Journal of neurological disorders最新文献

{"title":"The Enigma of Erooms law and the wall street math stifling Alzheimers drug discovery","authors":"Max Tokarsky","doi":"10.4172/2161-0460-C8-056","DOIUrl":"https://doi.org/10.4172/2161-0460-C8-056","url":null,"abstract":"","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42415624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physical exercise ensures health and longevity in brain integrity","authors":"T. Archer","doi":"10.4172/2329-6895-C1-025","DOIUrl":"https://doi.org/10.4172/2329-6895-C1-025","url":null,"abstract":"","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48669984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disability evaluation: Disability or malingering?","authors":"Anthony Lee","doi":"10.4172/2329-6895-c1-026","DOIUrl":"https://doi.org/10.4172/2329-6895-c1-026","url":null,"abstract":"","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":"06 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70267512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperechogenicity of Lenticular Nuclei in Primary Cervical Dystonia","authors":"Agnieszka Krzak-Kubica, S. Ochudło, J. Gawryluk, K. Pawlicki, Monika Rudziń ska-Bar","doi":"10.4172/2329-6895.1000380","DOIUrl":"https://doi.org/10.4172/2329-6895.1000380","url":null,"abstract":"Dystonia is one of the most common movement disorders, but the pathogenesis of primary dystonia is not fully understood. One of the proposed pathomechanisms is the deficiency or dysfunction of ATP-dependent Menkes protein responsible for the extracellular transport of copper within subcortical nuclei, the lack of which could lead to increased accumulation of copper in the lenticular nucleus (LN). In 1995, Naumann et al. performed transcranial sonography (TCS) on patients with dystonia for the first time. Other researchers confirmed more frequent occurrence of hyperechogenic LN more than 70% patients with cervical dystonia. The aim of our study was therefore to evaluate the prevalence of hyperechogenic changes in lenticular nucleus of the brain in patients with cervical dystonia. 108 patients were considered eligible for inclusion; 42 of them were subsequently excluded due to occurrence of exclusion criteria. Thus, the study involved 66 patients and 71 controls. Hyperechogenicity of the lenticular nucleus was found more often in patients with cervical dystonia than in controls (p<0.0001). It was unilateral in majority of patients (75.8%). The average surface area of hyperechogenic changes is bigger in dystonic patients compare with control group 0,05 (± 0,10) vs 0,005 (± 0,02) on the left side and 0,10 (± 0,12) vs. 0.004 (± 0.02) on the right side. Hyperechogenicity of lenticular nuclei were observed in the case of 8 patients (11.2%) within the control group and they were unilateral changes. Substantia nigra hyperechogenicity did not differ between the two groups. We did not find a correlation between the size of the observed changes and dystonia severity or duration of the disease. The only correlation was the association between the width of the third ventricle and age of patients. We suggest that the hyperechogenic changes within the lenticular nuclei are prevalent in patient with primary cervical dystonia and are an important diagnostic clue.","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":"6 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2018-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46552376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intra- and inter-familial phenotypic heterogeneity of the m.7510T>C variant","authors":"J. Finsterer, S. Zarrouk-Mahjoub","doi":"10.4172/2329-6895.1000381","DOIUrl":"https://doi.org/10.4172/2329-6895.1000381","url":null,"abstract":"In a recent article Kytovuori et al. reported a Finnish family with phenotypically variable multiorgan disease manifesting in the brain, ears, and endocrine organs, due to the variant m.7510T>C in the MT-TS1 (tRNA(Ser)) gene with high heteroplasmy. We have the following comments and concerns.","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":" ","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2018-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2329-6895.1000381","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42738716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypoglossal Nerve Palsy due to Occipito-Cervical Kyphosis: A Case Report","authors":"Tomohiro Watanabe, M. Anno, Y. Matsubayashi, Yoh Fujimoto, Naohiro Tachibana, Y. Taniguchi, Y. Oshima, Sakae Tanaka","doi":"10.4172/2329-6895.1000379","DOIUrl":"https://doi.org/10.4172/2329-6895.1000379","url":null,"abstract":"Hypoglossal nerve palsy (HNP) is a potential cause of dysphagia. There have been few reports presenting with HNP associated with spinal diseases. Here, we report a case of HNP caused by postoperative upper cervical deformity. A 66-year-old man presented to our hospital with dysphasia and neck pain. One year prior to his first visit, he had been diagnosed with upper cervical tuberculosis and had undergone posterior C1-C2 fixation. These symptoms, however, further worsened nine months after the initial surgery. The physical examination led to the diagnosis of HNP. Radiographic examination revealed that the O-C kyphosis had been exacerbated and that this deformity was likely the primary cause of HNP. To restore the swallowing function, O-C fusion surgery was performed. Postoperatively, the patient showed immediate improvement of dysphasia with gradual recovery of hypoglossal nerve function. Our results indicate that the kyphosis in O-C junction would be a potential cause of HNP.","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":"6 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2018-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41972243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dysregulation