MDS Virtual Congress 2020 » Genetics (Non-PD)

A Korean first case of Boucher-Neuhäuser syndrome with two novel mutations of PNPLA6 gene

E. Chung, S. Kim (Busan, Republic of Korea)

A novel POLG2 variant leads to disrupted mitochondrial integrity in a family with cerebellar ataxia and progressive ophthalmoplegia

K. Lohmann, M. Borsche, H. Baumann, S. Tunc, E. Knappe, S. Özcakir, J. Trinh, M. Dulovic-Mahlow, N. Brüggemann (Luebeck, Germany)

Atypical alternating hemiplegia of childhood in Korea: A case report

C. Shin, H. Kim, B. Jeon (Daejeon, Republic of Korea)

Clinical and imagiological features in Portuguese patients with SPG7 mutations

I. Antunes Cunha, J. Afonso Ribeiro, A. Morgadinho, J. Lemos, C. Januário (Coimbra, Portugal)

Complicated hereditary spastic paraplegia like presentation of homozygous c.2222G>A mutation in PLA2G6

V. Holla, A. Stezin, S. Prasad, S. Chaithra, K. Neeraja, N. Kamble, P. Pal, R. Yadav (Bengaluru, India)

Hereditary spastic paraparesis plus syndrome associated to a novel FARS2 gene mutation

C. González Robles, M. Novillo, J.M Mesa Latorre, J.L López-Sendón Moreno, A. Jiménez-Escrig, A. Rojo Sebastián (Alcala de Henares, Spain)

Late onset Wilson’s disease with hepatic and neurological manifestations

H.J Kim, D.W Kwack, S.H Kim (Seoul, Republic of Korea)

Movement disorders associated with expansions and intermediate repeats in the C9orf72 gene

C. Estevez-Fraga, F. Magrinelli, A. Latorre, S. Tabrizi, H. Houlden, K. Bhatia (London, United Kingdom)

Movement disorders in a family carrying ATP7A variant

G. Buongarzone, B. Minafra, E. Errichiello, S. Gana, A. Asaro, I. Canavero, E. Tartara, M. Paoletti, R. Zangaglia, C. Cereda, C. Pacchetti, E.M Valente (Pavia, Italy)

Movement Disorders in the Plain People

Z. Ammous (Topeka, IN, USA)

Primary familial brain calcifications in Sweden

M. Paucar, E. Gilland, H. Almqvist, M. Engvall, I. Björkhem, D. Nilsson, P. Svenningsson (Stockholm, Sweden)

Prion disease with 8 octapeptide repeat insertional mutation presenting with HDL1 phenotype

C. Cooper, D. Hall, B. Fogel, H. Lee, U. Diseases Network (Chicago, IL, USA)

The role of polymorphic allelic variants of the VEGFα and TGFβ gene in the development of cerebrovascular disorders in patients with metabolic syndrome

S.h Shokhimardonov, S.h Xudjanov, F. Shermuhammedova, S.h Kuzieva (Tashkent, Uzbekistan)