Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family
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DOI: 10.1016/j.jns.2016.11.032
Abstract: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder, which is characterized by the spasticity of the lower limbs due to pyramidal tract dysfunction. More than 70 different genetic HSP forms have… read more here.
Keywords: spinocerebellar ataxia; kif1a mutation; bean tk2; paraplegia ... See more keywords