Table 1. Colombian mutations (besides Presenilin 1 E280A, Presenilin 1 I416T, and APOE3ch).

Mutation	State or department	Phenotype	Age of onset (years)
APP Gly708	Cundinamarca	Silent mutation, but the proband had sporadic Alzheimer’s disease	71
PSEN1 Val94Met	Cundinamarca	Sporadic Alzheimer’s disease	53
PSEN1 Ile143Thr	Cundinamarca	Autosomal dominant Alzheimer’s disease	30
PSEN 1 Glu318Gly	Cundinamarca	Sporadic and familial cases (the mutation is a risk modifier)	65.8 (49-86)
PSEN1 Pro117Ala	Valle del Cauca	Autosomal dominant Alzheimer’s disease	Fourth decade of life
PSEN2 Pro129	Cundinamarca	Silent mutation, but the proband had autosomal dominant Alzheimer’s disease	62
PSEN2 Ser236	Cundinamarca	Silent mutation, but the probands had sporadic Alzheimer’s disease	83.2 (78-88)
TREM2 Trp198X	Antioquia	PLOSL and early-onset dementia (autosomal recessive)	FTD-like syndrome, at 47

PSEN1: Presenilin 1; PSEN2: Presenilin 2; APP: amyloid precursor protein; PLOSL: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; TREM2: triggering receptor expressed on myeloid cells 2; FTD: frontotemporal dementia.