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Poster Session I – Sunday, 23 June - 12.30-14.30

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Poster Session I – Sunday, 23 June - 12.30-14.30 Poster Session I – Sunday, 23 June - 12.30-14.30 1 Unravelling the Role of Niaspan in Peripheral Nerve Regeneration Stefano Previtali 2 Neuropathy related genes as possible modifiers of PMP22 related neuropathies Anneke van der Kooi Genetic and clinical finding in a cohort of 341 Chinese patients with Charcot-Marie- 3 Tooth disease Ruxu Zhang 4 The Polygenic Architecture of Carpal Tunnel Syndrome Akira Wiberg 5 Rab35 GTPase is an inhibitor of mTORC1 and regulates myelination in the PNS Federica Grandi Dominant mutations of a Notch pathway component cause type 2 Charcot-Marie- 6 Tooth disease Jeremy Sullivan Mutations In The Small Heat Shock Proteins HSPB1 And HSPB8 Impair The 7 Autophagic Flux Angela Sisto 8 molecular mechanisms of impaired sensory nerve regeneration in diabetes Sung-Tsang Hsieh Mutations in SCL25A46 cause a spectrum of clinical phenotypes including axonal 9 CMT with optic atrophy. Carolynne Doherty Clinical heterogenity of p.Val30Met mutation in transthyretin-related familial amyloid 10 polyneuropaty in Turkey Hacer Durmus Impact of Inotersen on Functioning for Patients with hATTR Amyloidosis: Results 11 from a Placebo-Controlled Trial Spencer Guthrie CMT1 with nerve conduction blocks caused by a homozygous mutation in the LITAF 12 gene Marion Masingue 13 Morphometric Analysis of Peripheral Myelinated Nerve Fibers through Deep Learning Jun Li A cellular model of iPS-derived motor neurons to investigate a GDAP1-associated 14 form of Charcot-Marie-Tooth disease Federica Miressi A diagnostic challenge: 10-year-old boy with leucoencephalopathy, bulbar 15 dysfunction, optic atrophy, nystagmus and motor neuronopathy. Shaimaa Elaidy 16 Lipodystrophy in CMT1A points out a new inborn error of lipid metabolism Davide Visigalli 17 The Role of TTR in Health and Disease Laura Obici 18 Reliability of the CMTPedS Training and Quality Assurance Program Timothy Estilow A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the 19 EGR2 gene. Stefano Tozza The role of defective endoplasmic reticulum-mitochondria relationship in CMT2A nathalie Bernard- 20 pathology Marissal Phenotypic and neurophysiological variability in two related female patients with Catarina Falcão de 21 CMTX1 Campos 22 Longitudinal Assessment of Iowa FAP Cohort Treated with siRNA Shawna Feely Digitally assessed real-world diversity in people with Charcot-Marie-Tooth disease in 23 the UK and US Mark Larkin A Comprehensive Update of the Inherited Neuropathies Consortium of the Rare 24 Diseases Clinical Research Network Chelsea Bacon SOLVING FAMILIES ON THE GENESIS PLATFORM: A DIAGNOSTIC 25 FLOWCHART BASED ON CLINVAR STATUS Vivian Cintra Rodrigo Diniz da 26 Temporal dispersion in CMTX1 nerve conduction studies Gama Hereditary Transthyretin-Mediated (hATTR) Amyloidosis: French Perspective on the 27 Patient Journey David Adams Autosomal Dominant, Late Onset Scapulotibial Motor Neuropathy/Neuronopathy: 28 Expanding the Spectrum of DCTN1-Related Disorders. Matthew Burford Early PXT3003 therapy delays disease onset in a rat model of Charcot-Marie-Tooth 29 disease 1A (CMT1A) Thomas Prukop Nerve excitability properties of upper limb sensory and motor axons: a comparative 30 study Antonia Carroll 31 A molecularly characterised CMT cohort in the West of Scotland Kathryn Brennan 32 TTR mutations in patients diagnosed as having CIDP Wilson Marques Jr. Hereditary transthyretin amyloidosis (hATTR): description of the first cohort of V122I 33 patients from South Italy Anna Mazzeo 34 Variation in Ankle Dynamics During Gait in Youth with Charcot-Marie-Tooth Type 1A Sylvia Ounpuu 35 Emilin1 Defect In Distal Lower Limb Laxity And Motor Neuropathy Chiara FIORILLO 36 Peripheral Nerves Impairment in Idiopathic Parkinson’s Disease Ani Antia 37 Two 173 point mutations in HMBS gene causing acute intermittent porphyria Jie Lin 38 Transthyretin Familial Amyloid Polyneuropathy: Impact of mutation type on symptoms Christopher Gibbons Predictive modeling reveals threonyl-tRNA synthetase (TARS) as a candidate gene 39 for axonal peripheral neuropathy Anthony Antonellis NEXT-GENERATION SEQUENCING (NGS) BY A GENE-PANEL APPROACH IN 40 INHERITED PERIPHERAL NEUROPATHIES. Moreno Ferrarini Studying the role of HINT1 as a transcriptional regulator and its involvement in 41 peripheral neuropathies Silvia Amor-Barris Molecular diagnosis approach of Hereditary Peripheral Neuropathies in a French Guillemette 42 reference center. Beaudonnet 43 Extending the Scope of Diagnostic Gene Panels in CMT Improves Diagnostic Yield Menelaos Pipis AHNAK2 mutations in a Malaysian family with autosomal recessive demyelinating 44 CMT Azlina Ahmad-Annuar Real-world Effectiveness of Tafamidis in Patients with Transthyretin