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Abstracts from the International Congress of Parkinson’s and Movement Disorders.

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21st International Congress » Genetics (Non-PD)

Date: Tuesday, June 6, 2017

Time: 1:45pm-3:15pm

Location: Exhibit Hall C

Meeting: 21st International Congress

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)

« View all sessions from the 21st International Congress.

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