13th World Conference on Neurology and Neuromuscular Disorders October 01-02, 2018 Frankfurt, Germany

Biography:

Sankar Bandyopadhyay is an Associate Professor of Neurology in College of Medicine, Penn State University. He practices at Penn State Neuroscience Institute. He got his M.B.B.S degree from Calcutta National Medical College. He got a fellowship in Clinical Neurophysiology from Medical College of Georgia in 2001. His are of researches are bone health in neuromuscular diseases, vitamin-D deficiency, clinical neuromuscular disorders and others.

Abstract:

Introduction

Phenotype-based disease-classification and fixed histology, are not infallible.

Objective

Appreciation of novel phenotypes and histological findings.

Methods

Case studies. Histology.

Results

Case 1: 45 year-old woman with 10 year of proximal lower extremity, 2 year of bilateral finger flexion weakness with supportive objective evidence. CK 734. EMG and muscle biopsies: myopathic.

Presumptive Diagnosis: Early onset Inclusion Body Myositis.

Final diagnosis: Acid maltase deficiency (Adult onset Pompe disease), after Dried blood test and GAA sequencing, with novel IBM phenotype (MUSCLE & NERVE by same author)

Case 2: 53 year man with 2 years of progressive bilateral arms, forearms and thigh weakness. Objective weakness was corresponding. Prominent contractures of bilateral hamstrings and biceps. EMG and muscle biopsy: myopathic. Ck 162.

Phenotypic diagnosis: atypical late onset Emery-Dreifuss or Bethlem Muscular dystrophy.

Final diagnosis: 2B LGMD or Miyoshi myopathy.

Novel features: contractures, normal CK, hamstring type).

Case 3: 78 year man with 18 months of proximal lower extremity and distal upper extremity weakness. CK 379. EMG myopathic. Muscle biopsy: myopathic, rimmed vacuoles PLUS C5b-9 (seen in membrane attack complex disease e.g. dermatomyositis).

Final diagnosis: Sporadic IBM with Dermatomyositis histology profile.

Novel feature: C5b-9 positive staining in IBM (MUSCLE & NERVE by author).  No response to immunosuppressives.

Case 4: 77 year old with 2 years of proximal LE and Grip weakness. CK 415. EMG and muscle biopsy: myopathic with rimmed vacuoles. TDP-43 positive (Sporadic IBM). Strongly positive C5b-9.

Final diagnosis: Sporadic IBM with Dermatomyositis histology profile.

Novel features: C5b-9 in IBM. TDP43 and C5b-9 co-existence.

Conclusion

Phenotype and histology based evidences are proving inadequate in neuromuscular diagnosis with growing evidences. Genotype is still a developing concept with caveats of unknown significance of variants.

Biography:

Anita Gopesh has 35 years of experience in research and teaching at a prestigious University of Allahabad, India. She has expertise in Neuroendocrine System and Noval Paraneuronal Cells in fish. She has the distinction of introducing the third and peripheral NE cell system of fish. She is the Head of Department of Zoology, University of Allahabad.The finding of ps neurosecretory system associated with carotid labyrinth in fishes is significant as it can be paralleled with the glomus cells and carotid body of mammals, including man.

Abstract:

Various kinds of paraneuronal cells have been identified in vertebrate body, outside central nervous system which is known to control various essential functions of the body through neurotransmitters produced by these cells. It is now well established that these cell systems act in an autocrine and/or paracrine mode of action and belong to the diffuse neuroendocrine cell systems as defined by Toni. Pseudobranchial neuro-secretory system in one such system which is very similar to the NECS reported on the gill filaments of certain fishes. The association of pseudobranchial neurosecretory system with the carotid labyrinth-a chemosensory structure derived from pseudobranch, reflects towards a chemosensory role of the systems in the biology of these fishes. Immunohistochemical investigations on carotid labyrinth and pseudobranchial neurosecretory cells have revealed the presence of several bioactive substances (NPY, TH, VIP, NO, Serotonin etc.) in these cells, suggesting multiple functional roles of these cells. The gills of the fish are known to be multi-functional.            This novel gill NE system is described in detail and the cells belonging to this system are compared with the NECs observed in the gill filament of fish and glomus cells found in the carotid body of mammals. The functional significance of pseudobranchial neurosecretory cells in the vertebrate phylogeny of oxygen chemosensory complex is also discussed.

