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

BMC Neurology

Table 1 Comparison of G209R, G209E, G209V and G209A

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]

ISSN: 1471-2377