2022 International Congress » Genetics (Non-PD)

A novel compound heterozygous PANK2 gene mutation in a South- Asian sexagenarian with atypical PKAN

K. Pillai, B. Maramattom, S. Grover, A. Kishore (Kochi, India)

ASYMMETRIC EARLY-ONSET PARKINSONISM DUE TO PSEN1 MUTATION

E. Luque-Buzo, J. Pérez Sáchez, M. Gonzalez-Sanchez, A. Contreras-Chicote, S. Secades, B. Casa-Fages, F. Grandas (Madrid, Spain)

Clinical and genetic research in a large Ukrainian family with autosomal recessive hereditary spastic paraplegia

A. Orlacchio, M. Stasi, A. Stigliano, M. Miele, F. Gaudiello, A. Meyyazhagan (Rome, Italy)

Dopa-responsive Combined Dystonia Due to ATP1A3 Gene Variant

M. Soares, J. Parmera, M. Bezerra (São Paulo, Brazil)

Endocannabinoid Dysfunction in Human Disease: Neuro-Ocular DAGLA-related Syndrome (NODrS), a unique pediatric condition

J. Friedman, A. Mazumder, D. Ogasawara, R. Abou Jamra, G. Bernard, E. Bertini, L. Burglen, A. Crawford, H. Cope, A. Derksen, L. Dure, E. Gantz, M. Koch-Hogrebe, A. Hurst, S. Mahida, P. Marshall, A. Micalizzi, A. Novelli, H. Peng, *. Rady-Children'S-Institute-For-Genomic-Medicine, D. Rodriguez, S. Robbins, L. Rutledge, R. Scalise, S. Schließke, V. Shashi, S. Srivastava, I. Thiffault, S. Topol, *. Undiagnosed-Disease-Network, L. Qebibo, D. Wieczorek, B. Cravatt, S. Haricharan, A. Torkamani, M. Bainbridge (San Diego, USA)

Intrafamilial phenotypic variability of spastic paraplegia type 7: A Case Report

D. Shah-Zamora, M. Rosenbaum (Chicago, USA)

Motor, epileptic, and developmental phenotypes in genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism

S. Galosi, L. Pollini, M. Novelli, K. Bernardi, M. Di Rocco, S. Martinelli, V. Leuzzi (Rome, Italy)

Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis

SM. Fereshtehnejad, P. Saleh, L. Oliveira, N. Patel, S. Bhowmick, G. Saranza, L. Kalia (Ottawa, Canada)

Mutant WDR45 leads to altered ferroptosis in β-propeller protein-associated neurodegeneration

S H. Diaw, C. Ganos, S. Zittel, K. Plötze-Martin, L. Kulikovskaja, A. Westenberger, M. Vos, A. Rakovic, M. Dulovic-Mahlow, K. Lohmann (Lübeck, Germany)

Mutation in TUBB4a causing from dystonia to spastic quadriparesis across one family

A. Milovanović, O. Stojiljkovic Tamaš, N. Dragašević Mišković, M. Janković, I. Novaković, M. Svetel, V. Kostić (Belgrade, Serbia)

Neurodegeneration associated with pantothenate kinase in a Mexican Patient: Solving the Diagnostic Challenge of the Eye of Tiger

M. Arbeu Reyes, B. Madariaga Cortés, C. Aguilar Vázquez (Mexico City, Mexico)

The Spectrum of Movement Disorders Associated With NUS1 Pathogenic Variants

NE. Mencacci, N. Prakash, E. Gerard, L. Kinsley, BK. Bölsterli, R. Steinfeld, C. Ellis, T. Tropea, T. Bardakjian, A. Lavillaureix, M. Ugolin, C. Thauvin-Robinet, M. Brugger, KM. Riedhammer, T. Opladen, T. Wirth, C. Tranchant, M. Anheim, J. Chelly, BA. Mendelsohn, S. Nandipati, A. Stembridge, HS. Dafsari, H. Zempel, P. Herkenrath, S. Mercimek-Andrews, T. Laut, J. Necpal, R. Jech, M. Zech, G. Trieschmann, S. Berweck, O. Vanakker, D. Gill, F. Gardiner, S. Mohammad, H. Mefford, I. Scheffer, G. Carvill, D. Krainc (Chicago, USA)

Tremor genetics in clinical practice: a systematic literature review

C. Everlo, M. Tijssen, C. Marras, C. Klein, D. Verbeek, T. de Koning, M. V.D. Stouwe (Groningen, Netherlands)

Whole exome sequencing in 62 families with early-onset movement disorders, cerebellar ataxia and hereditary spastic paraplegia from Kazakhstan, Tajikistan, and Azerbaijan

R. Kaiyrzhanov, M. Ganieva, K. Salayev, U. Guliyeva, S. Gulieva, C. Shashkin, M. Isoqova, N. Asilova, S. Ibrohimov, A. Zeynalova, S. Badalova, I. Hajiyeva, R. Ibadova, N. Zharkinbekova, H. Houlden (Shymkent, Kazakhstan)