2024 International Congress » Rare Genetic and Metabolic Diseases

A Patient with Overlapping SPG7 mutation and MERRF

J. Patino, M. Koenig (Houston, USA)

A Unique case of Ataxia, Neuropathy, and chronic cough: CANVAS

R. Vasireddy, Y. Sun (Lexington, USA)

Adult-onset Niemann-Pick C in India: phenotype and genotype

S. Bhowmick, J. Ganguly, D. Garg, V. Holla, P. Wadia, H. Shah, P. Shah (Vadodara, India)

Association between Hyperglycemic Crisis Severity and Movement Disorders in Hispanic Patients with De Novo Hyperglycemia: A Cross-Sectional Study

D. Japón-Cueva, C. Rodriguez-Alarcon, A. Carofilis-Cornejo, L. Viñan-Paucar, M. Cueva-Espinoza, A. Benavidez-Lopez, P. Gruezo-Realpe, R. Santibanez-Vasquez (Guayaquil, Ecuador)

Autosomal Recessive GTPCH Deficiency: Redefining the Phenotypic Spectrum and Outcome

M. Novelli, M. Tolve, V. Quiroz, C. Carducci, R. Bove, G. Ricciardi, C. Yang, F. Pisani, D. Ebrahimi-Fakhari, S. Galosi, V. Leuzzi (Rome, Italy)

Autosomal Recessive Spastic Ataxia Secondary a Novel SPG7 Gene Pathogenic Variant: a Case Report

K. Salinas-Barboza, J. Altamirano, A. Armas-Salazar (CDMX, Mexico)

Can Heterozygous Autosomal Recessive Mutations Cause Neurological Disease?

L. Patil, M. Bhatt (Mumbai, India)

Cardiovascular Risk Profile in Patients with Primary Familial Brain Calcification

B. Snijders, M. Peters, P. de Jong, B. Lith, E. Brilstra, Y. Ruigrok, V. Schepers, E. van Valen, M. Emmelot-Vonk, H. Koek (Utrecht, Netherlands)

Clinical, Radiological and Genetic profile of Eight Patients with Genetically Proven Ceroid Lipofuscinosis Neuronal and Movement Disorders

VV. Holla, N. Kamble, G. Arunachal, B. Muthusamy, R. Yadav, PK. Pal (Bengaluru, India)

Dopa-responsive ataxia with compound heterozygous variants in MRE11

A. Dugar, E. Levine, M. Barbosa, W. Tse (New York, USA)

DPPX Autoimmune Encephalitis Associated with Severe Multifocal Dystonia.

E. Roddy, E. Gentry, P. Hedera, V. Holiday, D. Robertson (LOUISVILLE, USA)

Hemochromatosis and Movement Disorders

P J. Garcia Ruiz, C. Garcia Campos, C. Feliz, J. Del Val, J. Montoya (Torrelodones, Spain)

Juvenile DBP Deficiency – Case series

M. Roy, C. Goetz, M. Rosenbaum (Chicago, USA)

Laboratory changes of the liver function in the patients with Wilson’s disease

I. Voloshyn-Haponov, A. Teslenko, L. Cherkashyna, O. Korzh (Kharkiv, Ukraine)

Movement Disorder Presentations in Leukoenephalopathy with Calcifications and Cysts

L. Tochen, J. Harmon, J. Rhee, J. Fraser (Washington, USA)

Movement Disorders in Cerebrotendinous Xanthomatosis

M. Alquaimi, M. Almugbil, R. Sulaiman, Z. Alhassnan, S. Bohlega (Riyadh, Saudi Arabia)

Movement Disorders in De Novo Hyperglycemic Crisis: Insights from a Clinical Case Series

D. Japón-Cueva, C. Rodriguez-Alarcon, A. Carofilis-Cornejo, L. Viñan-Paucar, M. Cueva-Espinoza, P. Gruezo-Realpe, D. Ocampo, R. Santibanez-Vasquez (Guayaquil, Ecuador)

Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient

M. Danis, G. Krastev, J. Necpal, R. Jech, M. Zech (Trnava, Slovakia)

Neurodegeneration with brain iron accumulation in pediatric population: Clinico-radiologic and genetic features

D. Kalikavil Puthanveedu, A. Cherian (Thiruvananthapuram, India)

Novel ASO Targeting IGHMBP2 Cryptic Splice Variant: Efficacy and Safety

S. Smieszek, B. Przychodzen, C. Tyner, C. Johnson, C. Polymeropoulos, G. Birznieks, M. Polymeropoulos (Washington, USA)

Phenomenology of Coenzyme Q10-deficiency Spinocerebellar Ataxia: Case Description Of Two Siblings And New Therapeutic Perspectives

