Concurrent Sessions
Sunday, May 7, 2006, 15.00 - 16.30 hrs - Room N-N1-O-O1
C03. Neurogenetics
C16. Amisyn, SCAMP5, CLIC4 and
NBEA are candidate genes for autism and suggest a role for neuron vesicle
trafficking in the pathogenesis of autism.
D. Castermans1, K. Freson2,
J. Vermeesch3, C. Schrander-Stumpel4, J. Fryns3,
W. Van de Ven5, C. Van Geet2, J. Steyaert3,4,
J. Creemers1, K. Devriendt3;
1Laboratory for Molecular Cell Biology, Department for Human Genetics,
Leuven, Belgium, 2Center for Molecular and Vascular Biology,
Department of Pathology, Leuven, Belgium, 3Division of Clinical
Genetics, Center for Human Genetics, Leuven, Belgium, 4Center for
Clinical Genetics, Maastricht, The Netherlands, 5Laboratory of
Molecular Oncology, Department of Human Genetics, Leuven, Belgium.
C17. Disrupted function and axonal distribution of mutant
tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
A. Jordanova1,2, J. Irobi2,
F. P. Thomas3, P. Van Dijck4, K. Meerschaert5,
M. Dewil6, I. Dierick2, A. Jacobs2, E. De
Vriendt2, V. Guergueltcheva1, C. V. Rao3, I.
Tournev1, F. A. Gondim3, M. D’Hooghe7, V. Van
Gerwen2, P. Callaerts8, L. Van Den Bosch6, J.
P. Timmermans9, W. Robberecht6, J. Gettemans5,
J. M. Thevelein10, P. De Jonghe2, I. Kremensky1,
V. Timmerman2;
1Sofia Medical University, Sofia, Bulgaria, 2Molecular
Genetics Department (VIB8), Antwerpen, Belgium, 3Saint Louis
University, Saint Louis, MA, United States, 4Department of Molecular
Microbiology and Immunology (VIB10), Leuven, Belgium, 5Department of
Medical Protein Research (VIB9), Gent, Belgium, 6Department of
Experimental Neurology, Leuven, Belgium, 7Sint-Jan Hospital, Brugge,
Belgium, 8Laboratory of Developmental Genetics (VIB-PRJ8), Leuven,
Belgium, 9University of Antwerp, Antwerpen, Belgium, 10Department
of Molecular Microbiology (VIB10), Leuven, Belgium.
C18. Distinguishing neurodegenerative disorders with tau
pathology using mRNA expression microarrays
I. F. Bronner1,2, Z. Bochdanovits1,2,
P. Rizzu1,2, J. C. van Swieten3, R. Ravid4, W.
Kamphorst5, P. Heutink1,2;
1VU University Medical Center, Department of Human genetics, Section
Medical Genomics, Amsterdam, The Netherlands, 2Center for
Neurogenomics and Cognitive Research, VU University Medical Center and VU
University, Amsterdam, The Netherlands, 3Department of Neurology,
Erasmus Medical Center, Rotterdam, The Netherlands, 4The Netherlands
Brain Bank, Amsterdam, The Netherlands, 5Department of Pathology, VU
University Medical Center, Amsterdam, The Netherlands.
C19. A mutation in the nup62 gene causes Infantile
Bilateral Striatal Necrosis
L. Basel-Vanagaite1,2, L. Muncher2,
R. Straussberg3,2, M. Pasmanik-Chor4, M. Yahav2,
L. Rainshtein5, C. A. Walsh6, N. Magal2,5, E.
Taub7, V. Drasinover5, G. Rechavi8, A. J. Simon8,
M. Shohat7,2;
1Schneider Children's Medical Center of Israel and Rabin Medical
Center, Petah Tikva, Israel, 2Sackler Faculty of Medicine, Tel Aviv
University, Tel Aviv, Israel, 3Schneider Children's Medical Center of
Israel, Petah Tikva, Israel, 4Faculty of Life Sciences, Tel-Aviv
University, Tel-Aviv, Israel, 5Felsenstein Medical Research Center, Petah Tikva, Israel, 6Harvard Medical School, Boston, MA, United
States, 7Rabin Medical Center, Petah Tikva, Israel, 8The
Chaim Sheba Medical Center, Tel Hashomer, Israel.
C20. Impaired ganglioside synthesis involved with
pathogenic mechanism in a familial form of multiple sclerosis
E. Vitale1,2, C. Yildirim – Toruner1,
S. Husain1, G. Toruner1, M. Schwalb1, S. Cook1;
1UMDNJ New Jersey Medical School, Newark, NJ, United States, 2CNR
Institute of Cybernetics, Pozzuoli (NA), Italy.
C21. Transcriptional deregulation by the mutant Huntington
Disease (HD) protein: implications for pathogenesis
S. Y. Cong1,2, B. A. Pepers1,3,
R. A. C. Roos3, G. J. B. van Ommen1,4, J. C. Dorsman1,4,5;
1Center of Human and Clinical Genetics, Leiden University Medical
Center, Leiden, The Netherlands, 2Department of Neurology, The second
affiliated hospital of China Medical University, Shenyang, China, 3Department
of Neurology, Leiden University Medical Center, Leiden, The Netherlands, 4Center
for Medical System Biology, Leiden/Amsterdam/Rotterdam, The Netherlands, 5VU
University Medical Center, Amsterdam, The Netherlands.