4^th International conference & Exhibition on Neurology and Therapeutics July 27-29, 2015 Rome, Italy

Biography:

Dr. DeFeo is noted as one of the leading experts of the DSM-5 in the State of California. She has conducted over 50 state, national, and international trainings on the topic. Dr. DeFeo was the highlighted presenter at the 18th Annual Inter-national Violence, Abuse, and Trauma Conference (IVAT) in San Diego in September, 2013, the 18th Annual IVAT Conference in Honolulu, Hawaii in March, 2014, and the Illinois American Association for Marriage and Family Therapy Annual Conference in Naperville, Illinois to conduct a full 7 hour workshop to educate Clinical Psychologists, Social Workers, Marriage and Family Therapists, Psychiatrists, and Medical Doctors/Professionals on the DSM-5 and ICD-10 diagnostic systems. Dr. DeFeo’s DSM-5 and ICD-10 training is also an approved accredited workshop with the Association for Advanced Training in the Behavioral Sciences (AATBS) to train social workers, psychologists, psychiatrists, medical physicians, and marriage and family therapists in the United States. Additionally, Dr. DeFeo is working with the Mexican Board of Professionals to institute the DSM-5 into the Mexican Higher Education Institutions, and has presented this topic at the First Annual Psychological Society Conference in Buenos Aires, Argentina in October, 2014 and various locations in Mexico (Tijuana, Ensenada, and Mexicali). Dr. DeFeo presently is a California licensed psychologist, distinguished professor of psychology, and Interim Associate Chair for the Department of Marriage and Family Therapy at the Chicago School of Professional Psychology in Irvine, California where she has been working since 2010. Dr. DeFeo also is a senior reviewer and editor for the Journal of Psychiatry, OMICS, and the Journal of Hispanic Higher Education.

Abstract:

The unfortunate reality exists that there is a significant barrier between neuroscience and psychology. There are over 600 neurological conditions that are recognized and treated in the field of medicine, such as Muscular Dystrophy, Huntington’s Disease, Rett’s Syndrome, Bell’s Palsy, and Locked-In Syndrome to name a few; however, the psychological manifestations and treatments are most often ignored. It is imperative that the field of medicine addresses the reciprocity between neurological conditions andpsychosocial functioning. The goal of this keynote is to educate the audience on how to recognize, address, and provide appropriate therapeutic interventions, both medically and psychologically.

Biography:

Dr. Pant received his M.A. and Ph.D. degrees in Physics from Agra University, Agra, India. His postdoctoral studies were conducted on the mechanisms of electron and ion transport in model membrane systems at the Department of Biophysics at Michigan State University. He joined the Laboratory of Neurobiology in the NIMH as a senior staff fellow in 1974 with Dr. Ichiji Tasaki where he studied the function of the axonal cytoskeleton in the squid giant axon. In 1979 he moved to the NIAAA extending his studies on the neuronal cytoskeleton and the effects of alcohol on its regulation. Dr. Pant moved to the NINDS, Laboratory of Neurochemistry in 1987 where he is presently chief of the section on Cytoskeleton Regulation. His laboratory is studying the mechanisms of topographic regulation of neuronal cytoskeleton proteins by post-translational modification, including the role of kinase cascades in normal brain and during neurodegeneration.

Abstract:

Biological processes are tightly regulated under physiological conditions. Neurobiology occurs upon deregulation of these tightly regulated processes. The Biology of neurodegeneration program evolved in our laboratory studying the basic biology of neuronal cytoskeletal protein phosphorylation regulation during development and normal function in the adult. To understand the molecular basis of neurodegeneration our major focus has been to study the regulation of compartment-specific patterns of cytoskeletal protein phosphorylation in neuronal perikarya (neuronal cell body), axons and dendritic processes. During our studies on the compartment specific phosphorylation of cytoskeletal proteins in the neurons, we discovered a novel kinase, Cdk5, a Cell Cycle dependent like kinase in the brain. Though it binds with cyclins, however, its activity is primarily restricted to neurons due to its binding and regulation by neuron specific proteins p35kDa and p39kDa. Cdk5. By virtue of its tight regulation, multifunctional role in neuronal development, migration, synaptogenesis and survival Cdk5 targets a large number of different types of neuronal processes and has emerged as a major player in nervous system function in health and disease. We have demonstrated that phosphorylation of the numerous acceptor sites on neuronal intermediate filament proteins (NIFPs) as neurofilaments (NFs) and Tau is tightly regulated topographically and generally confined to the axonal compartment. It was recognized that in neurodegenerative disorders such as Alzheimer’s disease (AD) and Amyotrophic lateral sclerosis (ALS), the pathology was characterized by an accumulation of aberrantly and hyper- phosphorylated cytoskeletal proteins in cell bodies, suggesting that topographic regulation had been compromised. Our studies of neurodegeneration in cell culture and model mice with emphasis on a specific neuronal protein kinases, (Cdk5), that targets numerous neuronal proteins including cytoskeletal proteins, which when deregulated, may be responsible for the pathology seen in neurodegeneration. In cell systems, neuronal stress leads to deregulation of Cdk5, accompanied by abnormal cytoskeletal protein phosphorylation and cell death characteristic of neurodegeneration. Recently we have developed peptides derived from, p35, a neuron specific activator of Cdk5, for deregulated Cdk5 activity which rescue cells in vitro from this stress induced pathology and in vivo, in AD, ALS and PD model mice. We have investigated (1) how cytoskeletal protein phosphorylation is topographically and tightly deregulated in neurons? (2) What factors are responsible for this deregulation? (3) And treated mouse models of AD, ALS and PD therapeutically with a small peptide, p5, (24 amino acid) derived from Cdk5 activator protein, p35, that specifically inhibit deregulated Cdk5 (Cdk5/p25) but not the physiological Cdk5 (Cdk5/p35) required for nervous system function. Currently, most therapeutic approaches targeting the deregulated Cdk5 and other kinases in neurodegenerative disorders have focused primarily on drugs like roscovitine that inhibit Cdk5 activity by interfering with the ATP binding domain of the kinases. These drugs, however, lack sufficient specificity, since all the kinases including cell cycle Cdks, are vulnerable at the ATP binding site targeted by these drug molecules. P5 is non-toxic, thus is most suitable therapeutic reagent for AD and other neurodegenerative diseases.

Biography:

Dr. Michael Seibenheneris a research Scientist with a strong background in hypothesis development, experimental design and planning. Over 20 years, he have experience in supervision and training of project personnel and extensive bench top research experience in cell and molecular biology. He looking to use knowledge gained over my years of peer reviewed research to further my research career as well as pass on the knowledge He have learned to another generation of scientists. He did his PhD from Auburn University.

Abstract:

Affective spectrum and anxiety disorders have come to be recognized as the most prevalently diagnosed psychiatric disorders, as well as, being intimately associated with neurodegenerative disease. Among a suite of potential causes, changes in mitochondrial energy metabolism and function have been associated with such disorders. Thus, finding proteins that specifically alter mitochondrial functionality is important to identify molecular targets for drug discovery. The scaffolding and mitophagy related protein Sequestosome1 (SQSTM1/p62) is a component of all known aggresomes associated with multiple neurodegenerative diseases. It has also been recognized as playing a role in both basal mitochondrial activity as well as, degradation of defective mitochondria by mitophagy. We have generated a transgenic mouse overexpressing SQSTM1/p62 specifically in the hippocampal region of the brain and have shown increased mitochondrial energy output and improvement in transcription factor import into the mitochondrial matrix. These elevated levels of mitochondrial functionality correlate directly with discernible improvements in mouse behavior patterns related to affective spectrum and anxiety disorders, as well as, improvements in cognition, spatial learning and long term memory formation. With measurable improvements in biochemical function and behavioral patterns, SQSTM1/p62 appears to be a prime candidate as a protein that improves mitochondrial functionality while also improving behaviors related to anxiety and affective spectrum disorders making it a potential biomarker for mitochondrial related neurodegenerative diseases.