S. Cartella, S. Bertino, A. Gardin, S. Neri, A. Battaglia, G. Foti, C. Terranova, G. Cartella, A. Quartarone (Reggio Calabria, Italy)

Phenotypic variability of mitochondrial tRNA Ser(UCN) gene [MTTS1] mutation: First report from India

N. Pandita, J. Ganguly, P. Basu, N. Singh, S. Mukherjee, H. Kumar (Kolkata, India)

PMM2 mutation

H. Teive, J. Duarte, LE. de Farias, S. Raskin, F. Tensini, D. Amarante (Curitiba, Brazil)

Prevalence of immune-mediated diseases in long-term chelator therapy in Wilson’s Disease

C. Guedes Vaz, H. Pessegueiro, J. Castro Ferreira, J. Gandara, V. Dionísio Lopes, E. Silva, S. Ferreira, C. Pereira, D. Valadares, L. Maia, J. Presa, A. Pinto, A. Costa, C. Rolanda, C. Agostinho, I. Gonçalves, P. Peixoto, R. Costa, S. Lopes, M. Magalhães (Porto, Portugal)

Real-life experience of switching from D-penicillamine to trientine tetrahydrochloride – a nationwide registry study

A. Poujois, MA. Obadia, N. Oussedik-Djebrani, E. Couchonnal-Bedoya, D. Debray (PARIS, France)

SLC39A8-CDG with manganese deficiency in an adult individual: a case report

D. Cury Portela, T. Gonçalves Guimarães, G. Sousa Noleto, L. Sousa Araújo, I. Paula, S. Morais, V. Santana Vasconcelos (Teresina, Brazil)

Spastic Ataxia and Motorneuron disease as possible manifestations of ATP13A2 (PARK 9) variants

G. Dalla Zanna, A. Funcis, S. Rossi, F. Santorelli, M. Sabatelli, G. Silvestri (Rome, Italy)

Spectrum of Movement Disorders in Vitamin B12 Deficiency: A Case Series from India

L. Sahoo, A. Mishra, D. Dash, M. Karan (Bhubaneswar, India)

Startle Reflex in CTNNB1 Mutations: A diagnostic Clue

S. Nagaratnam, D. Wilson, M. Garcia, J. Qiu, D. Hadi, S. Mohammad, H. Morales Briceno (Westmead, Australia)

Tetradystonics patients may be misdiagnosed?

J. Duarte, H. Teive, F. Tensini, F. Germiniani (Curitiba, Brazil)

The Landscape of Neurodegeneration with Brain Iron Accumulation in Indian patients: Lessons from a Multicentric Cross-sectional Study

D. Garg, A. Agarwal, J. Ganguly, R. Kandadai, R. Rajan, S. Kola, D. Radhakrishnan, S. Bhowmick, M. Chandarana, S. Desai, V. Paramanandam, P. Basu, A. Saini, E. Arunmozhimaran, S. Garg, S. Mudassir, L. Sahoo, S. Sharma, H. Kumar, R. Borgohain, A. Garg, P. Kukkle, A. Srivastava (New Delhi, India)

The NINDS Approach to Therapeutic Development for Ultra-Rare Neurological Disorders, Bridging Translational and Clinical Frontiers in Gene-based Therapy

HJ. Cho, A. Videnovic, M. Cudkowicz, C. Coffey, D. Klements, M. Chase, J. Ohayon, C. Boshoff, A. Tamiz, C. Wright (Rockville, USA)

Therapeutic challenges of long-standing chelator therapy in Wilson’s Disease

C. Guedes Vaz, H. Pessegueiro, J. Castro Ferreira, J. Gandara, V. Dionísio Lopes, E. Silva, S. Ferreira, C. Pereira, D. Valadares, L. Maia, J. Presa, A. Pinto, A. Costa, C. Rolanda, C. Agostinho, I. Gonçalves, P. Peixoto, R. Costa, S. Lopes, M. Magalhães (Porto, Portugal)

Transition from Zinc Salts to Trientine Tetrahydrochloride in Wilson Disease: Clinical and Biochemical Effects over Two Years – the ZICUP study

A. Poujois, MA. Obadia, N. Oussedik-Djebrani, E. Couchonnal-Bedoya, F. Ory-Magne, D. Debray (France, France)

Unraveling the Complexity of Neurodegenerative Disorders: A Case Report of PKAN Suspected in a 24-Year-Old Patient with Severe Dystonia

L. Kenjaeva, B. Mukhammedaminov, R. Abdukakhkhorova (Tashkent, Uzbekistan)

Wilson’s Disease : A Senegalese Series of Seven Patients Followed at Pikine National Hospital Centre (Dakar-Senegal)

M. Fall, A. Diop, J. Kahwagi (Dakar, Senegal)