{"title":"Towards a Biological Definition of Alzheimer Disease","authors":"A JellingerKurt","doi":"10.23937/2378-3001/1410095","DOIUrl":"https://doi.org/10.23937/2378-3001/1410095","url":null,"abstract":"Alzheimer disease (AD), the most common form of dementia, is a heterogenous syndrome with various pathobiologically defined subtypes. The clinical diagnosis of probable AD is enabled by the recent ATN biomarker system, but the definite diagnosis is only possible at post-mortem according to the updated NIA-AA criteria. The recent developments in the clinical and neuropathological diagnosis of AD including its specific subtypes improving the evaluation of AD and its impact on public health are briefly discussed.","PeriodicalId":14172,"journal":{"name":"International Journal of Neurology and Neurotherapy","volume":"113 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87937473","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}
Franzoi André Eduardo de Almeida, Monfredini Nayme Hechem, Pope Leonora Zozula Blind, Reis Felipe Ibiapina dos, Tironi Fabio Antonio
{"title":"Cerebral Histoplasmosis in Non-Immunosuppressed Patient - Case Report","authors":"Franzoi André Eduardo de Almeida, Monfredini Nayme Hechem, Pope Leonora Zozula Blind, Reis Felipe Ibiapina dos, Tironi Fabio Antonio","doi":"10.23937/2378-3001/1410077","DOIUrl":"https://doi.org/10.23937/2378-3001/1410077","url":null,"abstract":"Histoplasmosis is a disease caused by Histoplasma capsulatum var. capsulatum, which is endemic in Latin America. The manifestation of the disease in the central nervous system (CNS) is more frequent in immunosuppressed individuals with disseminated presentation. Pulmonary manifestations are usually the first symptoms. However, when neurological manifestations are the first clinical manifestations, the diagnosis becomes a challenge. The early diagnosis is fundamental in the final outcome of the patient. The objective is to report a case of difficult identification of cerebral histoplasmosis in a nonimmunosuppressed patient in Joinville, Brazil.","PeriodicalId":14172,"journal":{"name":"International Journal of Neurology and Neurotherapy","volume":"135 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91447383","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}
Franzoi Andre Eduardo Almeida, Patti Marcelo Manukian, Magro Debora Delwing Dal, Lima Daniela Delwing de
{"title":"The Main Neurological Dysfunctions in Hyperargininemia-Literature Review","authors":"Franzoi Andre Eduardo Almeida, Patti Marcelo Manukian, Magro Debora Delwing Dal, Lima Daniela Delwing de","doi":"10.23937/2378-3001/1410074","DOIUrl":"https://doi.org/10.23937/2378-3001/1410074","url":null,"abstract":"Objectives: To demonstrate what are the main neurological dysfunctions within the hyperargininemia and other aspects of the disease in order to provide knowledgement and an update on the issue. Methods: We conducted a literature search on reliable databases (PubMed/MEDLINE, Scielo/LILACS and UptoDate) from 1960 to 2018. The selection considered the most relevant articles, including 49 papers and 1 book for this narrative literature review. Results: Each of the selected materials was studied aiming to the formation of a cohesive and clear article. The main topics were sequenced in: clinical manifestations, diagnosis, genetics, and treatment. Conclusions: Hyperargininemia is a rare and underdiagnosed disease, but it is benign due to unusual severe hyperammonemia. The main clinical signs are neurological, such as spasticity, ataxia, hyperreflexia, incoordination, paresis, bilateral Babinski sign, tremor and seizures. The initial suspicion occurs with retraction of the Achilles tendon and spasticity. The therapy focus into reducing plasma levels of arginine and maintain a normal ammonia plasmatic concentration.","PeriodicalId":14172,"journal":{"name":"International Journal of Neurology and Neurotherapy","volume":"78 12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86185184","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":"Dementia with Lewy Bodies and Parkinson's Disease-Dementia: Current Perspectives","authors":"Jellinger Kurt A","doi":"10.23937/2378-3001/1410076","DOIUrl":"https://doi.org/10.23937/2378-3001/1410076","url":null,"abstract":"Dementia with Lewy bodies (DLB) and Parkinson’s disease-dementia (PDD) are two closely related major neurocognitive disorders with Lewy bodies of unknown etiology, showing notable overlap in their clinical presentation, pathological features, biochemistry, and genetic risk factors. According to international consensus, their diagnosis is based on an arbitrary distinction between the time of onset of motor and cognitive symptoms: dementia preceding parkinsonism in DLB, while it develops after onset of parkinsonism in PDD (the one-year rule). Clinically, both syndromes show cognitive impairment with severe deficits in executive function, visuo-spatial processing, fluctuating attention and parkinsonism, with higher prevalence of Alzheimer-type lesions in DLB that may account for earlier onset and severity of cognitive deficits. These are also associated with multiple