PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Muscle Spasticity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.020 GeneticVariation phenotype BEFREE The objective is to describe clinical and neuropathologic features of a family with a PSEN1 mutation that has been reported previously, without autopsy confirmation, in a single Greek family whose affected members presented with memory loss in their 30s, as well as variable limb spasticity and seizures. 18580586 2008
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.020 GeneticVariation phenotype LHGDN A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis. 17507029 2007