Table 2.

Comparison of PLOSL Manifestations in Patients with Mutations in Either TREM2 or TYROBP

	TREM2a
Symptom(s)	I:1	I:2	II:1	III:1	IV:1	IV:2	V:1	TYROBPb
Bones (3rd decade):
Skeletal pain	−	+	+	+	+	+	+	+
Bone cysts or fractures	+	+	+	+	+	+	+	+
CNS (4th–5th decades):
Frontal-lobe syndromec	+	+	+	+	+	+	+	+
Progressive dementia	+	+	+	+	+	+	+	+
Other disturbances of higher cortical functionsd	+	+	−	+	NA	+	+	+
Convulsions	+	−	+	+e	+	NA	−	+
Primitive reflexes	+	−	+	+	NA	NA	+	+
Diffuse slowing in the electroencephalogram	−	+	+	+	−	NA	−	+
Brain atrophyf	+	+	+	+	+	+	+	+

^aRoman numerals denote the nationality of the family: I = Italian; II = U.S.; III = Bolivian; IV = Norwegian; V = Swedish. The arabic numerals denote the individual tested. + = present; − = absent; NA = data not available.

^bData are based on reports by Hakola (1972, 1990), Hakola and Partanen (1983), Hakola and Puranen (1993), and Paloneva et al. (2000, 2001).

^cEuphoria and loss of social inhibitions.

^dAgnostic-aphasic-apraxic symptoms.

^eConvulsions appeared after neurosurgery.

^fConfirmed by autopsy, computed tomography, or, magnetic-resonance imaging.