Amyloidosis with 45 Polyneuropathy in THAOS Laura Obici Modern Gene and Allele Discovery, Evaluation in CMT: The Genesis Platform and 46 the Variant Browser Lisa Abreu 47 NARS As A Candidate Gene In A Dominant CMT2 Family Willem De Ridder Comparative transcriptomics of aminoacyl-tRNA synthetases mutations in an induced 48 neural progenitor cell model Matthew Jennings A Novel SPTLC1 Mutation In Potentially Treatable Hereditary Sensory And 50 Autonomic Neuropathy Type I. Federica Boso CMT1A AND IMPAIRED PATIENT MOBILITY: EXPRESSIONS, REMEDIES AND 51 IMPACT ON QUALITY OF LIFE Allison Moore c.2125_2133del is a new mutation in MFN2 gene resulting in a Heterogeneous 52 Phenotypic Spectrum Fernanda Figueiredo F WAVE PERSISTENCE IN THE DIFFERENTIAL DIAGNOSIS OF SENSORY 54 POLYNEUROPATHIES AND NEURONOPATHIES Fabricio Diniz de Lima Targeting a core axonal degeneration program to treat vincristine and bortezomib- 56 induced axonal degeneration Stefanie Geisler Impact of Multidisciplinary Intensive Neurorehabilitation on Peripheral Neuropathies: 57 a Retrospective Study Elda Judica 59 Prevalence of Central and Peripheral Nervous System Disorders in Hemophiliacs Francisco Gondim Associations of falls in cancer patients with chemotherapy-induced peripheral 60 neurotoxicity (CIPN). Andreas Argyriou Transplantation of Human iPSC-derived Motor Neurons for Denervation Induced 61 Muscle Atrophy Robert Baloh 62 Repeater F-waves In Carpal Tunnel Syndrome Akiko Hachisuka Schwann Cell- and Neuronal- Specific Translatome in Diet-Induced Allodynia Mouse 63 Model Virginie Aubert NONcNZO and Tallyho Mice: Novel Mouse Models of Type 2 Diabetes that Develop 64 Peripheral Neuropathy John Hayes Folate Deficiency is Associated with Distal Symmetric Polyneuropathy in Zambia: 65 Results from a Case-Control Study Michelle Kvalsund MRI and Triple Stimulation Technique to detect brachial plexus abnormalities in 66 Multifocal Motor Neuropathy Emilien Delmont Role of Supportive Diagnostic Criteria in Chronic Inflammatory Demyelinating Eduardo Nobile- 67 Polyradiculoneuropathy: Data from the Italian Database Orazio Guillain-Barré Syndrome following Arboviral Infection in Northeast Brazil: a Case 68 Series Sonja Leonhard Biallelic Neurofascin variants affect paranodal axoglial junctions causing 69 neurodevelopmental impairment and central and peripheral demyelination Stephanie Efthymiou Peripheral Nervous System (PNS) Toxicity Induced by Immune-checkpoint Inhibitors 70 in Cancer Patients: Single Centre Experience. Silvia Bocci Rare and Challenging case of Guillain- Barre syndrome associated with stroke Anomali 71 secondary to spotted fever Vidanagamage Ten Year Plateau in HIV-Induced Motor Neurone Disease: a First Case from Sub- 72 Saharan Africa. Marieke Dekker 73 Updated CSF Total Protein Reference Values Improve CIDP Diagnosis Ari Breiner The effect of phosphodiesterase-2 inhibitor on CX3C chemokine axis in experimental 74 autoimmune neuritis Toshiki Fujioka Sevim Erdem- 75 Toscana virus associated with Guillain-Barré Syndrome: A case-control study Ozdamar 76 The Utility of Guillain-Barré Syndrome Prognostic Models in Malaysian Patients Cheng-Yin Tan A multicenter prospective study aimed to validate sphingomyelin as a biomarker for Giovanna 77 acquired dysimmune neuropathies Capodivento Enhanced Proinflammatory T cell pathology in Chronic Inflammatory Demyelinating 78 Polyneuropathy Karissa Gable Fc-gamma ReceptorIIIa Polymorphism is Associated with Severity in Guillain-Barré 79 Syndrome Shoma Hayat Clinical Response and Progression over time for Multifocal Motor Neuropathy(MMN) 80 Treated with Intravenous Immunoglobulin(IVIG) Peck Kee Chia 81 Natural History of Lumbosacral Radiculoplexus Neuropathy P James Dyck 82 Risk factors for Lumbosacral Radiculoplexus Neuropathy P James Dyck Peripheral Nerve Involvement in Malignancies: an Overview on Chronic Inflammatory 83 Demyelinating Polyradiculoneuropathy (CIDP) and Cancer. Marta Campagnolo Targeting Axonal or Glial Membranes with Anti-GM1 Antibody to Model Axonal and 84 Demyelinating Peripheral Neuropathies Clare Campbell Immuno-mediated polyneuropathies: A 15-year experience of a tertiary 85 neuromuscular center Luca Gentile Habibul rahman 86 Working up peripheral neuropathy in under-resourced regions- a case in point Habib Therapeutic response and long-term outcomes in Lewis-Sumner patients: revisiting 87 the syndrome three decades later Guillaume Fargeot 88 Clinical and Electrophysiological profile of patients with CIDP Pravallika Dutta 89 Microscopic Polyangiitis Presenting with Extensive PNS and CNS Manifestations Seok-Jin Choi 90 Clinical and treatment patterns of CIDP across India- Questionnaire Based study Meena AK Depression, Quality-of-Life and Health Status During Long-Term IVIG (Gamunex® 91 10%) Therapy in CIDP Patients Juliane Klehmet 92 Serum
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