Biography:

Dr. Wang is Director of Neuroapoptosis Drug Discovery Laboratory, Department of Neurosurgery, Brigham and Women’s Hospital/Harvard Medical School. Dr. Wang received her PhD from Hebrew University of Jerusalem. She did her postdoctoral training at University of Michigan and Harvard Medical School. Dr. Wang has published about 70 peer-reviewed articles and has served as the Guest Editor, Handling Editor, and Editorial Board Member for a number of peer-reviewed journals, as well as the scientist reviewer for institutes or foundations including NIH, DOD, BSF, and others, and invited reviewer for 34 peer-reviewed journals.

Abstract:

Amyotrophic Lateral Sclerosis (ALS) is a fatal and rare chronic neurodegenerative disease. Multiple mechanisms proposed as responsible for ALS pathogenesis include mitochondrial dysfunction, apoptosis, oxidative stress, inflammation, glutamate excitotoxicity, and protein degradation. Because riluzole, the only Food and Drug Administration (FDA)-approved treatment, prolongs the ALS patient’s life by only 3 months, new therapeutic treatments that may delay disease onset, slow progression, prolong survival, and ultimately reduce the burden of disease are urgently needed. The impact of various small pharmacological compounds targeting the proposed pathogenic mechanisms of ALS will be summarized. Furthermore, melatonin, an agonist of melatonin receptors, delays disease onset, extends lifespan, and slows progression of mSOD1G93A ALS transgenic mice will be discussed.

Biography:

Dr. Anantha Ramanathan is a Vascular and Endovascular Surgeon at the Central Coast of New South Wales Australia. His niche areas are endovascular surgery, dialysis access and carotid endarterectomy. He special interests are amputation prevention, stroke prevention and creation and maintenance of dialysis access fistulas. He is a fanatic in his belief in limb preservation, preservation of AV fistulas and rapid access carotid endarterectomy. Nowadays it is feasible to treat most critically ischaemic limbs by endovascular techniques. He do not give up until he have exhausted all possibilities of treatment. Hence he believe his amputation rates are low. Similarly he do not abandon failed or failing AV fistulas without trying hard to rescue them. He absolutely committed to his patients. His patients love him. Many patients have commented that "he care." And he smile a lot. Almost every patient who leaves his room leaves with a smile. Vascular ultrasound forms an integral part of his work. He also a conjoint Senior Lecturer at University of Newcastle. He is also an author. He have published an anthology of 80 poems and two novels in Tamil. The English translations of the novels will be published soon. He have won prizes for essay and poetry in English and Tamil. He have published articles, poems and stories in several magazines. He also have many unpublished poems. He will embark on writing my next novel soon.

Abstract:

History: A fit 20 year old male personal trainer presented with a history of hearing a continuous buzzing noise in his left ear for about a month. The noise was present at all times and interfered with his daily activity and sleep. He was otherwise healthy. He could not remember how it started but on being questioned about trauma he volunteered that he was involved in an altercation about a month before, and was punched in the left side of the neck. Though he did not lose consciousness, he had a stiff neck from the next morning for a few days. There was no hearing impairment. Examination: Physical examination revealed that the main abnormality was a palpable thrill and an audible continuous bruit at the apex of the left posterior triangle of the neck, radiating towards the left ear. A diagnosis of AV fistula was made. Investigation: The initial duplex scan and MRI could not demonstrate the AV fistula but a second duplex scan demonstrated high velocity flow in the internal jugular vein (PSV 423cm/sec). The V3 segment of the vertebral artery showed high flow low resistance pattern (PSV 395cm/sec; EDV 175 cm/sec) with a lot of turbulence. A diagnosis of vertebrojugular AV fistula due to blunt trauma was made. The right vertebral artery was normal. Treatment: The condition was treated successfully by endovascular placement of detachable coils proximal and distal to the lesion in the left vertebral artery, with Onyx (TM) injection of the fistula itself. The vertebral artery was sacrificed without any clinical consequences. Discussion: Vertebral artery AV fistulae are rare and usually occur after trauma. The V3 segment of the artery is most at risk as the artery leaves the protective environment of the vertebral foramina to enter the foramen magnum. The artery is relatively superficial in this situation and can be injured. Blunt trauma of the area is the commonest cause. This patient was relatively lucky. In Australia we had a recent high profile sporting tragedy where a young cricketer died after being struck in this region by a cricket ball. In that case the vertebral artery bled inside the cranium, causing rapid decompensation.

