20th International Congress » Genetics (NON-PD)

12:30pm-2:00pm

DYT2 screening in early-onset isolated dystonia in Italy

C. Reale, F. Invernizzi, M. Carecchio, S. Petrucci, G. Zorzi, F. Zibordi, M. Ginevrino, E.M. Valente, N. Nardocci, B. Garavaglia (Milan, Italy)

12:30pm-2:00pm

SLC6A17 mutations are not a common cause of intellectual disability and movement disorders in a large cohort of consanguineous Iranian families

I.A. Meijer, L.J. Azcona, H. Darvish, C. Paisán-Ruiz (New York, NY, USA)

12:30pm-2:00pm

A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4)

A. Orlacchio, M. Mearini, L. Pedace, A. Casella, C. Montecchiani, F. Gaudiello, M. Maurialuisa, R. Massa, C. Caltagirone, R.P. Munhoz, J.L. Pedroso, O.G.P. Barsottini, T. Kawarai (Rome, Italy)

12:30pm-2:00pm

A novel phenotype associated with GRN mutations: Spastic ataxia

I. Faber, J.R.M. Prota, A.R.M. Martinez, B.S. Carvalho, Í.T. Lopes-Cendes, M.C. França Jr (Campinas, Brazil)

12:30pm-2:00pm

A pilot study of whole exome sequencing in progressive supranuclear palsy

K.Y. Mok, A. Tucci, R. de Silva, H.R. Morris, A.B. Singleton, H. Houlden, J. Hardy, IPDGC (London, United Kingdom)

12:30pm-2:00pm

A rare genetic transcriptomopathy syndrome involving TAF1 leading to insights into more common neurologic disorders, including X-linked dystonia-parkinsonism (XDP)

G.J. Lyon (New York, NY, USA)

12:30pm-2:00pm

Alternating hemiplegia of childhood (AHC) as a new presentation of adenylate cyclase 5 (ADCY5)-mutation-associated disease

C. Max, A. Westenberger, N. Brueggemann, A. Domingo, K. Gruetz, H. Pawlack, A. Weissbach, A.A. Kuehn, J. Spiegler, A.E. Lang, J. Sperner, V.S.C. Fung, J. Schallner, G. Gillessen-Kaesbach, A. Muenchau, C. Klein (Lübeck, Germany)

12:30pm-2:00pm

Analysis of MAPT, GRN and C9orf72 genes in progressive supranuclear palsy, corticobasal syndrome and frontotemporal lobar degeneration in Russian population

E.Y. Fedotova, N.Y. Abramycheva, M.S. Stepanova, A.S. Vetchinova, S.N. Illarioshkin (Moscow, Russia)

12:30pm-2:00pm

Clinical and genetic analyses in a cohort of the Taiwanese patients with apparently sporadic pure spastic paraplegia

Y.Y. Chang, Y.F. Chen, T.H. Yeh, Y.R. Wu, C.H. Tsai, Y.C. Chang, W.J. Hwang, H.C. Kuo, C.C. Huang, C.C. Lin, Y.Y. Jian, H.C. Shen, C.S. Lu, M.Y. Lan (Kaohsiung, Taiwan)

12:30pm-2:00pm

Computational analysis of expression profiling data in a neuronal model of X-linked dystonia-parkinsonism

A. Domingo, A. David, G. Karen, L.V. Lee, R. Rosales, R.D. Jamora, R. Shamir, C. Klein, A. Westenberger (Lübeck, Germany)

12:30pm-2:00pm

Correlation among DNA methylation status and LINE-1 expression in rat brain

S. Mukherjee, K. Upadhyaya, D. Sharma (New Delhi, India)

12:30pm-2:00pm

Development of the UK hereditary spastic paraplegia registry: Analysis of SPAST patients reveals high rate of psychiatric comorbidities

V. Chelban, A. Tucci, H. Houlden (Chisinau, Republic of Moldova)

12:30pm-2:00pm

Expanding the spectrum of ATP1A3 related disorders: Continuum from alternating hemiplegia of childhood to rapid-onset dystonia parkinsonism?

