spastic paraplegia, autosomal dominant, type 4

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spastic paraplegia, autosomal dominant, type 4

The 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.

Molecular pathology
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.
References in periodicals archive ?
Agreement intra e inter-judges in terms of intelligibility judgment Subgroups Kappa P-value MNP1, MNP2, MNP3 0.160 P<0.001 FNP1, FNP2, FNP3 0.293 P<0.001 MSP1, MSP2, MSP3 0.023 P= 0.321 FSP1, FSP2, FSP3 0.315 P<0.001 MNP MSP 0.062 P=0.238 FNP FSP 0.532 P<0.001 MNP FNP 0.552 P<0.001 MSPFSP 0.089 P=0.225 Legend: MNP--Male non-professionals; FNP--Female non-professionals; MSP--Male Speech Pathologists; FSP--Female Speech Pathologists.
At the FSW4, FSP2 and FSP3, At the FSW4 , FSP2, and FSP3, the temperature is increased in a level to soften the metal and increased the bending stiffness of the joint.