Source:http://linkedlifedata.com/resource/umls/id/C0037772
JABL: Progressive spasticity of the lower limbs with exaggerated deep tendon reflexes and Babinski sign classified as pure (with spasticity as the only manifestation) and complicated (with brain abnormalities and mental retardation) forms which are further subdivided into several categories according to their genetic and clinical characteristics. It is involved in numerous syndromic entities. spastic paraplegia 1 (SPG1) (OMIM 312900) Synonym: X-linked complicated spastic paraplegia (SPPX1) Spastic paraplegia, transmitted as an X-linked trait, with neurological complications involving the cerebellum, cerebral cortex, and optic nerves. Severe mental retardation is a constant feature. spastic paraplegia 2 (SPG2) (OMIM 312920) Synonyms: Goldblatt syndrome X-linked uncomplicated spastic paraplegia (SPPX2) Spastic paraplegia, transmitted as an X-linked trait, with nystagmus, optic atrophy, intellectual handicap, and mild ataxia of the upper limbs. spastic paraplegia 3 (SPG3) (OMIM 182600) Synonyms: Strumpell diseas