It is involved in numerous syndromic entities. Spastic paraplegia, transmitted as an X-linked trait, with neurological complications involving the cerebellum, cerebral cortex, and optic nerves. Severe mental retardation is a constant feature. Spastic paraplegia, transmitted as an X-linked trait, with nystagmus, optic atrophy, intellectual handicap, and mild ataxia of the upper limbs. A slowly progressive familial disease, transmitted as an autosomal dominant trait, with lower limb spasticity, gait difficulties, and weakness.
Neurological changes involve the lateral cortical tracts and fasciculus gracilis.
Some patients exhibit ataxia and neurogenic bladder. An uncomplicated form of SPG2 transmitted as an autosomal dominant trait and marked mainly by progressive spasticity of the lower limbs. A syndrome with incomplete penetrance and variable expresivity with progressive weakness and spasticity of the lower limbs, epilepsy, and mental retardation. A complicated form, transmitted as an autosomal dominant trait, with variable spasticity of the lower limbs, sensorineural deafness, delayed mental development, and progressive nephropathy. Spastic paraplegia associated with extrapyramidal signs and transmitted as an autosomal dominant trait.