spastic paraplegia 39—autosomal recessive

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spastic paraplegia 39—autosomal recessive2016-11-28T04:20:50+00:00

spastic paraplegia 39—autosomal recessive

NEUROLOGY

Definition A form (OMIM:612020) of spastic paraplegia* with motor axonopathy of extremities, resulting in progressive wasting of distal upper and lower limb muscles.

*A neurodegenerative disorder characterised by slow, gradual, and highly variable progressive weakness and spasticity of the legs. Early symptoms include imbalance, weakness and stiffness in the legs, muscle spasms, and toe dragging. Some forms are accompanied by bladder symptoms, including incontinence. The weakness and stiffness may spread to other parts of the body.

Molecular pathology Defects of PNPLA6, which encodes an enzyme that functions in neurite outgrowth and neurite process elongation during neuronal differentiation, cause spastic paraplegia 39—autosomal recessive.

Synonym NTE-related motor neuron disorder  

References http://www.uniprot.org/uniprot/Q8IY17

http://www.omim.org/entry/612020

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