spastic paraplegia 55—autosomal recessive

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spastic paraplegia 55—autosomal recessive2016-11-28T04:23:00+00:00

spastic paraplegia 55—autosomal recessive

NEUROLOGY

A genetic form (OMIM:615035) of spastic paraplegia*

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

Initial symptoms Imbalance, weakness and stiffness of legs, muscle spasms, and toe dragging when walking.

Later symptoms Spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal changes, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, extraneurological manifestations.

Molecular pathology Defects of C12orf65, which encodes a mitochondrial matrix protein thought to contribute to peptide chain termination in the mitochondrial translation machinery, cause spastic paraplegia 55—autosomal recessive. 

References http://www.uniprot.org/uniprot/Q9H3J6

http://www.omim.org/entry/615035 

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