Autosomal dominant pure hereditary spastic paraplegia due to mutations in Spastin gene (Q100868)

An autosomal dominant form of hereditary spastic paraplegia characterised by lower limb spasticity pyramidal weakness, hyperreflexia, hypertonic bladder involvement and mild diminution of lower extremity vibration sense associated with mutations in the SPAST1 gene which encodes Spastin. The age of onset varies from childhood to senescence. Clinical progression is insidious. Cognitive impairment, dementia and epilepsy have been reported in some families. A positive family history is often, but not always elicited. The diagnosis may be aided by neuroimaging and genetic testing.