Autosomal recessive pure hereditary spastic paraplegia due to mutations in Spatacsin gene (Q99410)

An autosomal recessive 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 SPG11 which encodes Spatacsin. Other common clinical features include learning difficulties and cognitive impairment, peripheral neuropathy and pseudobulbar signs. Less common features include cerebellar dysfunction, retinal degeneration and parkinsonism. Onset is usually between infancy and adolescence. Brain imaging may demonstrate thinning of the corpus callosum and cortical atrophy. The diagnosis may be aided by genetic testing.