Biography:

Dr. Robert D. Dimaio graduated from the Philadelphia College of Osteopathic Medicine in 1985. He works in Pennsauken, NJ and specializes in Family Medicine and Osteopathic Manipulative Medicine. Dr. Dimaio is affiliated with Kennedy Health System Cherry Hill and Our Lady Of Lourdes Medical Center.

Abstract:

Repeated seizures are often associated with development of refractory chronic epilepsy, the most common formof which is temporal lobe epilepsy. G-protein-coupled cannabinoid receptors (CB1 and CB2 receptors) regulateneuronal excitability and have been shown to mediate acute anticonvulsant effects of cannabinoids in animalmodels. However, the potential of cannabinoids to prevent chronic neuronal damage and development ofepilepsy remains unexplored. We hypothesized that treatment with a CB receptor agonist after an episode ofstatus epilepticus – but before development of spontaneous recurrent seizures – might prevent the developmentof functional changes that lead to chronic epilepsy. Using the rat pilocarpinemodel, a therapeutic approach wassimulated by administering the CB agonist,WIN55,212-2 after an episode of status epilepticus. Epileptic behaviorwas monitored during development of spontaneous recurrent seizures for up to 6 months. Histology,neurochemistry, redox status and NMDA receptor subunit expression were assessed at 6 months afterpilocarpine-induced seizures. Sub-acute treatment with WIN 55,212-2 (for 15 days starting 24 h after PILOinjection) dramatically attenuated the severity, duration and frequency of spontaneous recurrent seizures. Further, in contrast to vehicle-treated animals, hippocampi fromWIN 55,212-2-treated animals showed: normalthiol redox state, normal NR2A and NR2B subunit expression, preservation of GABAergic neurons and preventionof abnormal proliferation of GABAergic progenitors. This study shows for the first time that, after a knowninciting event, treatmentwith a compound targeting CB receptors has the potential to prevent the epileptogenicevents that result in chronic epileptic damage.

Biography:

Nathali Kaushansky, PhD, is a staff scientist in the Neurobiology Department at the Weizmann institute of Science. Dr. Kaushansky received her BSc in Chemistry and MSc in Biomedical Engineering from the Technion – Israel Institute of Technology, Haifa, Israel. She completed her PhD studies and post-doctoral training in the Immunology Department in The Weizmann Institute of Science. In the last 10 years Dr. Kaushansky’s work has focused on characterization of autoimmune T- and B-cells against myelin and neuronal target antigens in Multiple Sclerosis (MS). Her study aims to establish a highly specific “multi – targeting” immunomodulatory approach via co-antagonizing of most known and potentially pathogenic T-cell autoreactivities in MS. The primary goals of her recent research were 1: studying mechanisms underlying immunomodulation by this multi epitope targeting agent (specifically designed artificial multi-epitope protein (Y-MSPc)-recently published) and 2: studying immunogenetics of susceptibility to MS, mainly at defining HLA-DR2-related epitopes of the different most important myelin target antigens in MS.

