MDS Virtual Congress 2021 » Rare Genetic and Metabolic Diseases

A young man with rapidly progressive spastic hemiplegia.

J. Abreu, C. Serrano, D. Reyes, B. Deliz, E. Labat (San Juan, Puerto Rico)

Childhood-Onset Hemidystonia: A Transportophaty related to SLC6A3 missense mutation

G. Prado-Miranda, K. Salinas-Barboza, JM. Altamirano, AA. Alvarado-Bolaños (Mexico City, Mexico)

Clinical presentation of Wilson’s disease in pediatric and adult patients: A systematic review

A. Rochel-Pérez, K. Santos-Zaldivar, O. Cuevas-Koh, M. Azuela-Morales, N. Méndez-Domínguez (Mérida, Mexico)

D-penicillamine induced lupus erythematosus – the complication of Wilson’s disease treatment – a case report.

A. Antos, T. Litwin, A. Przybyłkowski, M. Skowrońska, I. Kurkowska-Jastrzębska, A. Członkowska (Warsaw, Poland)

Dystonia due to GM3 synthase deficiency

A. Wang, C. Kilbane (South Euclid, USA)

Eye movement disorders in adolescents and adults with an inborn errors of metabolism

L. Koens, T. de Koning, M. Tijssen (Groningen, Netherlands)

Gait Improvement in Pegzilarginase-treated Patients With Arginase 1 Deficiency: A Blinded Kinematic Analysis

N. Foreman, G. Bubb, E. Bradford (Colleyville, USA)

Genotype-Phenotype Correlations in Niemann-Pick Disease Type C

N. Kresojević, M. Ječmenica Lukić, A. Tomić, I. Petrović, N. Dragašević, M. Svetel, V. Dobričić, M. Janković, I. Novaković, V. Kostić (Belgrade, Serbia)

GNAO1 related movement disorders: 2 longitudinally-followed cases

CC. Wang, S. Lee (Lebanon, USA)

Hyperintensity in Middle Cerebellar Peduncles, an infrequent and reversible finding in Marchiafava-Bignami Disease.

D. López Domínguez, M. Puig Casadevall, G. álvarez Bravo (Girona, Spain)

Impact of ALXN1840 on the neurological symptoms of Wilson disease: secondary outcomes of a phase 2, open-label, single-arm study

A. Członkowska, S. Moseley, E. Swenson, D. Bega, P. Hedera, D. Nicholl, J. Bronstein (Warsaw, Poland)

Long term follow-up of Wilson disease patients in Poland. Report from the national reference centre.

A. Członkowska, T. Litwin, ł. Kraiński, M. Skowrońska, A. Piechal, A. Antos, M. Niewada (Warszawa, Poland)

MOLECULAR-GENETIC ASPECTS OF WILSON’S DISEASE IN UKRAINE

I. Voloshyn-Haponov (Kharkiv, Ukraine)

PLA2G6-Associated Neurodegeneration: A Continuum of Phenotypes

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

Slowly progressive spastic paraplegia due to rare mitochondrial dysfunction: a clinical case

D. Silva, A. Travessa, R. Roque, L. Guedes (Lisbon, Portugal)

SPG21 in Europe: Mutations outside the Amish community

M. Amprosi, E. Indelicato, A. Eigentler, W. Nachbauer, S. Boesch (Innsbruck, Austria)

Wearable sensors are able to identify individuals in the prodromal phase of X-linked Dystonia-Parkinsonism

J. Steinhardt, H. Hanssen, M. Heldmann, A. Sprenger, A. Domingo, A. Domingo, C. Reyes, R. Rosales, C. Klein, T. Muente, A. Westenberger, J. Oropilla, C. Siesta, N. Brueggemann (Luebeck, Germany)