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Table 1 Comparison of G209R, G209E, G209V and G209A

From: Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction

Mutation Gly209Arg Gly209Glu Gly209Val Gly209Ala
Age of onset 46 – 53 years unknown 30 - 48 years 54 years
Age of death unknown unknown unknown Surviving
Family history positive Unknown (detected in 1 patient) positive Unknown (since her mother had undiagnosed early-onset dementia)
Clinical phenotype Rapid progressive dementia characterized by memory impairment, amnestic aphasia, disorientation and personality change, but lacking parietal focal symptoms such as apraxia or agnosia unknown AD with myoclonus, seizures, language loss, aphasia Mild cognitive impairment with depression, followed by progressive deterioration in verbal and visual memory
Reference Sugiyama et al. 1999 [11] Rogaeva et al. 2001 [14] Poorkaj et al. 1998 [12] Larner et al. 2006 [13]