Abstract:

It is now widely accepted that the pathogenic autoimmunity inMS, as well as in other organ-specific autoimmune diseases, can bedirected against several target antigens. We recently showed that a concomitant ‘‘multi-epitope-targeting’’ approach,using a specifically designed artificial multi-epitope protein (Y-MSPc) is required foreffective antigen-based immune-specific therapy of organ-specificautoimmune diseases associated with complex and dynamicpathogenic autoimmunity, such as MS.Y-MSPcwas superior to peptide(s) in concomitantly downregulating pathogenic T-cellsreactivity against multiple myelin antigens/epitopes, via the induction of effective and longer lasting peripheral regulatorymechanisms (cytokine shift, anergy, and Foxp3+ CTLA4+ regulatory T-cells . Moreover, we identified a tolerogenic myeloid DC subset in theCNS and spleen of EAE mice playing an important role in immunoregulation process in EAE, following Y-MSPc treatment . Our results demonstrate that immune tolerance induced by Y-MSPc is associated by increase of CD11c+CD11b+Gr1 myeloid derived dendritic cells in the CNS and spleen. These myeloid DCs exhibited immunoregulatory characteristics, including increased production of IL-4, IL-10 and TGF-b but reduced IL-12. Furthermore, CD11c+CD11b+Gr1 DCs were also capable of inhibiting the proliferation of PLP139-151-specific T cells in vitro and significantly suppressed ongoing EAE upon adaptive transfer. In addition, adaptive transfer of CD11c+CD11b+Gr1 DCs derived from YMSPc treated mice to EAE induced mice resulted in remarkably upregulation of CD4FOXP3 regulatory cells. Taken together, these findings suggestthat i.v.administration of the multi epitope protein (Y-MSPc) results in maintaining peripheral tolerance and reduce EAE incidence by an increase in tolerogenic CD11c+CD11b+Gr1 .

Biography:

Dr. Tamiz is a Program Director at the National Institute of Neurological Disorders and Stroke (NINDS), Office of Translational Research (OTR) who oversees NIH Blueprint Neurotherapeutics network (BPN) and Innovation Grants to Nurture Initial Translational Efforts (IGNITE). Prior to joining NIH in 2012, Dr. Tamiz had held scientific and management positions in research and development of therapeutic programs at Corvas International (acquired by Dendreon), CovX (now part of Pfizer), and Alba Therapeutics. Dr. Tamiz received his Ph.D. at University of Oregon and conducted postdoctoral research at the Department of Neuroscience at Georgetown University Medical Center.

Abstract:

The mission of the Office of Translational Research (OTR) within the National Institute of Neurological Disorders and Stroke (NINDS) is to accelerate the preclinical discovery and development of new therapeutic interventions for neurological disorders. The NINDS is part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. The OTR provides funding (approximately $100 million annually) and resources through grants, cooperative agreements, and contracts to industry and university researchers to advance early-stage neurological technologies, devices, and therapeutic programs to industry adoption (i.e., investor funding and corporate partnerships). The OTR comprises five programs that support the design, implementation, and management of research activities to critical translational challenges in neurology.

Biography:

Kaja is an experienced neurobiologist with a long-standing research track record in academia and the biotech and pharmaceutical industry. Kaja currently serves as Associate Director of Preclinical Research at the Vision Research Center at the University of Missouri - Kansas City, School of Medicine. He is the Director of Microscopy of the imaging core facility at the Vision Research Center and also holds an appointment to Assistant Professor of Ophthalmology. His NIH-funded research program focuses on human neurological and neurodegenerative diseases, visual disorders and inflammation. Kaja obtained his B.Sc. (Hons.) degree in Molecular Biology and Biochemistry from Durham University, UK and holds a Ph.D. degree in Medicine/Neuroscience from Leiden University, The Netherlands. Prior to joining the faculty at the University of Missouri - Kansas City, he has performed postdoctoral work at The University of British Columbia (Vancouver, B.C., Canada) and the University of North Texas Health Science Center (Fort Worth, TX). In addition to his academic work, Dr. Kaja has worked and consulted for a number of pharmaceutical companies, incl. Novo Nordisk A/S, Bayer AG, Neuromed Pharmaceuticals Inc., and NeuroSearch A/S. He is CEO and co-founder of K&P Scientific LLC, a scientific consulting company headquartered in Kansas City, MO.

