Table 2.

Comparisons of the distinct characteristics between the patients with PSEN1, L226F, and L226R

Case	L226F (Zekanowski et al [2006];25 Gomez-Tortosa et al [2010];27 this case)	L226R (Coleman et al [2004]28)
Age of onset	33–37 years	<49 years
Symptoms	Early behavioral symptom; cognitive decline; nonfluent aphasia progress to mutism; subsequent Parkinsonism; rapid progress to death (5 years, 7 years, and 9 years of survival after onset)	Motor and speech developmental delay; 12 month- to 2-year history of substance abuse; diagnosed as encephalopathy at the of age 33 years; diagnosed as severe AD at 49 years
Autopsy	Compatible with AD	Compatible with AD

Abbreviation: AD, Alzheimer’s disease.