Search results for: dystonia parkinsonism

Authors: Ana Katrina C. Longos, Jarungchai Anton S. Vatanagul

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Objectives: To present a case of two Filipino male siblings initially seen with parkinsonism and eventually with dystonia and to present botulinum A toxin as part of the treatment for X-linked dystonia parkinsonism in Cebu City. Discussion: A 54 year old man presented initially with parkinsonian symptoms and later developed oromandibular and truncal dystonia. Further history revealed that he had an older brother who also presented with the same symptoms. Neuroimaging done on both patients revealed CVD infarcts in the pons and corona radiata respectively which where were not compatible with their symptoms. Family history revealed that their mother was originally from Panay and a diagnosis of X-linked dystonia parkinsonism (XDP) was made. Both patients were able to receive botulinum A toxin injections which provided temporary relief of symptoms. Conclusion: XDP was considered in 2 Filipino male siblings who presented with oromandibular dystonia, truncal dystonia, shuffling gait, resting tremors with ancestry from Panay on the maternal side. There is no cure for XDP, only symptomatic treatment. Until recently, only oral chemotherapy was available in Cebu. Botulinum A toxin injection done in both patients afforded temporary resolution of symptoms.

Keywords: XDP, dystonia of Panay, lubag, dystonia parkinsonism, botulinum a toxin

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Authors: Douglas Shabe

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The world of the performing musician is one of high pressure that comes from the expected high standards they have to live up to and that they expect from themselves. The pressure that musicians put themselves under can manifest itself in physical problems such as focal dystonia. Knowledge of the contributing factors and potential rehabilitation strategies cannot only give players hope for recovery but also the information to prevent it from happening in the first place. This dissertation presents a multiple case study of two performing brass musicians who developed focal dystonia of the embouchure, also known as embouchure dystonia, combined with an autoethnography of the author’s experience of battling embouchure dystonia and our attempts at recovery. Extensive research into the current state of focal dystonia research was done to establish a base of knowledge. That knowledge was used to develop interview questions for the two participants and interpret the findings of the qualitative data collected. The research knowledge, as well as the qualitative data from the case studies, was also used to interpret the author’s experience. The author determined that behavioral, environmental, and psychological factors were of prime importance in the subjects’ development of focal dystonia and that modifications of those factors are essential for the best chance at recovery.

Keywords: focal dystonia, embouchure dystonia, music teaching and learning, music education

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Authors: Yesim Sucullu Karadag, Pinar Kurt, Sule Bilen, Nese Subutay Oztekin, Fikri Ak

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Background: Primary cervical dystonia is thought to be a purely motor disorder. But recent studies revealed that patients with dystonia had additional non-motor features. Sensory and psychiatric disturbances could be included into the non-motor spectrum of dystonia. The Basal Ganglia receive inputs from all cortical areas and throughout the thalamus project to several cortical areas, thus participating to circuits that have been linked to motor as well as sensory, emotional and cognitive functions. However, there are limited studies indicating cognitive impairment in patients with cervical dystonia. More evidence is required regarding neurocognitive functioning in these patients. Objective: This study is aimed to investigate neurocognitive profile of cervical dystonia patients in comparison to healthy controls (HC) by employing a detailed set of neuropsychological tests in addition to self-reported instruments. Methods: Totally 29 (M/F: 7/22) cervical dystonia patients and 30 HC (M/F: 10/20) were included into the study. Exclusion criteria were depression and not given informed consent. Standard demographic, educational data and clinical reports (disease duration, disability index) were recorded for all patients. After a careful neurological evaluation, all subjects were given a comprehensive battery of neuropsychological tests: Self report of neuropsychological condition (by visual analogue scale-VAS, 0-100), RAVLT, STROOP, PASAT, TMT, SDMT, JLOT, DST, COWAT, ACTT, and FST. Patients and HC were compared regarding demographic, clinical features and neurocognitive tests. Also correlation between disease duration, disability index and self report -VAS were assessed. Results: There was no difference between patients and HCs regarding socio-demographic variables such as age, gender and years of education (p levels were 0.36, 0.436, 0.869; respectively). All of the patients were assessed at the peak of botulinum toxine effect and they were not taking an anticholinergic agent or benzodiazepine. Dystonia patients had significantly impaired verbal learning and memory (RAVLT, p<0.001), divided attention and working memory (ACTT, p<0.001), attention speed (TMT-A and B, p=0.008, 0.050), executive functions (PASAT, p<0.001; SDMT, p= 0.001; FST, p<0.001), verbal attention (DST, p=0.001), verbal fluency (COWAT, p<0.001), visio-spatial processing (JLOT, p<0.001) in comparison to healthy controls. But focused attention (STROOP-spontaneous correction) was not different between two groups (p>0.05). No relationship was found regarding disease duration and disability index with any neurocognitive tests. Conclusions: Our study showed that neurocognitive functions of dystonia patients were worse than control group with the similar age, sex, and education independently clinical expression like disease duration and disability index. This situation may be the result of possible cortical and subcortical changes in dystonia patients. Advanced neuroimaging techniques might be helpful to explain these changes in cervical dystonia patients.

