2018 International Congress » Genetics (Non-PD)

1:45pm-3:15pm

A new distinct spastic ataxia with hypomyelination: Clinical, neuroimaging and molecular expression of NKX6-2 mutations

V. Chelban, N. Kaya, M. Alsagob, S. Efthymiou, J. Vandrovcova, D. Lynch, K. Kloth, A. Chirita-Emandi, F. Alkuraya, N. Wood, H. Houlden (London, United Kingdom)

1:45pm-3:15pm

A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer’s disease

A. Orlacchio, C. Montecchiani, R. Rumore, F. Gaudiello, M. Miele, C. Caltagirone, T. Kawarai (Rome, Italy)

1:45pm-3:15pm

A novel mutation in VRK1 associated with distal spinal muscular atrophy

L. Li, L. Wang, Z. Lu, X. Sun, X. Suo, J. Li, J. Peng, R. Peng (Chengdu, China)

1:45pm-3:15pm

Analysis of secondary causes in Fahr’s syndrome and whole exome sequencing in Fahr disease from Northeast China and South Korean

G. Shen, B. Jeon, G. Nan, S. Park (Changchun, China)

1:45pm-3:15pm

Atypical presentation of PANK2 mutation: A case report

M. Sousa, R. Varela, A. Morgadinho, C. Januário (Coimbra, Portugal)

1:45pm-3:15pm

Autosomal dominant PANK2 mutation resulting in cervical dystonia with iron accumulation in the basal ganglia

M. van_der_Weijden, R. Lambrechts, E. Nibbeling, J. Groen, T. de Koning, O.. Sibon, M. Tijssen, D. Verbeek (Groningen, Netherlands)

1:45pm-3:15pm

Clinical and genetic heterogeneity in portuguese patients with Hereditary Spastic Paraplegia

I. Cunha, A. Brás, J. Ribeiro, C. Januário (Coimbra, Portugal)

1:45pm-3:15pm

Compound-heterozygous mutations in VPS13D are a novel cause of spastic ataxia and lead to mitochondrial dysfunction

M. Dulovic, N. Brüggemann, J. Trinh, A. Münchau, C. Klein, K. Lohmann (Luebeck, Germany)

1:45pm-3:15pm

Dissecting molecular signatures of X-linked dystonia-parkinsonism (XDP) through integrative genomics studies

A. Domingo, S. Sharma, A. Aneichyk, W. Hendriks, Y. Yadav, D. Shin, D. Gao, C. Vaine, B. Currall, N. Kulkarni, T. Multhaupt-Buell, E. Penney, M. Dy, C. Go, RD. Jamora, R. Rosales, M. Ang, U. Müller, C. Klein, P. Acuña, X. Breakefield, L. Ozelius, DC. Bragg, M. Talkowski (Boston, MA, USA)

1:45pm-3:15pm

Epigenetic silencing in the humanized mouse model of Friedreich ataxia

L. Rodden, K. Gilliam, S. Bidichandani (Oklahoma City, OK, USA)

1:45pm-3:15pm

Expanding the clinical phenotype of autosomal recessive spinocerebellar ataxia with Adult onset; a collection of case series

A. Persaud, O. Oguh (Jacksonville, FL, USA)

1:45pm-3:15pm

Familial SCA2-parkinsonism presented as intractable oromandibular dystonia

K. Woo, B. Jeon, J. Lee (Seoul, Republic of Korea)

1:45pm-3:15pm

Genetic analysis of Wilson’s disease in Taiwan

T.H. Yeh, C.S. Lu, C.C. Huang, S.C. Lai (Taipei, Taiwan)

1:45pm-3:15pm

Hereditary spastic paraplegia presenting as limb dystonia with a novel SPG7 mutation

S. Schaefer, J. Moeller, S. Tinaz (New Haven, CT, USA)

1:45pm-3:15pm

Inherited neuromyotonia associated with a dominant-negative KCNQ2 mutation

Y.T. Hsu, W.D. Lin, Y.W. Yang, D.C. Wu, C.H. Tsai (Taichung, Taiwan)

1:45pm-3:15pm

Intronic pentanucleotide TTTCA repeat insertion in SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

Y. Chen, ZD. Cen, XS. Zheng, F. Xie, XD. Yang, XJ. Lu, ZY. Ouyang, HW. Wu, S. Chen, HM. Yin, X. Qiu, S. Wang, MP. Ding, YL. Tang, C. Jiao, CY. Liu, JF. Xiao, W. Luo (Hangzhou, China)

1:45pm-3:15pm

Novel missense variants in KMT2B in segmental dystonia

J. Ma, X.H. Wan (Beijing, China)

1:45pm-3:15pm

Perry syndrome: Proposal of international diagnostic criteria and a new disease concept

T. Mishima, S. Fujioka, H. Tomiyama, I. Yabe, R. Kurisaki, N. Fujii, R. Neshige, O. Ross, M. Farrer, D. Dickson, Z. Wszolek, N. Hattori, Y. Tsuboi (Fukuoka, Japan)

1:45pm-3:15pm

Studying genes involved in abnormalities of the basal ganglia and iron homeostasis using gene co-expression network analysis

M. van der Weijden, M. Tijssen, D. Verbeek (Groningen, Netherlands)

1:45pm-3:15pm

Targeted Next Generation Sequencing in Diagnosis of Dystonia Patients

J. Ma, X.H. Wan (Beijing, China)

1:45pm-3:15pm

The role of Genes and Gene x Environment Determinants of Stress in the pathogenesis of Functional Neurological Disorders

P. Spagnolo, C. Maurer, C. Hodgkinson, D. Goldman (Bethesda, MD, USA)