20th International Congress » Rare genetic and metabolic diseases

Date: Tuesday, June 21, 2016

Time: 12:30pm-2:00pm

Location: Exhibit Hall located in Hall B, Level 2

Session Type: Poster Session

Meeting: 20th International Congress

12:30pm-2:00pm: A heterozygous splicing variant in NPC2 in a patient with PSP

C. Castro-Fernández, C. García-Sancho, V. Rodríguez-Sureda, R. Martínez-Regueiro, P. Aguiar, P. Blanco-Arias, C. Pérez-Sousa, P. Díaz, C. Domínguez, M. Fernández-Prieto, T. García-Sobrino, J. Cortés, M. Arias, M.J. Sobrido (Santiago de Compostela, Spain)

12:30pm-2:00pm: Bristle hair may point to hereditary spastic paraplegia type SPG35/ FAHN

T.W. Rattay, A.S. Söhn, K.N. Karle, S. Wiethoff, J. Reichbauer, M. Döbler-Neumann, I. Krägeloh-Mann, A. Münchau, B. Wilken, P. Bauer, L. Schöls, R. Schüle (Tübingen, Germany)

12:30pm-2:00pm: Clinical and imaging deterioration of a mild case of Wilson’s disease after chelation therapy

C. Kleoniki, K. Spiridon, T. Cristos, K. Aristidis (Ioannina, Greece)

12:30pm-2:00pm: Clinical profile of Wilson’s disease at Yangon General Hospital, Myanmar

S.M.M. Aye, K.M.P.P. Kyaw, Z. Myint Shwe, O. Ohnmar, Y.M. Aye, W.M. Thit (Yangon, Myanmar)

12:30pm-2:00pm: Deficiency of HGprt in Lesch-Nyhan disease is associated with abnormal dopaminergic neurodevelopment in vivo

J.E. Visser, J.S. Witteveen, N.H.M. van Bakel, G.J.M. Martens, S.M. Kolk (Nijmegen, Netherlands)

12:30pm-2:00pm: Human, fly and cellular models of riboflavin transporter neuronopathy

A. Manole, A. Pandraud, M.M. Reilly, J.E.C. Jepson, H. Houlden (London, United Kingdom)

12:30pm-2:00pm: Intracerebroventricular D-galactose injection provokes motor coordination impairment and cerebellar damage in Wistar rats

A.F. Rodrigues, B.S. Zanotto, H. Biasibetti, P. Pierozan, F. Schmitz, E.F. Sanches, D. Delwing Dal Magro, C.A. Netto, A.T.S. Wyse (Brusque, Brazil)

12:30pm-2:00pm: L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency

N.K. Iwata, H. Shintaku, S. Shibata, K. Takeda, J. Goto (Tokyo, Japan)

12:30pm-2:00pm: Levodopa-responsive hereditary spastic paraplegia, SPG35, due to FA2H mutations in siblings

Y. Xing, J.R. Friedman (La Jolla, CA, USA)

12:30pm-2:00pm: Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress

M. Dulovic, S. Zittel, A. Rakovic, A. Westenberger, S. Biskup, A. Münchau, C. Klein, P. Seibler (Belgrade, Serbia)

12:30pm-2:00pm: Neurodegeneration with brain iron accumulation (NBIA): Two cases with different subtypes and a rare mutation

N. Sozer Topcular, S. Cagirici, A. Bajrami, E. Demir, H. Akçakaya, V. Yayla (Istanbul, Turkey)

12:30pm-2:00pm: Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPi

A.D. Magalhães, L. Correia Guedes, M. Coelho, T. Teodoro, A. Valadas, H. Carvalho, B. Cattoni, J.J. Ferreira (Lisbon, Portugal)

12:30pm-2:00pm: Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

M. Quadri, M. Skorvanek, S. Olgiati, M. Minneboo, J. Graafland, G.J. Breedveld, R. Bonte, Z. Ozgur, K. Schoonderwoerd, F.W. Verheijen, W.F.J. van Ijcken, H. Fen Chien, E. Reis Barbosa, H.C. Chang, S.C. Lai, T.H. Yeh, C.S. Lu, Y.H. Wu-Chou, A.J.A. Kievit, V. Han, Z. Gdovinova, R. Jech, R.M.W. Hofstra, G.J.G. Ruijter, W. Mandemakers, V. Bonifati (Rotterdam, Netherlands)

12:30pm-2:00pm: Same cerebellar atrophy pattern in hyper- and hypokinetic movement disorders due to mitochondrial cytopathy

S.R. Schreglmann, F. Riederer, C. Ganos, G. Kägi, D. Waldvogel, U. Hidding, E. Krasemann, C.R. Baumann, K.P. Bhatia, H.H. Jung, L. Michels (London, United Kingdom)

12:30pm-2:00pm: The French experience of liver transplantation for severe neurological forms of Wilson disease

A. Poujois, R. Sobesky, W. Meissner, E. de Medeiros, C. Vanlemmens, A.S. Brunet, E. Broussolle, J.C. Duclos-Vallée, F. Woimant (Paris, France)

12:30pm-2:00pm: Triple X syndrome: Are tremors part of its phenotype?

X. Garcia, M.E. Mohammad, H. Fernandez, I. Itin (Cleveland, OH, USA)

12:30pm-2:00pm: Two siblings with action myoclonus renal failure syndrome

M. Tábuas-Pereira, J. Durães, J. Tomás, A. Gouveia, C.S. Miranda, M.C. Macário (Coimbra, Portugal)