Keywords: cervical dystonia, neurocognitive impairment, neuropsychological test, dystonia disability index

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Authors: Murat Emre, Zeynep Tufekcioglu

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Objective: We describe a patient with late onset phenylketonuria which presented with rapidly progressive dementia and parkinsonism that were reversible after management. Background: Phenylketonuria is an autosomal recessive disorder due to mutations in the phenylalanine hydroxlase gene. It normally presents in childhood, in rare cases, however, it may have its onset in adulthood and may mimic other neurological disorders. Case description: A previously normal functioning, 59 year old man was admitted for blurred vision, cognitive impairment and gait difficulty which emerged over the past eight months. In neurological examination he had brisk reflexes, slow gait and left-dominant parkinsonism. Mini-mental state examination score was 25/30, neuropsychological testing revealed a dysexecutive syndrome with constructional apraxia and simultanagnosia. In cranial MRI there were bilateral diffuse hyper-intense lesions in parietal and occipital white matter with no significant atrophy. Electroencephalography showed diffuse slowing with predominance of teta waves. In cerebrospinal fluid examination protein level was slightly elevated (61mg/dL), oligoclonal bands were negative. Electromyography was normal. Routine laboratory examinations for rapidly progressive dementia and parkinsonism were also normal. Serum amino acid levels were determined to explore metabolic leukodystrophies and phenylalanine level was found to be highly elevated (1075 µmol/L) with normal tyrosine (61,20 µmol/L). His cognitive impairment and parkinsonian symptoms improved following three months of phenylalanine restricted diet. Conclusions: Late onset phenylketonuria is a rare, potentially reversible cause of rapidly progressive parkinsonism with dementia. It should be considered in the differential diagnosis of patients with suspicious features.

Keywords: dementia, neurology, Phenylketonuria, rapidly progressive parkinsonism

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Authors: Shraddha Gopal, Jayam Lazarus

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Aims: To study the referral practice and impact of DAT-scan in the diagnosis or exclusion of Parkinson’s disease. Settings and Designs: A retrospective study Materials and methods: A retrospective study of the results of 60 patients who were referred for a DAT scan over a period of 2 years from the Department of Neurology at Northern Lincolnshire and Goole NHS trust. The reason for DAT scan referral was noted under 5 categories against Parkinson’s disease; drug-induced Parkinson’s, essential tremors, diagnostic dilemma, not responding to Parkinson’s treatment, and others. We assessed the number of patients who were diagnosed with Parkinson’s disease against the number of patients in whom Parkinson’s disease was excluded or an alternative diagnosis was made. Statistical methods: Microsoft Excel was used for data collection and statistical analysis, Results: 30 of the 60 scans were performed to confirm the diagnosis of early Parkinson’s disease, 13 were done to differentiate essential tremors from Parkinsonism, 6 were performed to exclude drug-induced Parkinsonism, 5 were done to look for alternative diagnosis as the patients were not responding to anti-Parkinson medication and 6 indications were outside the recommended guidelines. 55% of cases were confirmed with a diagnosis of Parkinson’s disease. 43.33% had Parkinson’s disease excluded. 33 of the 60 scans showed bilateral abnormalities and confirmed the clinical diagnosis of Parkinson’s disease. Conclusion: DAT scan provides valuable information in confirming Parkinson’s disease in 55% of patients along with excluding the diagnosis in 43.33% of patients aiding an alternative diagnosis.

