spastic paraplegia 8 autosomal dominant

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spastic paraplegia 8 autosomal dominant2016-11-28T04:25:04+00:00

spastic paraplegia 8 autosomal dominant

NEUROLOGY

Definition A genetic form (OMIM:603563) of spastic paraplegia.*

*A neurodegenerative disorder characterised by slow, gradual, progressive weakness and spasticity of the lower limbs. The rate of progression and severity of symptoms are quite variable. 

Clinical findings Initial symptoms include loss of balance, weakness and stiffness of legs, muscle spasms, and toe dragging, variably accompanied by bladder symptoms–e.g., incontinence. The weakness and stiffness may spread elsewhere in the body.

Molecular pathology Defects of KIAA0196, which encodes strumpellin, a protein highly expressed in skeletal muscle, and a component of the WASH complex, which plays a role in inducing actin polymerisation and endosome sorting, cause spastic paraplegia 8 autosomal dominant. 

Best written form spastic paraplegia 8—autosomal dominant

References http://www.uniprot.org/uniprot/Q12768

http://www.omim.org/entry/603563 

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