2018 International Congress » Rare Genetic and Metabolic Diseases

1:45pm-3:15pm

A novel homozygous splice site mutation in the KIF1C gene (SPAX2, SPG58) found in a consanguineous turkish family

E. Grauer, N. Pluta, P. Müller, D. Zeller, C. Ip, J. Volkmann, E. Kunstmann, T. Musacchio (Würzburg, Germany)

1:45pm-3:15pm

A Randomized Trial of Deferiprone for Pantothenate Kinase-Associated Neurodegeneration

T. Klopstock, F. Tricta, L. Neumayr, I. Karin, G. Zorzi, C. Fradette, T. Kmieć, B. Buechner, H. Steele, R. Horvath, P. Chinnery, A. Basu, C. Küpper, C. Neuhofer, P. Dušek, F. Zhao, F. Zibordi, N. Nardocci, C. Aguilar, S. Hayflick, M. Spino, A. Blamire, P. Hogarth, E. Vichinsky (Munich, Germany)

1:45pm-3:15pm

An early-onset parkinsonism revealing a Gaucher disease with a heterozygous mutation in GBA gene: A case report

R. Zouari, S. Ben Romdhan, N. Farhat, S. Sakka, H. Haj Kacem, O. Hdiji, M. Dammak, C. Mhiri (Sfax, Tunisia)

1:45pm-3:15pm

An international survey of stiff person spectrum disorders: Exploring the clinical spectrum and unmet needs

B. Balint, E. Gatto, J. Etcheverry, M. Cesarini, V. Virginia Parisi, M. Rodriguez Violante, P. Garcia Ruiz, K. Bhatia (London, United Kingdom)

1:45pm-3:15pm

Biological course and natural history of hereditary spastic paraplegia type 11 (SPG11)

T. Musacchio, K. Nohl, K. Boelmans, V. Maltese, D. Zeller, I. Isaias, J. Volkmann, S. Klebe (Würzburg, Germany)

1:45pm-3:15pm

Cerebrotendinous Xanthomatosis: A heterogeneous condition

D. Cerdán, B. Fernández, J. Eguizábal, P. Gil, A. Mendoza, A. Castrillo, F. Rodríguez, C. Tabernero, J. Duarte (Segovia, Spain)

1:45pm-3:15pm

Chinese patients with Wilson disease and the treatments: exampled with Unithiol (DMPS) intravenous infusion

X.P. Wang (Shanghai, China)

1:45pm-3:15pm

Chitotriosidase is a biomarker for Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)

S. Hayer, J. Böhringer, L. Schöls (Tübingen, Germany)

1:45pm-3:15pm

Clinical characterization of tremor in patients with Phenylketonuria (PKU)

F. Nardecchia, F. Manti, S. De Leo, C. Carducci, V. Leuzzi (Rome, Italy)

1:45pm-3:15pm

Contribution of the French registry in the understanding of Wilson disease

A. Poujois, N. Girardot, A.S. Brunet, A. Lachaux, F. Woimant (Paris, France)

1:45pm-3:15pm

Diagnostic tips from a case series of patients with Late Onset Tay Sachs disease

G.M. Riboldi, K. Anstett, H. Lau (New York, NY, USA)

1:45pm-3:15pm

Does Niemann Pick Type C heterozygosity predispose to late-onset neurodegeneration?

T. Bremova, C. Sztatecsny, M. Moser, A. Rominger, T. Stephan, J. Havla, K. Hartmann, D. Clevert, M. Strupp, S. Schneider (Munich, Germany)

1:45pm-3:15pm

Dystonia ataxia (DYTCA) syndrome with prominent handwriting deterioration associated with ADCK3 mutation: two new cases and an overview of the literature

S. Galosi, T. Schirinzi, E. Bertini, R. Haas, F.M. Santorelli, V. Leuzzi, J.R. Friedman (Rome, Italy)

1:45pm-3:15pm

Exosomal alpha synuclein secretion is beneficial for cellular models of Kufor-Rakeb syndrome

T. Tsunemi, Y. Ishiguro, A. Yoroisaka, W. Akamatsu, D. Krainc, N. Hattori (Tokyo, Japan)

1:45pm-3:15pm

Expanding the clinical phenotype of BPAN: A case report

M. Boca, A. Herwadkar, C. Breen, M. Silverdale, C. Kobylecki (Salford, United Kingdom)

1:45pm-3:15pm

Explosive flurry of seizures and new-onset cortical-subcortical lesions in a patient with Wilson disease

A. Aggarwal, M. Munshi, P. Gadgil, D. Sanghvi, M. Bhatt (Mumbai, India)

1:45pm-3:15pm

High dose of levodopa and Segawa disease

M. Taghiyeva (Baku, Azerbaijan)

1:45pm-3:15pm

Juvenile parkinsonism associated with a novel HSD17B10 mutation in a patient with HSD10 disease

M. Rosário, O. Moldovan, S. Reimão, I. Chendo, J. Crawford, M. Rosa, L. Guedes (Lisbon, Portugal)

1:45pm-3:15pm

Movement disorder associated with 3-Idroxyisobutyryl-Coa hydrolase (HIBCH) deficiency

F. Nardecchia, L. Pollini, C. Carducci, M. Tolve, S. De Leo, C. Carducci, V. Leuzzi (Rome, Italy)

1:45pm-3:15pm

Neurologic Wilson’s Disease: Case Series on a Diagnostic and Therapeutic Emergency

R. Porlas, L. De Castillo, C. Dioquino (Manila, Philippines)

1:45pm-3:15pm

Neurological improvement with WTX101 treatment in a Phase 2, multi-center, open label study in Wilson Disease

D. Bega, J. Bronstein, D. Nicholl, F. Askari, A. Ala, P. Ferenci, C. Bjartmar, KH. Weiss, M. Schilsky, A. Czlonkowska (Chicago, IL, USA)

1:45pm-3:15pm

Neuropathology of a South Korean with Perry syndrome with DCTN1 T78C mutation

S. Kim, E. Chung, J. Baik (Busan, Republic of Korea)

1:45pm-3:15pm

Oligosymptomatic Fahr’s syndrome (2 clinical cases)

Y. Solodovnikova (Odessa, Ukraine)

1:45pm-3:15pm

Parkinsonism in Christianson Syndrome: A Unique Presentation of a Unique Syndrome

S. Chandra, K. Rao, A. Ghosh, J. Ray, H. Northrup, E. Stimming (Houston, TX, USA)

1:45pm-3:15pm

Patient and Caregiver Experience With Pantothenate Kinase-Associated Neurodegeneration

H. Jinnah, W. Lenderking, A. Collins, M. Escolar, T. Klopstock, M. Kruer, A. Videnovic, A. Robichaux-Viehoever, L. Swett, D. Revicki, R. Bender, R. Marshall (Atlanta, GA, USA)

1:45pm-3:15pm

Quantitative oculomotor assessment and non-motor biomarkers in late-onset GM2 gangliosidosis

C. Stephen, D. Balkwill, P. James, K. Sassower, J. Schmahmann, R. Lewis, F. Eichler (Boston, MA, USA)

1:45pm-3:15pm

The first case of Perry syndrome in Estonia

K. Vender, T. Toomsoo, I. Kalju, I. Rubanovits, K. Joost, P. Taba (Tallinn, Estonia)