S.A. Rodríguez-Quiroga, D. González-Moron, S.A. Vishnopolska, G.L. Vigo, M. Cordoba, N. Medina, T. Arakaki, N.S. Garretto, M.A. Kauffman (Caba, Argentina)

12:30pm-2:00pm

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: Slowly progressive recessive ataxia

M. Renaud, C. Guissart, S. Ferdinandusse, D. Cheillan, O. Lagha-Boukbiza, M. Mallaret, J. Muller, C. Tranchant, M. Anheim, M. Koenig (Strasbourg cedex, France)

12:30pm-2:00pm

Familial SPG17/distal hereditary motor neuropathy type V– Complicated hereditary spastic paraplegia with many faces

T. Musacchio, A.K. Zaum, N. Üceyler, C. Sommer, N. Pfeifroth, K. Reiners, E. Kunstmann, J. Volkmann, S. Rost, S. Klebe (Würzburg, Germany)

12:30pm-2:00pm

Genetic analysis of eighty-seven multiple system atrophy patients

G. Franco, D. Ronchi, I. Trezzi, L. Borellini, F. Del Sorbo, B. Garavaglia, A.E. Elia, G. Ardolino, G. Mora, S. Bonato, N. Bresolin, G.P. Comi, A. Di Fonzo (Milan, Italy)

12:30pm-2:00pm

Hyperekplexia secondary to cumulative novel glycine pathway mutations

S. Nandipati, S. Ceulemans, J. Friedman (La Jolla, CA, USA)

12:30pm-2:00pm

Mutational analysis of GNAL gene in isolated dystonia patients from Spain

P. Gómez-Garre, I. Huertas-Fernández, M.T. Cáceres-Redondo, A. Alonso-Canovas, I. Bernal-Bernal, A. Blanco-Ollero, M. Bonilla-Toribio, J.A. Burguera, M. Carballo, F. Carrillo, M.J. Catalán-Alonso, F. Escamilla-Sevilla, R. Espinosa-Rosso, M.C. Fernández-Moreno, J. García-Caldentey, J.M. García-Moreno, S. Giacometti-Silveira, J. Gutiérrez-García, S. Jesús-Maestre, E. López-Valdés, J.C. Martínez-Castrillo, M.P. Medialdea-Natera, C. Méndez-Lucena, A. Mínguez-Castellanos, M. Moya, J.J. Ochoa-Sepúlveda, T. Ojea, N. Rodríguez, I. Rubio-Agusti, M. Sillero-Sánchez, J. del Val, L. Vargas-González, P. Mir (Seville, Spain)

12:30pm-2:00pm

Myoclonus Dystonia: A report of two rare mutations

A. Mahajan, C. Sidiropoulos (Detroit, MI, USA)

12:30pm-2:00pm

Ninjurin 1 gene D110a single nucleotide polymorphism as a genetic marker for nerve damage leprosy patients from South India

A. Sundaramoorthy, S. Keshavarao, A. Valsala Gopalakrishnan (Coimbatore, India)

12:30pm-2:00pm

Novel THAP1 missense mutation leading to focal and segmental dystonia

D. Crosiers, C. Van Broeckhoven, P. Cras (Edegem, Belgium)

12:30pm-2:00pm

Paediatric and adult-onset parkinsonism in Chediak-Higashi disease: A new family

M. Carecchio, E. Salsano, A. Legati, C. Lamperti, E. Corsini, B. Garavaglia, D. Pareyson, D. Ghezzi (Milan, Italy)

12:30pm-2:00pm

Phenotype and genotype variability of CACNA1A in a cohort of ataxia in Taiwan

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

12:30pm-2:00pm

Primary progressive aphasia and frontotemporal dementia in an Irish-American family due to a novel progranulin mutation

D.A. Olszewska, A. McCarthy, E.D. Huey, I. Delon, G. Pope, A. Blanco-Campal, T. Lynch (Dublin, Ireland)

12:30pm-2:00pm

TAF1 and its isoforms is underexpressed in different endogenous models of X-linked dystonia-parkinsonism

A. Domingo, K. Grütz, P. Seibler, P. Capetian, L.V. Lee, R. Rosales, R.D. Jamora, A. Westenberger, A. Rakovic, C. Klein (Lübeck, Germany)

12:30pm-2:00pm

The distinguishing clinical features of rapid-onset-parkinson-dystonia (RDP) syndrome due to ATP1A3 mutations

I.A. Meijer, R.A. Ortega, D. Raymond, N. Lubarr, V. Shanker, W.L. Severt, S. Bressman, L. Ozelius, R. Saunders-Pullman (New York, NY, USA)

12:30pm-2:00pm

The relevance of movement disorders gene panels in clinical practice: How many patients are we sorting out?

C. Barzaghi, C. Panteghini, M. Carecchio, A. Legati, V. Monti, C. Reale, F. Invernizzi, B. Garavaglia (Milan, Italy)

12:30pm-2:00pm

Two new cases of a novel ovario-leukodystrophy related to AARS2 mutation from Korea

H.J. Yang, J.M. Lee, J.H. Kwon, S.T. Lee, H.J. Kim, B. Jeon (Ulsan, Korea)