spastic paraplegia, autosomal dominant, type 12
spastic paraplegia, autosomal dominant, type 12
A complex autosomal dominant form (OMIM:604805) of spastic paraplegia, a neurodegenerative spinal cord disease characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs; initial symptoms include difficulty with balance, weakness and stiffness in legs, muscle spasms, and dragging of toes when walking. Some forms are characterised by urinary incontinence or weakness and stiffness in other parts of the body; type 12 is characterised by onset between age 25–40, variably accompanied by cerebellar syndrome, supranuclear palsy and cognitive impairment, with disturbance of attention and executive functionsMolecular pathology
Caused by defects of RTN2, which encodes reticulon 2, a protein required for tubular endoplasmic reticulum and thought to play a role in intracellular vesicular transport.