Abstract
The hereditary spastic paraplegias (HSPs) comprise a group of genetically heterogeneous disorders in which the predominant clinical feature is gait disturbance due to progressive lower-limb spasticity and weakness with little or no involvement of the upper limbs. The degree of severity and manner of progression are often quite variable between different genetic types of HSP, between different families with the same genetic type of HSP, and between affected subjects from the same family who share exactly the same HSP gene mutation. Presently, genetic loci have been identified for 10 autosomal dominant, 8 autosomal recessive, and 3 X-linked types of HSP. Ten HSP genes have been discovered. The SPG4 HSP is the single most common cause of dominantly inherited HSP, representing approximately 40% of such cases. Mutations in a novel gene designated “SPG4“ are the cause of this disorder and Spastin (the SPG4 protein) is present exclusively in neurons.
Published Version
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