PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Limb apraxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022574
Disease: Limb apraxia
Limb apraxia 		0.010 GeneticVariation disease BEFREE The aim of this article is to report on an early-onset AD patient associated with the rare pathogenic variant PSEN1 (Leu85Pro) presenting as a possible corticobasal syndrome with asymmetric limb apraxia, parkinsonian signs, and myoclonus. 31282415 2019