MDS Virtual Congress 2020 » Rare Genetic and Metabolic Diseases

A translational approach to determine target concentrations of MIN-102 (leriglitazone) to support a Phase II study in Friedreich’s ataxia

S. Poli, L. Rodríguez-Pascau, J. Ros, P. González-Cabo, E. Britti, D. Lynch, G. Pina, S. Pascual, M. Cerrada-Gimenez, D. Eckland, E. Traver, J. Wetering-de-Rooij, M. Martinell, U. Meya, P. Pizcueta (Gosselies, Belgium)

Adrenoleukodystrophy Spastic Gait: Treatment with Fampridine

E. Gisbert Tijeras, N. López Aríztegui, M.I Morales Casado, F. Muñoz Escudero, A. Fernández, N. García Alvarado, Á. Jamilena López, A. Fernández-Corada (Toledo, Spain)

Botulinum Toxin dose optimization in pediatric DYT1 type Focal Hand Dystonia and tremor

A. Lin, K. Set (Dayton, OH, USA)

Cerebrotendinous Xanthomatosis Tremor Successfully Controlled post-VIM-Deep Brain Stimulation

S. De Jesus, J. Davanzo, J. McInerney, E. Farace (Hershey, PA, USA)

Comprehensive Screening of Genetic, Genomic, Mitochondrial, and Microbiome Associations with Phenotypic Measures in the Dominican Republic PKAN Cohort

C. Muniz, S. Baser, C. Bass, R. Ericson, A. Espinoza, I. Ojukwu, A. Brindle, M. Santana Jimenez, F. Middleton (Santo Domingo, Dominican Republic)

Cooper-deficiency myeloneuropathy in Wilson´s Disease as a result of D-penicillamine treatment: A case report

A. Gomes, F. Rolim, K. Menezes, L. Brito, A. Moura, J. Lima, A. Marinho, G. Ferreira, F. Carvalho (Fortaleza, Brazil)

KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?

D. Portela, M. Correa, M. Gomes, G. Noleto, C. Costa, J. Lopes, L. de Oliveira (Teresina, Brazil)

Loss‐of‐function mutations in NR4A2 cause dopa‐responsive dystonia-parkinsonism

T. Wirth, LL. Mariani, G. Bergant, M. Baulac, M.O Habert, N. Drouot, E. Ollivier, A. Hodžic, G.o Rudolf, P. Nitschke, G.a Rudolf, J. Chelly, C. Tranchant, M. Anheim, E. Roze (London, United Kingdom)

Mcleod syndrome: Systematic review with meta-analysis

A. Rochel Pérez, O. Cuevas Koh, K. Santos Zaldivar, R. Leal Ortega, R. Janssen-Aguilar, N. Mendez Dominguez (Mérida, Mexico)

Olfactory impairment in Wilson’s disease

L.i Chen, X. Wang (Tianjin, China)

Phenotypic analysis of subjects with homozygous and compound heterozygous PANK2 mutations in a single extended pedigree from the Dominican Republic (DR) PKAN cohort

F. Middleton, C. Muniz, I. Ojukwu, M. Santana Jimenez, P. Stoeter, R. Ericson, A. Espinoza, C. Bass, P. Roa, S. Baser (Santo Domingo, Dominican Republic)

PKAN is associated with significant peripheral metabolic alterations in the Dominican Republic cohort

C. Bass, F. Middleton, C. Muniz, A. Espinoza, M. Santana Jimenez, S. Baser (Pittsburgh, PA, USA)

PNPLA6-related Disorder With Expanded Phenotype Including Parkinsonism, Dystonia, And Abnormal Dopamine Transporter Imaging

J. Witt, M. Davis (Seattle, WA, USA)

POLR3A Leukodystrophy presenting with levodopa responsive parkinsonism

K. Kyle, J. Bronstein, Y. Bordelon (Los Angeles, CA, USA)

Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome

S. Weber, M. Zech, S. Boesch, J. Winkelmann (Kassel, Germany)

Sensory Trick in Oromandibular and Tongue Dystonia in Patient with Wilson’s Disease

C. Shambetova (Bishkek, Kyrgyzstan)

SYNGAP1-related intellectual disability with ataxia and late onset of epileptic seizures

N. Gogatishvili, T. Tkemaladze, V. Skrahina, S. Kasradze, A. Rolfs (Tbilisi, Georgia)

Wilson and Parkinson’s Disease: Beyond Copper Metabolism

B. Baena Álvarez, R. Sainz Amo, F. Rodríguez Jorge, J. Masjuán Vallejo, J.C Martínez Castillo, A. Celdrán, J. Vaamonde Gamo, J.P Cabello, D. Burgos Santamaría, G. Sánchez Díez, I. Parées Moreno, G. Garcia-Ribas, A. Alonso Cánovas (Madrid, Spain)