spastic paraplegia, autosomal dominant, type 4(redirected from FSP2)
spastic paraplegia, autosomal dominant, type 4The most common autosomal dominant form (OMIM:182601) 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 4 is variably accompanied by cerebellar and supranuclear changes.
Caused by defects of SPAST, which encodes a protein involved with ATP-dependent microtubule severing and membrane trafficking from the endoplasmic reticulum to the Golgi, and which may play a role in axon growth and axonal branch formation.
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