Keywords: DATSCAN, Parkinson's disease, diagnosis, essential tremors

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Authors: Noura Shehab-Eldeen, Mohamed Elsherbeeny, Hossam Elmetwally, Mohamed Salama, Ahmed Lotfy, Mohamed Elgamal, Hussein Sheashaa, Mohamed Sobh

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Mitochondrial toxins including papaverine may be implicated in the etiology and pathogenesis of Parkinson's disease. The aim was to detect the effect of papaverine on the proliferation and viability of neural stem cells. Rat neural progenitor cells were isolated from embryos (E14) brains. The dispersed tissues were allowed to settle, then, The supernatant was centrifuged at 1,000 g for 5 min. The pellet was placed in Hank’s solution cultured as free-floating neurospheres Dulbecco’s modified Eagle medium (DMEM) and Hams F12 (3:1) supplemented with B27 (Invitrogen GmBH, Karlsruhe, Germany), 20 ng/mL epidermal growth factor (EGF; Biosource, Karlsruhe, Germany), 20 ng/mL recombinant human fibroblast growth factor (rhFGF; R&D Systems, Wiesbaden-Nordenstadt, Germany), and penicillin and streptomycin (1:100; Invitrogen) at 37°C with 7.5% CO2 . Differentiation was initiated by growth factor withdrawal and plating onto a poly-d-lysine/ laminin matrix. The neurospheres were fed every 2-3 days by replacing 50% of the culture media with fresh media. The culture suspension was transferred to a dish containing 16 wells. The wells were divided as follows: 4 wells received no papaverine (control), 4 wells 1 u, 4 wells 5 u and 4 wells 10 u of papaverine solution. In the next 2 weeks, photography (0,4,5,11days) and viability test were done. The photographs were analysed. Results : papaverine didn't affect proliferation of neurospheres, while it affected viability compared to control , this was dose related. Conclusion: This indicates the harmful effect of papaverine suggesting it to be a candidate neurotoxin causing Parkinsonism.

Keywords: neurospheres, neural stem cells, papaverine, Parkinsonism

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Authors: Tatjana Pekmezovic, Milica Jecmenica-Lukic, Igor Petrovic, Vladimir Kostic

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Background: A group of atypical parkinsonian syndromes (APS) includes a variety of rare neurodegenerative disorders characterized by reduced life expectancy, increasing disability, and considerable impact on health-related quality of life (HRQoL). Aim: In this study we wanted to answer two questions: a) which demographic and clinical factors are main contributors of HRQoL in our cohort of patients with APS, and b) how does quality of life of these patients change over 1-year follow-up period. Patients and Methods: We conducted a prospective cohort study in hospital settings. The initial study comprised all consecutive patients who were referred to the Department of Movement Disorders, Clinic of Neurology, Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade (Serbia), from January 31, 2000 to July 31, 2013, with the initial diagnoses of ‘Parkinson’s disease’, ‘parkinsonism’, ‘atypical parkinsonism’ and ‘parkinsonism plus’ during the first 8 months from the appearance of first symptom(s). The patients were afterwards regularly followed in 4-6 month intervals and eventually the diagnoses were established for 46 patients fulfilling the criteria for clinically probable progressive supranuclear palsy (PSP) and 36 patients for probable multiple system atrophy (MSA). The health-related quality of life was assessed by using the SF-36 questionnaire (Serbian translation). Hierarchical multiple regression analysis was conducted to identify predictors of composite scores of SF-36. The importance of changes in quality of life scores of patients with APS between baseline and follow-up time-point were quantified using Wilcoxon Signed Ranks Test. The magnitude of any differences for the quality of life changes was calculated as an effect size (ES). Results: The final models of hierarchical regression analysis showed that apathy measured by the Apathy evaluation scale (AES) score accounted for 59% of the variance in the Physical Health Composite Score of SF-36 and 14% of the variance in the Mental Health Composite Score of SF-36 (p<0.01). The changes in HRQoL were assessed in 52 patients with APS who completed 1-year follow-up period. The analysis of magnitude for changes in HRQoL during one-year follow-up period have shown sustained medium ES (0.50-0.79) for both Physical and Mental health composite scores, total quality of life as well as for the Physical Health, Vitality, Role Emotional and Social Functioning. Conclusion: This study provides insight into new potential predictors of HRQoL and its changes over time in patients with APS. Additionally, identification of both prognostic markers of a poor HRQoL and magnitude of its changes should be considered when developing comprehensive treatment-related strategies and health care programs aimed at improving HRQoL and well-being in patients with APS.