Abstract:

Alzheimer’s disease (AD) is the most common form of dementia, affecting more than 5 mi Americans. As such, AD poses a significant burden on the affected individual, caregivers and society. Most cases of AD are attributed to the sporadic form, which is believed to be of multifactorial origin.However, several genetic loci etiological for the rare familial form of the disease have been identified. One of the loci is the group of presenilin proteins, which form the enzymatic core of the γ-secretase complex. Most of the almost 200 identified familial AD mutations in presenilins are located in the gene encoding presenilin-1, while presenilin-2 mutations typically cause later onset familial AD. Recent evidence identified the group of presenilinproteins as potent modulators of intracellular calcium signaling, through potentiation of the intracellular ryanodine receptor, which likely underlies this phenomenon. This potentiation occurs via the highly evolutionarily conserved N-terminal region of presenilin, resulting in differential modulation of the ryanodine receptor by presenilin-1 and presenilin-2. The proposed mechanism is in accordance with previous studies identifying elevated Ca2+ concentrations in the endoplasmic reticulum during AD, and the critical role of ryanodine receptors in regulating calcium via calcium-induced calcium release. Furthermore, ryanodine receptors contribute to the pathologic, elevated intracellular Ca2+ concentrations observed in AD. Intriguingly, similar Ca2+dyshomeostasis occurs during healthy aging, in the absence of known mutations. Utilizing preclinical models for healthy aging, we have implicated presenilin proteins in the etiology of age-related changes in synaptic signaling and, ultimately, age-related deficits in memory and motor coordination. In this keynote talk I will summarize the evidence for the group of presenilin proteins as a novel class of calcium modulators, and discuss the opportunities for targeting presenilin proteins as novel drug targets for age-related and neurodegenerative diseases, incl. AD. Biography Kaja is an experienced neurobiologist with a long-standing research track record in academia and the biotech and pharmaceutical industry. Dr. Kaja currently serves as Associate Director of Preclinical Research at the Vision Research Center at the University of Missouri - Kansas City, School of Medicine. He is the Director of Microscopy of the imaging core facility at the Vision Research Center and also holds an appointment to Assistant Professor of Ophthalmology. His NIH-funded research program focuses on human neurological and neurodegenerative diseases, visual disorders and inflammation. Dr. Kaja obtained his B.Sc. (Hons.) degree in Molecular Biology and Biochemistry from Durham University, UK and holds a Ph.D. degree in Medicine/Neuroscience from Leiden University, The Netherlands. Prior to joining the faculty at the University of Missouri - Kansas City, he has performed postdoctoral work at The University of British Columbia (Vancouver, B.C., Canada) and the University of North Texas Health Science Center (Fort Worth, TX). In addition to his academic work, Dr. Kaja has worked and consulted for a number of pharmaceutical companies, incl. Novo Nordisk A/S, Bayer AG, Neuromed Pharmaceuticals Inc., and NeuroSearch A/S. He is CEO and co-founder of K&P Scientific LLC, a scientific consulting company headquartered in Kansas City, MO

Biography:

Dr. is a 4th Grade Hebrew/Religious School Teacher in Emanuel Congregation from September 2011 – Present (4 years 4 months)Chicago, IL (Illinois). She teach Hebrew (2nd year) using Mitkadem and CHAI Curriculum and Life Cycle for the 4th Grade! She was an interim Facilities Manager in Emanuel Congregation from March 2013 – February 2014 (1 year)Chicago, IL (Illinois). She maintained the Emanuel Calendar that determines who is where at any given minute in the Emanuel Facility. She also scheduled security on a monthly basis. She was Executive Director in Decalogue Society of Lawyers from March 2006 – November 2008 (2 years 9 months)Chicago, IL. She was an Assistant Property Manager in Wesley Realty Group form 2001 – 2004 (3 years)Evanston, IL. She was Senior Business Consultant in Kraft Foods Group from 1998 – 2000 (2 years)Glenview, IL. She was a PROJECT LEADER/SENIOR ANALYST in CCH Incorporated from 1993 – 1998 (5 years)Chicago, IL

Abstract:

