We describe a family with pure X-linked hereditary spastic paraplegia (HSP) and report linkage to X-chromosome DNA probes. A 6-generation pedigree (K313) with 12 affected males is presented.
Hereditary spastic paraplegia, or HSP, is a group of movement disorders that cause progressive weakness and stiffness in the ...
In particular we are investigating the involvement of axonal transport in diseases including motor neurone disease (MND) and hereditary spastic paraplegia (HSP). In addition we are developing and ...