Keywords: atypical parkinsonian syndromes, follow-up study, quality of life, APS

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Authors: Mohammad Ehsani, Elham Karimi, Hashem Koozechian

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Aim: The purpose of current semi-experimental study was a survey on effect of 16 week walking on psychosocial function related quality of life among 60 to 75 years old men. Methodology: For this reason, short from of health – related quality of life questionnaire (SF – 36) and Geriatric Depression Scale (GDS) had been distributed to the subjects at 2 times of pre – test and posttest. Statistical sample of current study was 60 to 75 years old men who placed at Kahrizak house and assessed by considering physically and medical background. Also factors of entrance to the intervention like age range, have satisfaction and have intent to participating in walking program, lack of having diabetic, cardiovascular, Parkinsonism diseases and postural, neurological, musculoskeletal disorders, lack of having clinical background like visual disorders or disordering on equilibrium system, lack of motor limitation, foot print disorders, having surgery and mental health had been determined and assessed. Finally after primary studies, 80 persons selected and categorized accidentally to the 3 experimental group (1, 2, 3 sessions per week, 30 min walking with moderate intension at every sessions) and one control group (without physical activity in period of 16 weeks). Data analysed by employing ANOVA, Pearson coefficient and Scheffe Post – Hoc tests at the significance level of p < 0.05. Results: Results showed that psychosocial function of men with 60 to 75 years old increase by influence of 16 week walking and increase of exercise sessions lead to more effectiveness of walking. Also there was no significant difference between psychosocial function of subjects within 1 session and 3 sessions experimental groups (p > 0.05). Conclusion: On the basis of results, we can say that doing regular walking with efficient and standard dosage for elderly people, can increase their quality of life. Furthermore, designing and action operation regular walking program for elderly men on the basis of special, logical and systematic pattern under the supervision of aware coaches have been recommended on the basis of results.

Keywords: walking, quality of life, psychosocial function, elders

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Authors: Sultan Çağırıcı, Arsida Bajrami, Beyza Aslan, Hacı Ali Erdoğan, Nejla Sözer Topçular, Dilek Bozkurt, Vildan Yayla

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Objective: Corticobasal syndrome (CBS) is phenotypically characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, dystonia and myoclonus. The underlying pathologies consists of corticobasal degeneration (CBD), progressive supra nuclear palsy, Alzheimer's, Creutzfeldt-Jakob and frontotemporal degeneration. CBD is a degenerative disease with clinical symptoms related to the prominent involvement of cerebral cortex and basal ganglia. CBD is a pathological diagnosis and antemortem clinical diagnosis may change many times. In this paper, we described the clinical features and discussed a cases diagnosed with symmetric CBS because of its rarity. Case: Seventy-five-year-old woman presented with a three years history of difficulty in speaking and reading. Involuntary hand jerks and slowness of movement also had began in the last six months. In the neurological examination the patient was alert but not fully oriented. The speech was non-fluent, word finding difficulties were present. Bilateral limited upgaze, bradimimia, bilateral positive cogwheel' rigidity but prominent in the right side, postural tremor and negative myoclonus during action on the left side were detected. Receptive language was normal but expressive language and repetition were impaired. Acalculia, alexia, agraphia and apraxia were also present. CSF findings were unremarkable except for elevated protein level (75 mg/dL). MRI revealed bilateral symmetric cortical atrophy prominent in the frontoparietal region. PET showed hypometabolism in the left caudate nucleus. Conclusion: The increase of data related to neurodegenerative disorders associated with dementia, movement disorders and other findings results in an expanded range of diagnosis and transitions between clinical diagnosis. When considered the age of onset, clinical symptoms, imaging findings and prognosis of this patient, clinical diagnosis was CBS and pathologic diagnosis as probable CBD. Imaging of CBD usually consist of typical asymmetry between hemispheres. Still few cases with clinical appearance of CBD may show symmetrical cortical cerebral atrophy. It is presented this case who was diagnosed with CBD although we found symmetrical cortical cerebral atrophy in MRI.

