cerebral palsy—spastic quadriplegic—1

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cerebral palsy—spastic quadriplegic—12016-11-25T07:42:30+00:00

cerebral palsy—spastic quadriplegic—1


Definition A non-progressive autosomal recessive disorder (OMIM:603513) of movement and posture due to developmental CNS defects. It is characterised by symmetrical, non-progressive spasticity, variably accompanied by developmental delay, mental retardation and epilepsy.

Molecular pathology Defects of GAD1, which encodes a glutamic acid decarboxylase that catalyses GABA production, cause cerebral palsy—spastic quadriplegic type 1  

References http://www.uniprot.org/uniprot/Q99259


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