Table 2.

CSF1R TK and TK flanking region mutation carrier description

Patient	CSF1R mutation	APOE	AO-AD	Family history of dementia	Disease duration	First symptom	Behavioral symptom	Motor symptom	Vascular risk factors	Misdiagnosis	CT/MRI	Neuropath
Patient D	p.D565N	34	−92		NA	NA	NA	NA	NA	NA	NA	NA
Patient E	p.Q691H	34	82–89	Negative	7y, rapid deterioration during the last 7 months	Memory problems		No			Symmetric patchy periventricular hyperintensities, mainly pronounced in the frontal lobes
Patient F	p.H703Y	34	79–82	Negative	3y	Memory problems	Irritability and anxiety	Intermittent mild rigidity, tremor and bradykinesia, mild left hemiparesis	Bilateral severe carotid artery stenosis, vertebrobasilar TIA	Vascular dementia	Hippocampal and temporal lobe atrophies, subcortical microbleeds (right basal ganglia), and small ischemic stroke (left pons), lacunar infarct right parietal lobe, centrum semiovale bilateral lesions
Patient H	p.L868R	44	64–75	4/4 siblings diagnosed with dementia	11y	Short-term memory problems and dysphasia			Stroke at 65y	Vascular dementia	Severe microbleeding	Extensive Aβ and tau deposition (Braak VI and CERAD C), amyloid angiopathy and focal TDP-43
Patient I	p.G957R	NA	49–57	Negative	8y	Language problem	Aggression and paranoia later in the course of the disease	No		PNFA		Braak VI and CERAD C

Key: Aβ, amyloid beta; AO-AD, age at onset-age at death; symp., symptoms; CT/MRI, computed tomography/magnetic resonance imaging; NA, not available; TIA, transient ischemic attack; PNFA, progressive nonfluent aphasia.