Keywords: symmetric cortical atrophy, corticobasal degeneration, corticobasal syndrome

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Authors: Ardiansyah I. Ryan, Ashsholih K. R., Fathurrohman G. R., Kurniadi M. R., Huda P. A

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The burden of brain-related disease is very high. There are a lot of brain-related diseases with limited treatment result and thus raise the burden more. The Parkinson Disease (PD), Mental Health Problem, or Paralysis of extremities treatments had risen concern, as the patients for those diseases usually had a low quality of life and low chance to recover fully. There are also many other brain or related neural diseases with the similar condition, mainly the treatments for those conditions are still limited as our understanding of the brain function is insufficient. Brain Implant Technology had given hope to help in treating this condition. In this paper, we examine the current update of the brain implant technology. Neurotechnology is growing very rapidly worldwide. The United States Food and Drug Administration (FDA) has approved the use of Deep Brain Stimulation (DBS) as a brain implant in humans. As for neural implant both the cochlear implant and retinal implant are approved by FDA too. All of them had shown a promising result. DBS worked by stimulating a specific region in the brain with electricity. This device is planted surgically into a very specific region of the brain. This device consists of 3 main parts: Lead (thin wire inserted into the brain), neurostimulator (pacemaker-like device, planted surgically in the chest) and an external controller (to turn on/off the device by patient/programmer). FDA had approved DBS for the treatment of PD, Pain Management, Epilepsy and Obsessive Compulsive Disorder (OCD). The target treatment of DBS in PD is to reduce the tremor and dystonia symptoms. DBS has been showing the promising result in animal and limited human trial for other conditions such as Alzheimer, Mental Health Problem (Major Depression, Tourette Syndrome), etc. Every surgery has risks of complications, although in DBS the chance is very low. DBS itself had a very satisfying result as long as the subject criteria to be implanted this device based on indication and strictly selection. Other than DBS, there are several brain implant devices that still under development. It was included (not limited to) implant to treat paralysis (In Spinal Cord Injury/Amyotrophic Lateral Sclerosis), enhance brain memory, reduce obesity, treat mental health problem and treat epilepsy. The potential of neurotechnology is unlimited. When brain function and brain implant were fully developed, it may be one of the major breakthroughs in human history like when human find ‘fire’ for the first time. Support from every sector for further research is very needed to develop and unveil the true potential of this technology.

Keywords: brain implant, deep brain stimulation (DBS), deep brain stimulation, Parkinson

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Authors: Stephanie Zuba-Bates

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Purpose: This qualitative research study explored the lived experience of people with functional movement disorder (FMD) including how it impacts their quality of life and participation in life activities. It aims to educate health care professionals about FMD from the perspective of those living with the disorder. Background: Functional movement disorder is characterized by abnormal motor movements including tremors, abnormal gait, paresis, and dystonia with no known underlying pathophysiological cause. Current research estimates that FMD may account for 2-20% of clients seen by neurologists. Getting a diagnosis of FMD is typically long and difficult. In addition, many healthcare professionals are unfamiliar with the disorder which may delay treatment. People living with FMD face great disruption in major areas of life including activities of daily living (ADLs), work, leisure, and community participation. OT practitioners have expertise in working with people with both physical disabilities as well as mental illness and this expertise has the potential to guide treatment and become part of the standard of care. In order for occupational therapists to provide these services, they must be aware of the disorder and must advocate for clients to be referred to OT services. In addition, referring physicians and other health professionals need to understand how having FMD impacts the daily functioning of people living with the disorder and how OT services can intervene to improve their quality of life. This study aimed to answer the following research questions: 1) What is the lived experience of individuals with FMD?; 2) How has FMD impacted their participation in major areas of life?; and, 3) What treatment have they found to be effective in improving their quality of life? Method: A naturalistic approach was used to collect qualitative data through semi-structured telephone interviews of five individuals living with FMD. Subjects were recruited from social media websites and resources for people with FMD. Data was analyzed for common themes among participants. Results: Common themes including the variability of symptoms of the disorder; challenges to receiving a diagnosis; frustrations with and distrust of health care professionals; the impact of FMD on the participant’s ability to perform daily activities; and, strategies for living with the symptoms of FMD. Conclusion: All of the participants in the study had to modify their daily activities, roles and routines as a result of the disorder. This is an area where occupational therapists may intervene to improve the quality of life of these individuals. Additionally, participants reported frustration with the medical community regarding the awareness of the disorder and how they were treated by medical professionals. Much more research and awareness of the disorder is in order.

