Phenotype of AD-HSP due to mutations in the SPAST gene : Comparison with AD-HSP without mutations

"Pure" autosomal dominant hereditary spastic paraparesis (AD-HSP) is clinically and genetically heterogeneous. There are at least seven genetic loci with varying ages at onset and disability. The SPAST gene at the SPG4 locus on chromosome 2p is the major disease gene for AD-HSP. To investi...

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