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] | Â |