Biography:

Jo Ferrie is a Sociologist based at the University of Glasgow. She has worked in the Disability Studies field for 15 years, examining the socially constructed barriers that turn impairment into disability, with the aim of removing these barriers. In 2013, she has published the largest global qualitative study of the experience of living with motor neuron disease with Philly Robertson-Reick and Nick Watson. She joined the Euan MacDonald Centre as a PI in 2012 and worked on a number of projects with them, MND Scotland and the Anne Rowling Clinic to further understand the impact of neurological conditions on people and their families. She is also the Director of Glasgow Q-Step (a £3 million centre to create a step change in how social science graduates use and understand quantitative data) and is seconded to the University of Edinburgh as Deputy Director–Training of the Scottish Graduate School of Social Sciences.

Abstract:

Statement of the Problem: Adults diagnosed with motor neuron disease (MND) and similar neurological conditions face a time-limited future with few treatment options and no cure. Their experience of receiving a diagnosis is distressing, even when given well. Distress is exacerbated by waiting times, notions of illegitimacy, progressive and frightening symptoms.

Method: This paper draws on a number of studies, using phenomenological qualitative interviews of over 50 families (around 10% of families who live with MND in Scotland) since 2011. The research draws on the social model of disability, to determine barriers to being and doing are constructed for participants and what can be done to remove them. It will reflect particularly on experiences of diagnosis and use Bury’s notion of biographical disruption to examine the impact of this on identity. Further this paper will draw on a recent evaluation of the Speak Unique project (voice-banking and restoration to produce personalized voices) and the value of participating in medical research.

Findings: The families who participated unanimously reported difficult experiences of diagnosis. Many struggled to have symptoms taken seriously, to access neurological services, most waited over a year to be diagnosed, many felt consultants avoided a diagnosis and some felt abandoned following diagnosis. In contrast, participants who were taken seriously, with a shorter wait to diagnosis (<6 months) and met with a neurological nurse around the time of diagnosis, were less disrupted. Being aware of and involved in research opportunities gave participants a sense of doing that enabled a recovery of identity.

Conclusion & Significance: Professionals working with and for, adults with neurological conditions, particularly MND, are fully aware of the brutality of these conditions. This paper contributes to wider understandings of how families cope outside of medicalized spaces and what support they need, above what is currently available.

Biography:

K P Singh is a Professor in the Department of Zoology, University of Allahabad, India. He started his research on “Developmental neurotoxicity of CNS acting drugs on different aspects of teratology in general and neuroteratology in particular like neuroanatomy, pharmacology, neurochemistry and neurobehavior in rodent (Rat/Mice) model”. At present, his laboratory is involved to investigate the effect of novel psychotropic (antiepileptic, antipsychotic, antidepressant) drug exposure during pregnancy and lactation on fetal/neonatal birth defects, neuropathological alterations in different regions of fetal brain viz, cerebral cortex, caudate putamen, hippocampus and cerebellum etc., neurodevelopmental delay in offspring as well as long-lasting impact on neurobehavioral impairment in young-adult offspring.

Abstract:

Clinical and non-clinical literature revealed that in utero exposure to classical psychotropic drugs may lead to abnormal brain development and related functional disorders in children, but reports on new generation psychotropic drugs are limited and inconclusive. Therefore, present study has been taken to reveal the impact of therapeutic psychotropic agents on fetal brain development and genesis of psychiatric disorders in young offspring. In this study, pregnant C-F rats were used and equivalent therapeutic doses of some atypical psychotropic drugs of different classes like antipsychotics (RIS, QUE, ARI and ASN), antiepileptics (PGB, ESL and GBP) and antidepressants (VEN) were administered during sensitive phase of fetal brain development. At GD 21, about half of the dams of drugs exposed and non-exposed dams were sacrificed and their fetal brains were assessed for architectural pattern of neurocortical layers, neuronal migrations and neuronal apoptosis (Bax, Bcl-2, Annexin-5 kit assay, EM & RT-PCR), and their lasting impact on neurodevelopment and genesis of psychiatric disorders in young offspring. This laboratory revealed that therapeutically relevant doses of atypical psychotropic drugs may induce default neural migration, altered neuroarchitectural pattern; enhanced apoptotic neurodegeneration in different neuronal layers of neocortex and hippocampus of fetal brain and overt expression of anxiety, depression and cognition (learning and memory) like psychiatric disorders in young offspring. The neurobiology and genesis of these psychiatric disorders is associated with confounding factors (intrinsic and extrinsic). This study concludes that prenatal exposure to atypical psychotropic agents may induce abnormal fetal brain development and neurobehavioral sequelae in young offspring, therefore precautions should be taken by the health care providers before prescribing these agents to pregnant population.

Biography:

Mervat Nasry Wahba is a Neurologist in Memphis, Tennessee and is affiliated with multiple hospitals in the area, including Baptist Memorial Hospital-Memphis and Methodist Hospitals of Memphis. She has completed her Medical degree at Cairo University School of Medicine and has been in practice for more than 20 years. She is one of the 62 doctors at Baptist Memorial Hospital-Memphis and one of 52 doctors at Methodist Hospitals of Memphis who specialize in Neurology.

Abstract:

Anomalous anastomoses between the Median (MN) and Ulnar (UN) nerves in the upper extremity are well documented. The commonest anomalous innervation is Martin Gruber Anastomosis (MGA), described as the connection from MN to UN in the forearm. Another anomalous connection is from the UN to the MN in the hand and is known as the Riche-Cannieu anastomosis (RCA). This anomaly was described in 1897 by Riche and Cannieu with the findings of a cross over in the palm, between the deep branch of the UN and the recurrent branch of the MN. The RCA is described in cadaveric dissections with a frequency that ranges from 3.12 to 77%. In RCA, three patterns may be observed which include both sensory and all intrinsic hand muscles innervated exclusively by the ulnar nerve (referred to as the all ulnar hand) or only complete hand motor innervation by the UN or lastly, some median innervated muscles supplied by the UN. We present an interesting case of carpal tunnel syndrome in which there was delay in the median sensory latencies bilaterally on recording from digit II, delayed mixed nerve action potentials bilaterally. On testing the median motor nerves, the left median compound motor action potential (CMAP) was non-recordable on stimulating the left median nerve despite preserved left thenar strength and muscle bulk. On recording from the left abductor pollicis brevis (APB) while stimulating the left ulnar nerve, the CMAP was normal. Carpal tunnel syndrome was present bilaterally. The recognition of concomitant anomalies as Riche-Cannieu anastomosis affords a better characterization of the degree of carpal tunnel syndrome and avoids confusing electrophysiological interpretations.

Biography:

Lionel O Mavoungou is a First Assistant in Prof Nicolas Mermod’s laboratory at the University of Lausanne. After completing his PhD at the University of Montreal, he specialized in Stem Cell Biology and their interactions with their environment via signaling pathways. He joined Nicolas Mermod’s laboratory in order to work on a gene therapy model focused on Duchenne muscular dystrophy. This project integrates gene therapy aspects with stem cell engineering as well as metabolomic and genomic approaches, aiming to enhance stem cells capacity to restore diseased muscle function.

