21st International Congress » Genetics (Non-PD)

1:45pm-3:15pm

A Swedish family with Paroxysmal Kinesigenic Dyskinesia due to p.Arg217Profs*8 truncation in the proline-rich transmembrane protein 2 gene

P. Tsitsi, M. Paucar Arce, P. Svenningsson (Stockholm,, Sweden)

1:45pm-3:15pm

Association analysis of single nucleotide polymorphisms near the DYT3 locus to dystonic symptoms in X-linked dystonia-parkinsonism

G. Saranza, D. Sumalapao, A. Domingo, P. Pasco, R.D. Jamora, L. Lee, A. Westenberger, C. Klein (Manila, Philippines)

1:45pm-3:15pm

Ataxia and increased cerebrospinal fluid phosphate associated with a mutation in the SLC20A2 gene

M. Paucar, H. Almqvist, V. Jelic, G. Hagman, G. Jörneskog, S. Holmin, I. Björkhem, P. Svenningsson (Stockholm, Sweden)

1:45pm-3:15pm

C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with MPAN

M. Quadri, S. Olgiati, O. Doğu, Z. Tufekcioglu, Y. Diler, E. Saka, M. Gultekin, H. Kaleagasi, D. Kuipers, J. Graafland, G. Breedveld, R. Sürmeli, G. Sünter, T. Doğan, A.D. Yalçın, B. Bilgiç, B. Elibol, M. Emre, H. Hanagasi, V. Bonifati (Rotterdam, Netherlands)

1:45pm-3:15pm

Characterization of GNB1 mutations as a cause of global developmental delay in combination with dystonia, ataxia, or chorea in children

H. Baumann, I. Masuho, D. Patil, S. Steinruecke, E. Hebert, V. Dobricic, I. Huening, G. Gillessen-Kaesbach, A. Westenberger, D. Savic-Pavicevic, A. Muenchau, C. Klein, A. Rolfs, K. Martemyanov, K. Lohmann (Luebeck, Germany)

1:45pm-3:15pm

Clinical and genetic analysis of ataxic patients with CACNA1A mutations in Taiwan

P.-Y. Fong, S.-C. Lai, T.-H. Yeh, C.-S. Lu (Taoyuan City, Taiwan)

1:45pm-3:15pm

Fragile X Gray Zone Alleles are associated with Higher Global Motor Function in an Elderly Community Population

D. Hall, A. Ali, D. Bennett, B. Ouyang, A. Buchman, L. Zhou, E. Berry-Kravis (Chicago, IL, USA)

1:45pm-3:15pm

Genetic and Clinical Analysis of Cerebral Calcifications

V. Chelban, R. Kaiyrzhanov, H. Houlden (London, United Kingdom)

1:45pm-3:15pm

Glucocerebrosidase mutations in idiopathic REM sleep disorder

K. Beyer, M. Serradell, J. Santamaria, C. Gaig, R. Alvarez, A. Iranzo (Badalona, Spain)

1:45pm-3:15pm

Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability

T. Kawarai, R. Miyamoto, H. Mure, R. Morigaki, R. Oki, A. Orlacchio, R. Koichihara, E. Nakagawa, T. Sakamoto, Y. Izumi, S. Goto, R. Kaji (Tokushima, Japan)

1:45pm-3:15pm

Hereditary spastic paraplegia type 31: a novel splice site donor mutation and intra-familial phenotypic variability

M. Kamada, T. Kawarai, R. Miyamoto, Y. Tojima, A. Orlacchio, R. Kaji (Kita-gun, Japan)

1:45pm-3:15pm

Novel TUBB4A variants in idiopathic dystonia

S. Camargos, C. Dos Santos, F. Silva Junior, E. Barbosa, S.M. Azevedo Silva, V. Borges, J.C. Limongi, M.S. Rocha, H. Ferraz, F. Cardoso, P. Carvalho Aguiar (Belo Horizonte, Brazil)

1:45pm-3:15pm

Reviewing the Clinical and Mutational Spectrum of SLC20A2 Mutations in Primary Familial Brain Calcification (PFBC) for MDSGene

A. Balck, S. Schaake, C. Marras, C. Lill, A. Westenberger, C. Klein (Luebeck, Germany)

1:45pm-3:15pm

Spanish Primary Familial Brain Calcification caused by SLC20A2 mutation

N. Caballol, E. Peral, M. Balague, E. Moral, L. Vila, G. Celma, L. Vives, I. Royo, A. Ferran, A. Torrents, E. Gean, A. Ávila (Sant Joan Despí, Spain)

1:45pm-3:15pm

Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7

D. Hall, N. Stong, N. Lippa, M. Pitman, S. Pullman, O. Levy (New York, NY, USA)

1:45pm-3:15pm

Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability

A. Orlacchio, C. Montecchiani, R. Miyamoto, M. Mearini, L. D'Onofrio, M. Miele, F. Gaudiello, Y. Izumi, C. Caltagirone, R. Kaji, T. Kawarai (Rome, Italy)

1:45pm-3:15pm

The predominant parkinsonian phenotype in beta propeller associated neurodegeneration (BPAN)

H. Morales, B. Sanchez-Hernandez, R. Leal-Ortega, M. Rodriguez-Violante, M. Kurian, V. Fung (Westmead, NSW, Australia)

1:45pm-3:15pm

Variations in ANO3 gene in patients with cervical dystonia

V. Han, V. Habalova, L. Klimcakova, J. Zidzik, M. Skorvanek, Z. Gdovinova (Kosice, Slovakia)

1:45pm-3:15pm

Whole Exome Sequencing (WES) identifies a TUBB4A Mutation in two Saudi siblings with hypomyelinating leukodystrophy associated with atrophy of basal ganglia and cerebellum.

Z. Aldaajani, E.-S. Ali (Dhahran, Saudi Arabia)

1:45pm-3:15pm

Whole exome sequencing in essential tremor.

I. Alfradique-Dunham, L. Robak, A. Kaw, O. Fagbongbe, Z. Coban Akdemir, E. Young, J. Lupski, J. Jankovic, J. Shulman (Houston, TX, USA)

1:45pm-3:15pm

Сase of myotonic dystrophy

A. Jusupova (Bishkek, Kyrgyzstan)