2026 International Congress » Rare Neurometabolic Movement Disorders

Meeting: 2026 International Congress

A Novel Homozygous Variant in MYORG is Associated with Primary Brain Calcification and Paroxysmal Dyskinesia

Y. Guo, L. Wang, X. Wang, Z. Cen, W. Luo (Zhejiang, China)

A Novel Hyperkinetic–Cerebellar Phenotype with Subependymal Nodules in Glutaric Acidemia Type 1

D. Avecilla-Bonilla, K. Salinas-Barboza, D. Ramírez álvarez, L. Salinas-Yañez, J. Altamirano (Mexico, Mexico)

A Novel SPG11 Splice-Site Mutation in Hereditary Spastic Paraplegia: Clinical, Radiologic, and Genetic Insights from the First Philippine Case

E. Naoe (Manila, Philippines)

A Phase 3, Multinational, Randomized, Placebo-Controlled, Double-Blind, Crossover Trial (IB1001-304) Evaluating Levacetylleucine in CACNA1A Disorders

B. Zanrucha, T. Bremova-Ertl, M. Patterson, M. Strupp, J. Kerthi, J. Raymond, T. Fields, I. Billington, K. Martakis (Austin, USA)

Accelerated brain iron accumulation secondary to hypoxia in a patient with hereditary haemochromatosis with homozygous C282Y mutations.

A. Chakraborty, D. Gallagher, C. Simonet, N. Gorgoraptis (London, United Kingdom)

Adolescent-onset Myoclonus Dystonia in MT-ND6 m.14487T>C–Associated Leigh Syndrome

Y. Nishonova, S. Shokirov, I. Mazunin, O. Turgunkhujaev (Moscow, Russian Federation)

An interesting case of progressive vision loss and unusual gait

A. Kumar, S. Kumar (Patna, India)

Calcification Foci Caused by Gene Defects in Primary Brain Calcification May Originate from Matrix Vesicle

X. Jin, L. Wang, W. Luo (Zhejiang, China)

Characterizing Movement Disorders in Niemann-Pick Disease Type C -A Registry-Based Analysis with Findings from the International Niemann-Pick-Disease Registry (INPDR)

A. Menetrey, A. Ambrad, S. Bolton, N. Martin, M. Inbar-Feigenberg, C. Gorodetsky (Washington, United Kingdom)

Choreoathetosis revealing vitamin B12 deficiency : an unusual manifestation of subacute combined degeneration

O. Sakli, R. Zouari, A. Rachdi, Z. Saied, F. Nabli, D. Ben Mohamed, S. Ben Sassi (Tunis, Tunisia)

Clinical and Functional Outcomes of Antiviral and Immunomodulatory Therapies in Subacute Sclerosing Panencephalitis

S. Errabelly, V. Jadhav, M. Tripathi, D. Dash, P. Mohapatra, E. Arunmozhimaran (New Delhi, India)

Clinical, Neuropathological, and Functional Analysis of the Most Prevalent CSF1R Pathogenic Variant, p. Ile794Thr.

L. Milanowski, D. Liskey, M. Baker, A. Strongosky, D. Dickson, T. Kanekiyo, Z. Wszolek (Warsaw, Poland)

Diagnostic Odyssey in L-2-Hydroxyglutaric Aciduria: A Case with Progressive Cerebellar and Extrapyramidal Movement Disorder

A. Saini, S. Mehta (chandigarh, India)

Establishing the Diagnosis of Wilson’s Disease using the Leipzig Criteria in Patients with Neurological Manifestation: A Single-Center Observation

S. Kumar, S. Shah, C. Kumari, M. Afzal, D. Kumar, N. Bullo (Karachi, Pakistan)

Evaluation of Cardiac Markers and Clinical Metrics in Friedreich’s Ataxia

T. Keller, F. Siddiqui, C. Koehring, T. Zesiewicz, K. Zayas, A. Barrios Gonzalez, K. Kim, T. Mcdonald, A. Patel (Tampa, USA)

Exchangeable copper as a monitoring tool in Wilson disease: lessons from a 24-month prospective cohort

C. Desjardins, N. Djebrani-Oussedik, M. Obadia, D. Rahli, D. Debray, A. Poujois (Paris, France)

Hyperkinetic Movement Disorder as the First Manifestation of Gaucher Disease Type 3

B. Kocer, E. Ercan (Ankara, Turkey)

Intravenous AAVrh.10hFXN (LX2006) Gene Therapy in Friedreich Ataxia: Early Neurologic Assessment from Two Phase 1 and 2 Studies

T. Zesiewicz, T. Vu, J. Weinsalft, S. Kaminsky, A. Patel, R. Gavrilova, S. Perlman, U. Krishnan, M. Galbraith, N. Savage, R. Kaner, M. Vo, H. Sarva, A. Yoo, D. Sondhi, C. Rummey, G. Aubert, A. Khan, S. Ghanekar, R. Crystal (Tampa, USA)

MT200605 for Huntington’s Disease: Nonclinical finding and Phase I Clinical Result

L. Yongzhen, W. Ying, W. Xiangling, W. Xiaobing, W. Linyuan, W. Ruiling, H. Zhian, W. Bing (XIAN, China)

Natural History of Sialidosis Type I: A Prospective Longitudinal Follow-Up Study of Clinical and Electrophysiological Markers

BY. Gu, YC. Kuo, HW. Hsueh, SP. Fan, CW. Lin, CY. Chien, TK. Lin, MY. Lan, YY. Chang, NC. Lee, YH. Chien, WL. Hwu, CH. Lin (Taipei, Taiwan)

Perrault Syndrome in a Young Adult with Co-existing HSD17B4 Variant and CNBP Mutation

I. Molina, D. Mohanty (Albuquerque, USA)

Portosystemic Shunt Related Parkinsonism in Acquired Hepatocerebral Degeneration With Persistent Pallidal T1 Hyperintensity

A. Pronina, N. Fedotova, M. Usupova, E. Brill (Moscow, Russian Federation)

Positive Results from a Global Phase 3 Trial (IB1001-303) Evaluating Levacetylleucine in Ataxia-Telangiectasia

B. Zanrucha, M. Patterson, T. Bremova-Ertl, M. Strupp, J. Raymond, J. Kerthi, T. Fields, I. Billington, K. Martakis (Austin, USA)

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

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