Abstract:

Duchenne muscular dystrophy (DMD) is a lethal monogenic pathology characterized by progressive muscle degeneration. We designed a potential autologous gene therapy protocol based on the intra-muscular transplantation of dystrophic mdx mesoangioblasts (MABs) transfected with full length dystrophin using the piggyBac transposon system into mdx SCID mice. This approach allowed us to detect transplanted MAB-derived dystrophin expression in myofibers and a functional amelioration of the muscle function. Transplanted muscle analysis revealed different fates for MABs. Some fused with myofibers, while the fate of other cells remained unclear. In order to characterize these cell populations, a mass cytometry analysis was performed before and after MABs transplant. This revealed that a subpopulation deriving from the MABs, that we named MAB-SAT, express satellite cell markers. A transcriptome analysis of this MAB-SAT subpopulation revealed an identity intermediate to MABs and endogenous satellite cells. The characterization of other MAB fates revealed a diverse spectrum of differentiation paths after transplant which allows quantifying the proportion of MABs for each particular differentiation lineage. In parallel, we screened signaling pathways affecting satellite cell markers expression in MABs, allowing the identification of several signaling pathways that favor the expression of satellite cell markers in MABs before transplant, in attempts to enhance the MABs potential to engraft and differentiate into myogenic lineage when used in autologous cell therapy.

Biography:

Abou Dao is a Radiotherapist Doctor. He is Doctor in the Faculty of Medicine at the University of Ouagadougou in Burkina Faso in 2005. He practiced in the western region of Burkina till 2010. He was trained in Radiotherapy in Casablanca in Morocco for 4 years and completed his Specialist Diploma in 2014. Currently, he is in a university hospital and interested in the management of neurological tumors, particularly brain metastases. As cysticercosis is present in Burkina Faso, he seeks to see if there is a link between brain metastases and the presence of cysticercus in the brain.

Abstract:

Background: Neurocysticercosis is anthropozoonosis of the central nervous system. We report a case of an asynchronous single brain metastasis of breast adenocarcinoma.

Clinical Observation: In 2011, we received Mrs M P L, 37 years old, who had a left breast adenocarcinoma, classified as T4bN1M0, positive for hormonal receptors and HER2+++ for whom she received neoadjuvant chemotherapy and then a patey. Histopathology concluded a residual adenocarcinoma classified TBNA of Sataloff. 50Gy radiotherapy was administered on the wall followed by tamoxifen prescribed for 5 years. The patient, considered in complete remission, was followed. Twenty months after chemotherapy, she was admitted to rebel headaches and vertigo. The examination found a patient with 80% Karnofsky index, apyretic with a separation of the levitation polygon. Cerebral MRI revealed a single 32x30 mm left temporo-occipital lesion with peri-lesional infiltration. CA15.3 was high at 159.8 IU/ml. No other metastasis has been revealed. A stereotaxic biopsy was performed and histopathology concluded a breast adenocarcinoma, CK7 positive, Her2 negative, hormonal receptors positive and discovery of a live cysticercus larva. Management consisted of corticosteroid therapy, albendazole and brain radiotherapy in toto, followed by boosting the lesion. The evolution was marked a clear clinical and radiological improvement. CA15.3 control was normal. Unfortunately, patients die one year after the brain radiotherapy.

Conclusion: The association of a neurocysticercosis with an adenocarcinoma is possible especially in tropical zone patients. Concurrent management could improve local control but survival remains short.

Biography:

David Boyer Ramsden (Honorary Professor), S-L Ho (Professor of Neurology) and PW-L Ho (Assistant Professor) have collaborated for twenty years on the causes, effects and treatment of Parkinson’s disease. He got his Ph.D degree in Biochemistry from Bradford University. Currently, he is an Honorary Professor at The Medical School, University of Birmingham. His current researches are based on endocrine disruptors, evolution N-methyltransferases in primates, Parkinsons disease and other. He had 190 publications on a range of topics and 21 chapters in various books.

Abstract:

Statement of the Problem: Mutations in leucine-rich repeat kinase 2 (LRRK2) are associated with familial and sporadic PD. How LRRK2 interacts with synaptic proteins, and its role in dopamine (DA) homeostasis, synaptic vesicle recycling and α-synuclein catabolism are unclear.

Methods: To explore the pathogenic effects of LRRK2 mutation, we generated C57BL/6N mice with homozygous LRRK2R1441G knock in (KI).