of Intracellular Ca2+ and Camp Signalling: Plausible Targets for Neurological Disorders","authors":"L. Bergantin","doi":"10.4172/2329-6895.1000e125","DOIUrl":"https://doi.org/10.4172/2329-6895.1000e125","url":null,"abstract":"My current field of research involves the study of the interaction between Ca2+ and cAMP signalling pathways, including its role in neurological disorders. The scientific literature now clearly accepts this interaction as a fundamental cellular process, which is also involved in synaptic transmission mainly by controlling neurotransmitter release [1]. In several synapses, Ca2+ signalling has been considered as one of the main actors in this arena! Almost every undergraduate student knows that elevating Ca2+ within neuronal cells is crucial to start the release of neurotransmitter! Indeed, Ca2+ is an ion that participates in almost everything within the steps of neurotransmitter release. However, its dysregulation may lead to toxic effects, growing into diseases like the neurological disorders. This concept is newer and, probably, not all students know it! Indeed, dysregulations of intracellular Ca2+ signalling achieved, for example, due to an excess of Ca2+ influx through voltageactivated Ca2+ channels, and yet disturbances of Ca2+ release from ryanodine and/or IP3-sensitive intracellular Ca 2+ stores have been reported in age-related animal models [2]. Several of these alterations in Ca2+ signalling, described in normal aging, can be replicated by exposing neurons to oxidative and metabolic stress in culture or in vivo, suggesting important contributions of essential aging mechanisms to the dysregulation of neuronal Ca2+ signalling in neurological disorders, such as in Alzheimer ́s disease (AD). Furthermore, reports from brain tissue samples performed through brains of AD patients, and animal models of AD, have discovered significant changes in levels of proteins and genes directly related to neuronal Ca2+ signalling [2]. Not surprisingly, environmental factors that prevent amyloidogenesis (caloric restriction, cognitive stimulation, and antioxidants) alleviate neuronal Ca2+ signalling dysregulation, whereas factors that improve amyloidogenesis disrupt Ca2+ homeostasis.","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":"6 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2018-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43075144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Friedreich Ataxia: Clinical Report of an Uncommon Point Mutation (R165C)","authors":"Rosa María García Tercero, J. G. Heras, Catalina Diaz Urrea, P. Benitez, Adolfo Heras Pérez, Fátima López González, Blanca serrano Serrano, Elena Elvira Soler, Carmina Díaz Marín","doi":"10.4172/2329-6895.1000376","DOIUrl":"https://doi.org/10.4172/2329-6895.1000376","url":null,"abstract":"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.","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":"6 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2018-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2329-6895.1000376","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42363405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Etiologies of Non-Genetic Epilepsies of Adults Newly Diagnostic in Ouagadougou in Burkina Faso","authors":"Lompo Djingri Labodi, Ouro Sia Aida, Dao Ben Aziz, Diallo Ousséini, C. Kadri, Millogo Athanase","doi":"10.4172/2329-6895.1000375","DOIUrl":"https://doi.org/10.4172/2329-6895.1000375","url":null,"abstract":"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.","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":"6 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2018-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2329-6895.1000375","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47864651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Morphometric and Microstructural Alterations Differ with Age of Onset in Patients with Essential Tremor","authors":"Pınar Demirayak, Merve Sen, Seher Ustun, Mesut Gungor, H. Topaloğlu, N. D. Çelik, M. Akbostancı, T. Ozcelik, A. Tekinay, K. Oguz","doi":"10.4172/2329-6895.1000373","DOIUrl":"https://doi.org/10.4172/2329-6895.1000373","url":null,"abstract":"Essential tremor (ET) is typically characterized with postural and kinetic tremor generally in upper distal limbs and head. Due to the heterogeneity of the disease, possibly different set of risk factors, pathophysiological mechanisms and clinical course affect structural architecture based on the onset of the disease. In this sense, we restricted genetic effect by recruiting early- and late-onset ET patients who were homozygous and heterozygous for the HTRA2 p.G399S gene mutation, respectively. A detailed analysis of how ET onset could affect the structural brain architecture is lacking in the literature. In this sense, brain morphometry and white matter microstructural integrity were assessed to investigate the effect of the onset of the disease on brain architecture in early- and late-onset ET patients using magnetic resonance imaging. Our results showed disruptions in late-onset ET was closely specific to motor areas including both cortical and subcortical structures, whereas affected areas in early-onset ET were more extensive in frontal, parietal and occipital areas. Results of our study indicate different brain structures and possibly different functions could be affected based on the onset of ET. Our findings highlight the potential role of age onset on structural cortical and subcortical architecture.","PeriodicalId":89983,"journal":{"name":"Journal of neurological disorders","volume":"36 2","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2018-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41246607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}