Articles tagged "Spasticity: Clinical features"

2016 International Congress
A homozygous loss-of-function mutation in DNAJA3 causes hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V)
T. Kawarai, R. Miyamoto, Y. Kuroda, M. Omoto, M. Ueyama, N. Murakami, T. Furukawa, R. Oki, A. Mori, Y. Osaki, C. Banzrai, H. Nodera, A. Orlacchio, A. Hashiguchi, Y. Higuchi, H. Takashima, T. Kanda, Y. Izumi, Y. Nagai, T. Mitsui, R. Kaji (Tokushima, Japan)
Objective: To identify a genetic cause for hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V). Background: Hereditary spastic paraplegia (HSP) constitutes a…
2016 International Congress
Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
M. Schinwelski, M. Krygier, J. Slawek, M. Zuk, M. Rydzanicz, A. Walczak, P. Stawinski, A. Konkel, M. Sildatke-Bauer, R. Ploski, J. Limon (Gdansk, Poland)
Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…