Article
[From gene to disease; spastin and hereditary spastic paraparesis].
Nederlands tijdschrift voor geneeskunde - 24 Jan 2004
Bruyn R P, Frants R R
Abstract excerpt
Hereditary spastic paraparesis (HSP) belongs to a group of genetically and clinically heterogeneous disorders characterised by progressive spasticity of the legs and hyperreflexia. A further clinical distinction is drawn between pure and complicated HSP depending on the presence of other neurological and non-neurological signs. HSP may be inherited either as autosomal dominant, recessive, or X-linked. Twenty-two...
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