2025 International Congress » Rare Neurometabolic Diseases

Meeting: 2025 International Congress

A young Peruvian woman with a stairs conundrum: Scapuloperoneal spinal muscular atrophy (SPSMA) due to a TRPV4 mutation case report

W. Trillo Alvarez, J. Escalante Ortiz, L. Delgado Villanueva, R. Huanca Machon, K. Choque Pereyra, C. Pinto Torres, A. Carpio Peña, D. Cahuana Ibarra, S. Meza Caceres, C. Carlosviza Diaz (AREQUIPA, Peru)

Ataxia in PBC: The Overlooked Role of Fat-Soluble Vitamin Deficiency

M. Rajani, P. Prakash (Providence, USA)

Bilateral Pallidal Deep Brain Stimulation in Secondary Dystonia in Louis-Bar-Syndrome Patients – A Report of Two Cases-

N. Warneke, I. Claus, V. Zentsch, W. Stummer (Münster, Germany)

Diagnosis of GLUT1 Deficiency Syndrome in Adulthood

A. Taneja, T. Thomas (Dallas, USA)

Disease Monitoring through the PKAN Disease Rating Scale (PKAN-DRS) in Pantothenate Kinase-Associated Neurodegeneration (PKAN)

A. Salazar-Villacorta, R. Spaull, M. Correa-Vela, A. Cazurro, J. Ferrero Turión, A. Soo, M. González, A. Macaya, B. Pérez-Dueñas, M. Kurian (London, United Kingdom)

Genotype-Phenotype Relations in Neurodegeneration with Brain Iron Accumulation (NBIA) Genes: MDSGene Systematic Review

N. Reyes, R. Patel, J. Rodriguez-Antiguedad, R. Ramalingam, M. Hamed, A. Duarte, E. Fernandez-Toledo, C. Sun, S. Fereshtehnejad, Y. Mahjoub, M. Emamikhah, S. Camargos, J. Trinh, K. Lohmann, C. Klein, C. Marras, D. Olszewska (Brooklyn, USA)

Identification of Cerebrotendinous Xanthomatosis in Patients with Neurodegenerative Disorders from the Cincinnati Cohort Biomarker Program

L. Marsili, M. Kauffman, K. Duque, J. Abanto, R. Dutta, T. Pramparo, J. Terner-Rosenthal, A. Espay (Cincinnati, USA)

Microstructural Changes in the Striatum Correlate With Clinical Symptoms in Wilson Disease

A. Hausmann, S. Querbach, C. Rubbert, A. Schnitzler, J. Caspers, C. Hartmann (Düsseldorf, Germany)

Movement disorders as a manifestation of aceruloplasminemia a case report

A. Camargo (Bogota, Colombia)

Neuroimaging abnormalities of the striatopallidal regions in people with diabetes: A single-center retrospective study

N. Chunga, A. Gershteyn, K. Palermo-Cruz, R. Ramchandran, G. Schifitto, K. Lizarraga (Rochester, USA)

Neurological manifestations and genotypes of Gaucher disease type 3: MDSGene systematic review

S. Schaake, T. Usnich, J. Boehm, N. Steffen, N. Schell, C. Krüger, T. Gül-Demirkale, N. Bahr, T. Kleinz, H. Madoev, B. Laabs, Z. Gan-Or, R. Alcalay, C. Marras, K. Lohmann, C. Klein, M. Rossi (Luebeck, Germany)

Oligodendrocyte-specific mRNA therapy with lipid nanoparticles

M. Sawamura, K. Tachikawa, R. Hikawa, H. Yamakado, R. Takahashi, S. Matsuzawa (San Diego, USA)

Phenotypic Spectrum In Children And Adolescents With Glucose Transporter 1 Deficiency A Multicentric Retrospective Study

S. Yoganathan, C. Pefaur, V. Gowda, V. Cornejo, V. Quiroz, P. Jain, S. Sharma, L. Guilder, G. Costain, I. Tein, C. Gorodetksy (Toronto, Canada)

Precision Gene Therapy Results in Clinical Benefit and Developmental Gains for Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): The UK Experience

A. Salazar-Villacorta, R. Spaull, L. Carr, J. Hassell, S. Pope, S. Heales, R. Shihurkar, K. Bankiewicz, T. Pearson, K. Aquilina, M. Kurian (London, United Kingdom)

The Severity and Burden of Movement Disorder Symptomology in Patients with Cerebrotendinous Xanthomatosis: A US-based Survey

F. Eichler, R. Hanke, C. Higuera, B. Wishart, B. Blanchard, G. Bryce, N. Odedara, S. Laurie, R. Dutta, J. Terner-Rosenthal, R. Aguilar, T. Pramparo, J. Pickford (Boston, USA)

Using Zebrafish Model to Investigate Complex Hereditary Spastic Paraplegia Caused by EPT1 Variants

S. Wang, S. Banka, M. Lowe, A. Nicolaou (Manchester, United Kingdom)

Wilson’s Disease with Hereditary Hemorrhagic Telangiectasia and Pituitary Microadenoma: A Case Report

D. Dai, L. Li, X. Xu (Urumqi, China)

« View all sessions from the 2025 International Congress.