Condition: Progressive spastic paraparesis


rs778361520 in ADGRB2 gene and Progressive spastic paraparesis PMID 28891236 2017 A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms.

rs312262717 in SPG11 gene and Progressive spastic paraparesis PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.