Findings: Although no abnormal phenotype was observed in mutant LRRK2R1441G mice, the KI mutation increased vulnerability to reserpine-induced striatal DA depletion and perturbed DA homeostasis resulting in presynaptic dysfunction and locomotor deficits. Subsequently, we found that mutant primary cortical and mesencephalic dopaminergic neurons were more susceptible to rotenone-induced ATP deficiency. Compared with wild-type controls, striatal synaptosomes isolated from young mutant mice exhibited significantly lower dopamine uptake after rotenone toxicity, due to reduced striatal synaptosomal mitochondria and synaptic vesicular proton pump protein (V-ATPase H) levels. Mutant mice developed greater locomotor deficits in open-field tests than wild-type mice following low oral rotenone doses given twice weekly over 50 weeks (half their lifespan). The increased locomotor deficit was associated with specific reduction in striatal mitochondrial complex-I (NDUFS4) in rotenone-treated mutant mice. Finally, we showed greater age-dependent increases of striatal oligomeric α-synuclein (toxic species) in KI mice compared to wild-type (WT). Given that a significant proportion of cellular α-synuclein is metabolized via lysosomal degradation, such accumulation of its oligomers may be a result of an age-dependent decrease in chaperone-mediated autophagy (CMA) activity associated with impaired assembly/disassembly of multimeric lamp2a translocation complexes.

Conclusion: Enhancement of CMA represents a potential treatment for PD.

Biography:

Husham Bayazed has completed his PhD at University of Mosul, College of Medicine. He is now a Consultant at the Scientific Research Center, University of Zakho/Kurdistan Region, Iraq. He is a Specialist and Consultant in Microbiology and Immunology and has published more than 25 papers in reputed journals and has been serving as a Scientific Reviewer for many local and international medical journals. In addition, he has a Fellowship of ISC, Infection, Cancer, Immunology Advisory Board Member (EUROMDnet) Belgium, Membership of World Stroke Organization, Membership of Metabolomics, USA, and Membership of American Association of Science & Technology with more than 20 participations in international scientific meetings all over the world.

Abstract:

Anti-phospholipid syndrome (APS) is an autoimmune disease. Cerebral ischemia associated with APS occurs at a younger age than typical atherothrombotic cerebrovascular disease, is often recurrent and is associated with high positive IgG anti-phospholipid (GPL) unit levels. This study sought to determine the frequency rates of anti-cardiolipin (aCL) dependent on the presence of β2-GPI, anti-β2-glycoprotein I (aβ2-GPI) and anti-phosphatidyl serine (aPS) IgG autoantibodies among stroke patients and thus demonstrate the importance of testing for aβ2-GPI autoantibodies. Stroke patients and control subjects recruited from Mosul, Erbil and Dohuk provinces in Northern Iraq were evaluated. All cases were under 50 years-of-age and had no recognizable risk factors. ELISA was used to evaluate the presence of IgG isotype of aCL, aβ2-GPI, and aPS autoantibodies in their blood, the results indicated that the frequency of aβ2-GPI was 14/50 (28%), aCL was 11/50 (22%) and aPS was 9/50 (18%) among stroke patients. In contrast, aCL was detected in 2/30 (6.7%) of control subjects; each of the other anti-phospholipid antibodies (APLA) was never observed. Of all the aβ2-GPI+ cases, the incidence of stroke patients having the combined profile of aβ2-GPI+aCL was 11/14 (78.6%) and of aβ2-GPI+aPS was 9/14 (64.3%) only 2/14 (14.3%) of these aβ2-GPI+ patients expressed aCL in the absence of aPS. The frequency of patients expressing all three markers was only 9/14 (64.3 %). In none of the APS/stroke patients were aCL or aPS expressed in the absence of the aβ2-GPI. Conversely, IgG aβ2-GPI as a sole marker was seen in 3/14 (21.4%) of these patients (i.e. in absence of either other marker). It can be concluded from these studies that among the three major forms of APLA examined, the presence of IgG aβ2-GPI autoantibodies appeared to correlate best with stroke in patients who were concurrently suffering from APS.