neurotransmitter deficits indicating that cognitive impairment in Lewy body disesses is multifactorial. Recent intra vitam neuroimaging, clinico-pathological studies and animal models suggest that DLB and PDD represent closely related but different, heterogenic subtypes of an α-synuclein-associated disease spectrum (Lewy body diseases) or parts of a continuum with PDD at the mild end of the spectrum, DLB in the middle, and DLB+AD at the more severe end. In view of the controversies about the nosology of both disorders, continuous effort is necessary to differentiate them more clearly and to clarify the underlying pathogenic mechanisms in order to enable effective mechanistic-based treatment, while, currently, no disease-modifying therapies are available.","PeriodicalId":14172,"journal":{"name":"International Journal of Neurology and Neurotherapy","volume":"42 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73396240","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":"Cerebral Hemodynamics in Patients with Rheumatoid Arthritis","authors":"U. Uygar, Ögün Muhammed Nur","doi":"10.23937/2378-3001/1410078","DOIUrl":"https://doi.org/10.23937/2378-3001/1410078","url":null,"abstract":"Objectives: The aim of this study was to assess the cerebral blood flow velocity using transcranial Doppler (TCD) ultrasonography in patients with Rheumatoid Arthritis (RA). Materials and methods: A total of 22 patients aged 20 to 40-years-old with RA were enrolled in the RA group consecutively. Control group (non-RA group) consisted of 22 age and sex-matched, randomly selected patients without RA who had other diagnosis such as fibromyalgia and did not have risk factors for atherosclerosis (AS). Bilateral middle cerebral artery (MCA) peak-systolic, end-diastolic, and mean blood flow velocities, Pourcelot’s resistance index values and Gosling’s pulsatility index values were recorded with TCD by a neurosonologist blinded to RA and control groups. Results: There were 22 people in each group. There were 10 women and 12 men in RA group. Therefore, control group was selected similar. The mean age was 38.6 in the RA group and 37.8 in the control group. Cerebral blood flow velocities of bilateral MCA were significantly higher in RA group than the control group. Conclusions: Our study highlights the increased cerebral blood flow is indirectly associated with AS regarding persistent inflammation in patients with RA.","PeriodicalId":14172,"journal":{"name":"International Journal of Neurology and Neurotherapy","volume":"22 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87040711","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}
R. López, E. Sara, Rivas Elena Calzado, Mascarell Guillermo Navarro, Ruiz-Pena Juan Luis, I. Guillermo
{"title":"Susac Syndrome Successfully Treated with Mycophenolate Mofetile","authors":"R. López, E. Sara, Rivas Elena Calzado, Mascarell Guillermo Navarro, Ruiz-Pena Juan Luis, I. Guillermo","doi":"10.23937/2378-3001/1410071","DOIUrl":"https://doi.org/10.23937/2378-3001/1410071","url":null,"abstract":"Background: Susac Syndrome is an infrequent condition that is often misdiagnosed as Multiple Sclerosis. This syndrome is characterized by the clinical trial of encephalopathy, retinopathy with branch retinal artery occlusions and hearing loss. Methods: We describe a patient with Susac Syndrome that was initially diagnosed as having multiple sclerosis with clinical deterioration after starting treatment with interferon beta-1a. Results: Despite the classic triad of encephalopathy, branch retinal occlusions and hearing loss is pathognomonic of Susac Syndrome, it is present in only a small percentage of patients. In our case, at the onset of symptoms the triad was incomplete and thus the correct diagnosis and treatment were delayed. Although the clinical trial was incomplete, our patient had the classic magnetic resonance appearance with branch retinal artery occlusions and sensorineural hearing loss. The cerebrospinal fluid examination was normal with no oligoclonal bands and a no elevated IgG index. Our patient responded well to the correct immunosuppressive treatment, with clinical improvement. The lesions in the magnetic resonance also improved after the treatment. Conclusions: Susac syndrome must be considered in the differential diagnosis of MS, especially in cases with suggestive symptoms, lesions involving corpus callosum, no oligoclonal bands in LCR and in patients with progressive worsening despite a correct DMT. A prompt diagnosis is essential in order to prevent disability or irreversible sequelae related to the disease.","PeriodicalId":14172,"journal":{"name":"International Journal of Neurology and Neurotherapy","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78583437","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":"Rotigotine in Parkinson's Disease Patients: What is the Efficient and Tolerable Dose According with the Real Clinical Practice? An Open, Non-Controlled Multicenter Spanish-Study","authors":"G. Salazar, M. Fragoso, J. Codas","doi":"10.23937/2378-3001/1410073","DOIUrl":"https://doi.org/10.23937/2378-3001/1410073","url":null,"abstract":"Background: