Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy
E López, C Casasnovas, J Giménez… - Journal of the …, 2015 - Elsevier
Abstract Spastic paraplegia type 10 (SPG10) is a rare form of autosomal dominant
hereditary spastic paraplegia (AD-HSP) due to mutations in KIF5A, a gene encoding the
neuronal kinesin heavy-chain involved in axonal transport. KIF5A mutations have been
associated with a wide clinical spectrum, ranging from pure HSP to isolated peripheral nerve
involvement or complicated HSP phenotypes. Most KIF5A mutations are clustered in the
motor domain of the protein that is necessary for microtubule interaction. Here we describe …
hereditary spastic paraplegia (AD-HSP) due to mutations in KIF5A, a gene encoding the
neuronal kinesin heavy-chain involved in axonal transport. KIF5A mutations have been
associated with a wide clinical spectrum, ranging from pure HSP to isolated peripheral nerve
involvement or complicated HSP phenotypes. Most KIF5A mutations are clustered in the
motor domain of the protein that is necessary for microtubule interaction. Here we describe …
