PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Muscle Rigidity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.120 GeneticVariation phenotype CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.120 GeneticVariation phenotype BEFREE Dementia developed in 3 family members in this kindred at a mean age of 27 years; the proband had myoclonus, seizures, and rigidity, similar to findings in previously described kindreds with PSEN1 mutations. 16344340 2005
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.120 GeneticVariation phenotype BEFREE We reported previously a variant form of FAD, due to deletion of exon 9 of PSEN1, with spastic paralysis and rigidity. 11920851 2002