Table 1.

Main features of all the patients described in the literature with TREM2 mutations presenting without an osseous phenotype

	Chouery et al. (2008)			Guerreiro et al. (2013b)			Giraldo et al. (2013)				Present study
Number of families	1			3			1				1
Geographic origin	Lebanon			Turkey			Colombia				Turkey
	Sibling 1	Sibling 2	Sibling 3	Patient 1	Patient 2	Patient 3	Sibling 1		Sibling 2	Sibling 3 (index)	Sibling 1	Sibling 2 (index)
Gender	F	F	M	M	M	M	M		F	F	F	F
Diagnosis	Early-onset dementia			bvFTD like			bvFTD				bvFTD like
Age at onset (y)	30–35			20	Late 30s	33	50	45		47	32	36
Age at death (y)	50	Alive (50)	46	33	Alive (50)	45	Alive (55)	NA		Alive (48)	Alive (40)	Alive (41)
Initial symptoms	Forgetfulness and fatigue			Personality changes with aggressive behavior	Personality changes with aggressive and perseverative behavior	Generalized T-C seizure	Altered social behavior and oropharyngeal tic in 1 sibling				Behavioral changes with nonfluent aphasia	Generalized T-C seizures
Other symptoms	Neuropsychiatric signs UI and impotence			Generalized T-C seizures Cognitive impairment Ophthalmoplegia with bradykinesia and brisk deep tendon reflexes	Cognitive impairment Bradykinesia, apraxia + postural instability	Personality changes with progressive behavioral problems Bradykinesia + mild postural instability Visual hallucinations UI	New onset of substance use Complex partial seizures Severe pan-frontal syndrome and cognitive decline				Generalized T-C seizures Bradykinesia + postural instability UI	Cognitive deterioration + behavioral changes
Brain imaging	Diffuse brain and cortical atrophy in the polar region of the temporal lobes CC thinning Stenosis of the aqueduct of sylvius + arachnoid cyst in the posterior cranial fossa Periventricular leucoaraiosis Relative enlargement of perivascular Virchow-Robin spaces No lenticulopallidal calcifications			Frontal and temporal cortical atrophy CC thinning Diffuse confluent WM abnormalities No calcification of the basal ganglia	Frontal cortical atrophy with marked ventricular enlargement CC thinning Confluent periventricular WM abnormalities	Cortical atrophy predominantly affecting the frontal loes Diffuse confluent WM lesions No calcification of the basal ganglia	Asymmetric bifrontal atrophy				Frontoparietal and temporal cortical atrophy Marked CC thinning Diffuse periventricular and frontal WM lesions No calcification of the basal ganglia	Global cortical atrophy mainly in frontal, lateral temporal and parietal cortices and caudate nuclei CC thinning Enlargement of ventricular system Hyperintensity in periventricular, frontal and occipitoparietal WM Bilateral calcification in globus pallidus
Family history	No history of dementia in the parents			History of dementia, psychotic disorders, and epilepsy in the family	One brother, paternal uncle, and maternal grandfather presented late-onset memory impairment	No family history of cognitive or behavioral impairment	One paternal uncle and brother had similar symptoms				No family history of cognitive or behavioral impairment
TREM2 mutation	c.40+3delAGG			c.97C>T; p.Q33X	c.197C>T; p.T66M	c.113A>G; p.Y38C	c.594G>A; p.W198X				c.[113A>G];[257A>T]; p.[(Y38C)];[(D86V)]

Key: bvFTD, behavioral variant frontotemporal dementia; CC, corpus callosum; F, female; M, male; NA, not applicable; T-C, tonic-clonic; UI, urinary incontinence; WM, white matter.