The efficacy and the tolerance of Rotigotine in PD patients has been shown in some studies published in the past. Nevertheless, there is few information in regards to the dose of Rotigotine used in the real clinical practice. Methods: We designed a multicenter, non-controlled, open follow up to study the efficient and tolerable doses of Roti-gotine used in the real clinical practice in mild impaired PD patients. Results: Patients included in this study showed a significant improvement in regards to the UPDRS motor scale, as well as in the PDQ-8 functional scale and the patient global impression scale at the end of the study. Whereas, the score in global clinical impression as well as in the NPI scale showed no significant statistical improvement at the end of the end of the study. Conclusions: PD patients of this study showed a motor and functional improvement after 3 months of Rotigotine transdermic patches therapy with a mean dose of 7.6 mg/daily and they experienced few and non-relevant adverse effects. the neuropsychiatric symptoms and impulse control disorders were rarely seen after Rotigotine therapy at 8 mgs/daily.","PeriodicalId":14172,"journal":{"name":"International Journal of Neurology and Neurotherapy","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81894584","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}
Hamurcu Mualla, Fırat Selma, Boynuegri Suleyman, Hamurcu Ufuk, SarCcaogu Murat Sinan, Acar Selcan Ekicier, Durmus B Seyma, CiftCi Bulent
{"title":"Evaluation of Retinal Nerve Fiber Layer and Optic Nerve Function in Patients with Obstructive Sleep Apnea Syndrome","authors":"Hamurcu Mualla, Fırat Selma, Boynuegri Suleyman, Hamurcu Ufuk, SarCcaogu Murat Sinan, Acar Selcan Ekicier, Durmus B Seyma, CiftCi Bulent","doi":"10.23937/2378-3001/1410072","DOIUrl":"https://doi.org/10.23937/2378-3001/1410072","url":null,"abstract":"Objective: To evaluate retinal nerve fiber layer thickness (RNLF) with optical coherence tomography (OCT) and optic nerve function with visual evoked potential (VEP) in patients with obstructive sleep apnea syndrome (OSAS). Methods: Fifty-one eyes of 30 newly diagnosed OSAS patients who received no treatment were included. The RNFL analysis with OCT and pattern VEP test (120’,30’,15’,7’ pattern size) was performed to all patients. Results: Of 30 patients, 20 were females and 10 were males. None of the patients were obese with a body mass index of (BMI) < 30 kg/m2. The mean Apnea Index of the patients was 42.5 ± 24.3. All patients had severe OSAS with an Apne Index of ≥ 30. Visual acuity was 20/20, intraocular pressure and optic disc were within natural limits in the all of the eyes included in the study. A statistically significant decrease (p < 0.05) was detected in the all parameters of p100 wave amplitude of VEP tests. Compared to the standard data of the healthy individuals at the same age, there was no significant difference in the p100 latency. Although there was thinning of the RNFL thickness, there was no statistically significant difference (p > 0.05). Conclusion: In patients with OSAS, ischemia during deep sleep causes optic nerve dysfunction which can be detected by electrophysiological test, even in asymptomatic patients. In this study, the importance of early diagnosis and treatment is emphasized, and particularly early treatment may halt the progression of the optic nerve dysfunction. For a better understanding of these diseases and ocular manifestations, further long-term studies are needed.","PeriodicalId":14172,"journal":{"name":"International Journal of Neurology and Neurotherapy","volume":"34 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81003124","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":"Nuclear Localization of Apolipoprotein E4: A New Trick for an Old Protein.","authors":"Troy T Rohn, Zachary D Moore","doi":"10.23937/2378-3001/1410067","DOIUrl":"10.23937/2378-3001/1410067","url":null,"abstract":"<p><p>One of the most important genetic risk factors for late-onset Alzheimer's Disease (AD) is harboring the <i>ApoE4</i> allele. Much is known regarding the functions of the ApoE4 protein including cholesterol transport in the CNS and a critical role in clearing beta-amyloid deposits in the AD brain. However, recent studies demonstrating the nuclear localization suggest a novel function beyond the classical known actions of ApoE4. The purpose of the current review is to examine how this secreted protein traffics to the nucleus and to discuss possible outcomes of nuclear localization in the CNS. It is suggested that proteolytic fragmentation of ApoE4 is a key step leading to nuclear localization and the outcome of this event is to initiate transcription of various genes involved in inflammation and cell death. Therefore, the nuclear localization and induction of gene expression may provide a link between harboring the <i>ApoE4</i> allele and enhanced dementia risk observed in AD.</p>","PeriodicalId":14172,"journal":{"name":"International Journal of Neurology and Neurotherapy","volume":"4 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35676671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}