Background: Mild-moderate alcohol intake is widely considered to be associated with decreased risk of developing Alzheimer disease (AD), while heavy drinking increases the risk. There is little information about how alcohol affects the cognitive profile among those already diagnosed with AD. Objective: To examine the relationship between alcohol, both the amount and type, and cognitive decline in a cohort of AD patients. Methods: A cohort of 360 patients with early AD in New York, Boston, Baltimore and Paris were followed-up biannually for up to 19.28 years. At each visit, the cognitive profile of the patients was assessed using the modified Mini-Mental State Examination (mMMSE), and patients’ alcohol intake, including beverage type, was reported by patients’ primary caregivers. General estimating equation analysis was used to determine whether baseline alcohol use was associated with the rate of cognitive decline. Findings: Heavy drinkers (8 or more alcoholic drinks/week) had a faster cognitive decline, deteriorating 2.625 more points on their mMMSE score annually compared to abstainers (P≤0.0001), or 3.429 more points compared to mild-moderate drinkers (1-7 alcoholic drinks/week) (P=0.006). There was no significant difference when comparing mild-moderate drinkers to abstainers. Increasing standard drinks of hard liquor, but not beer or wine, was also associated with a faster rate of cognitive decline (β=-0.165 P=≤0.0001). Conclusions: Heavy alcohol consumption and more hard liquor are associated with a faster rate of cognitive decline in AD patients, suggesting that they may hasten progression of AD. Our results suggest that alcohol drinking habits might alter the course of AD.

Biography:

Abstract:

Purpose Progressive myoclonic epilepsy type one, is a neurodegenerative disorder characterized by action and stimulus sensitive myoclonus, tonic clonic seizures, progressive cerebellar ataxia, preserved cognition and poor outcome. The authors report clinical, neurophysiological, radiological and genetic findings of anEmirati family with five affected siblings and review literature. Methods All data concerning familial and clinical history, neurologic examination, laboratory tests, electroencephalogram, brain imaging, and DNA analysis were examined. Results Genetic testing confirmed the diagnosis of autosomal recessive progressive myoclonic epilepsy type 1 (EPM1) in two males and three females. Median age of onset was three years. Action or stimulus sensitive myoclonus and generalized seizures were recorded in 100%, at median age of onset of 3 and 4 years respectively. Multi segmental myoclonus and generalized status myoclonicusobserved in 80%. Dysarthria and ataxia developed in 100%. Vitamin D deficiency and recurrent viral infections noticed in100%. Cognitive, learning and motor dysfunctions involved100%. Sphincters were affected in 60%. Abnormal EEG recorded in 100%. Generalized brain atrophy accumulated in 60%. Phenytoin and carbamazepine used in 60% with worsening effect. Valproate and leviteracetam used in 100% with improving effect. Conclusions This is the first reported family of EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus,and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier in onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.

Biography:

Abstract:

Purpose Progressive myoclonic epilepsy type one, is a neurodegenerative disorder characterized by action and stimulus sensitive myoclonus, tonic clonic seizures, progressive cerebellar ataxia, preserved cognition and poor outcome. The authors report clinical, neurophysiological, radiological and genetic findings of anEmirati family with five affected siblings and review literature. Methods All data concerning familial and clinical history, neurologic examination, laboratory tests, electroencephalogram, brain imaging, and DNA analysis were examined. Results Genetic testing confirmed the diagnosis of autosomal recessive progressive myoclonic epilepsy type 1 (EPM1) in two males and three females. Median age of onset was three years. Action or stimulus sensitive myoclonus and generalized seizures were recorded in 100%, at median age of onset of 3 and 4 years respectively. Multi segmental myoclonus and generalized status myoclonicusobserved in 80%. Dysarthria and ataxia developed in 100%. Vitamin D deficiency and recurrent viral infections noticed in100%. Cognitive, learning and motor dysfunctions involved100%. Sphincters were affected in 60%. Abnormal EEG recorded in 100%. Generalized brain atrophy accumulated in 60%. Phenytoin and carbamazepine used in 60% with worsening effect. Valproate and leviteracetam used in 100% with improving effect. Conclusions This is the first reported family of EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus,and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier in onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.