradiological abnormalities. The structural causes and unknown causes were found respectively in 54% and in 46% of cases. CNS infections (16.8%), sequelae of stroke (11.7%), sequelae of cranioencephalic trauma (10.9%), brain tumors (8.7%), sequelae of Perinatal encephalopathy (4%) and cerebral vascular malformations (cavernoma) (1.5%) were the epileptogenic structural abnormalities found. Conclusion: Our results confirm the predominance of infectious and post-traumatic causes and the emergence of cerebrovascular causes in sub-Saharan Africa. Some epileptogenic lesions, such as certain brain tumors, focal cortical dysplasias, hippocampal sclerosis, have been under diagostized because of the poor availability and accessibility of cerebral MRI.

Background: Using antipsychotic polypharmacy is a routine practice despite the instructions and guidelines of avoiding such combinations till several successful trials upon antipsychotic combinations usage. This practice exposes severe side effects over the patient and also poses burden by unnecessary expenses. On the other hand, antipsychotic polypharmacy also has some benefits and most medical practitioners prescribe antipsychotic combinations in order to treat difficult and acute psychosis. Now-a-days, use of antipsychotic polypharmacy is common among psychiatric patients. There is gap due to low empirical evidences in support of its benefits, safety, risks, efficacy and proper way of practicing till now. There is no data available published at local level in Malaysia in spite of recurrent and more prevalent usage of antipsychotic polypharmacy. To determine the proportion and pattern of antipsychotic polypharmacy prescriptions and their possible risks among patients, this study was conducted. Methodology: This cross-sectional study was conducted over the patients prescribed with antipsychotic polypharmacy at Kajang Hospital, Malaysia from June until August 2017. Retrospective data was collected for patients who were admitted in the past 1 year (January 2016 to December 2016). The risk and usage of polypharmacy were assessed on the basis of clinical outcomes and range of prescription as medication non-adherence, adverse drug effects, drug-drug interaction, inappropriate prescriptions, hospitalization, functional decline and mortality resulted either by antipsychotic polypharmacy or due to monotherapy effects. Results: A total of 100 patients were included in this study. Overall there were 120 cases detected in this research. Sixty-two cases out of the total 120 were prescribed antipsychotic monotherapy, while 58 cases prescribed with antipsychotic polypharmacy medications. The use of polypharmacy as antipsychotic medications accounted for almost half of total cases with 48%. It was also found from this study that duration of illness had statistically significant association with antipsychotic polypharmacy (P<0.05). Polypharmacy in antipsychotic treatment caused adverse effects like hyperprolactinemia and EPS. Some other adverse effects were associated with monotherapy and polytherapy medications such as weight gain, hyperlipidemia, and metabolic syndrome but these were not statistically significant. Conclusion: The antipsychotic polypharmacy was high in proportion. Prescription of antipsychotic polypharmacy was concerned with severe side effects. While prescribing antipsychotics for diabetics and obese patients, caution must be taken. To enhance the prevention and management of these medications, there must be more information about risk and usage of antipsychotic polypharmacy.