Keywords: functional movement disorder, occupational therapy, participation, quality of life

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Authors: Azza A. Ali, Asmaa Abdelaty, Mona G. Khalil, Mona M. Kamal, Karema Abu-Elfotuh

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Background: Aluminium (Al) is known as a neurotoxin environmental pollutant that can cause certain diseases as Dementia, Alzheimer's disease, and Parkinsonism. It is widely used in antacid drugs as well as in food additives and toothpaste. Stresses have been linked to cognitive impairment; Social isolation (SI) may exacerbate memory deficits while protein malnutrition (PM) increases oxidative damage in cortex, hippocampus and cerebellum. The risk of cognitive decline may be lower by maintaining social connections. Epigallocatechin-3-gallate (EGCG) is the most abundant catechin in green tea and has antioxidant, anti-inflammatory and anti-atherogenic effects as well as health-promoting effects in CNS. Objective: To study the influence of different stressful conditions as social isolation, electric shock (EC) and inadequate Nutritional condition as PM on neurotoxicity induced by Al in rats as well as to investigate the possible protective effect of EGCG in these stressful and PM conditions. Methods: Rats were divided into two major groups; protected group which was daily treated during three weeks of the experiment by EGCG (10 mg/kg, IP) or non-treated. Protected and non-protected groups included five subgroups as following: One normal control received saline and four Al toxicity groups injected daily for three weeks by ALCl3 (70 mg/kg, IP). One of them served as Al toxicity model, two groups subjected to different stresses either by isolation as mild stressful condition (SI-associated Al toxicity model) or by electric shock as high stressful condition (EC- associated Al toxicity model). The last was maintained on 10% casein diet (PM -associated Al toxicity model). Isolated rats were housed individually in cages covered with black plastic. Biochemical changes in the brain as acetyl cholinesterase (ACHE), Aβ, brain derived neurotrophic factor (BDNF), inflammatory mediators (TNF-α, IL-1β), oxidative parameters (MDA, SOD, TAC) were estimated for all groups. Histopathological changes in different brain regions were also evaluated. Results: Rats exposed to Al for three weeks showed brain neurotoxicity and neuronal degenerations. Both mild (SI) and high (EC) stressful conditions as well as inadequate nutrition (PM) enhanced Al-induced neurotoxicity and brain neuronal degenerations; the enhancement induced by stresses especially in its higher conditions (ES) was more pronounced than that of inadequate nutritional conditions (PM) as indicated by the significant increase in Aβ, ACHE, MDA, TNF-α, IL-1β together with the significant decrease in SOD, TAC, BDNF. On the other hand, EGCG showed more pronounced protection against hazards of Al in both stressful conditions (SI and EC) rather than in PM .The protective effects of EGCG were indicated by the significant decrease in Aβ, ACHE, MDA, TNF-α, IL-1β together with the increase in SOD, TAC, BDNF and confirmed by brain histopathological examinations. Conclusion: Neurotoxicity and brain neuronal degenerations induced by Al were more severe with stresses than with PM. EGCG can protect against Al-induced brain neuronal degenerations in all conditions. Consequently, administration of EGCG together with socialization as well as adequate protein nutrition is advised especially on excessive Al-exposure to avoid the severity of its neuronal toxicity.

Keywords: environmental pollution, aluminum, social isolation, protein malnutrition, neuronal degeneration, epigallocatechin-3-gallate, rats

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