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Table 1 Comparison of autosomal-dominant Alzheimer's disease with sporadic Alzheimer's disease

From: Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease

Measure ADAD findings SAD findings
Clinical presentation Episodic (recent) memory and judgment impairment in most; seizures and myoclonus not rare Episodic (recent) memory and judgment impairment in most; seizures rare in early disease, more common in late disease
Atypical presentation Yes - behavioral presentations; spastic paraparesis Yes - behavioral and language presentations; posterior cortical atrophy
Age of onset < 60 years for most, can be as early as mid-20s; > 60 years rarely reported > 60 years for most; <50 years rarely reported
Duration of illness Average 6 to 9 years Average 7 to 10 years
Atrophy - volumetric MRI Hippocampal atrophy, temporo-parietal cortical loss Hippocampal atrophy, temporo-parietal cortical loss
Hypometabolism - FDG-PET Temporo-parietal hypometabolism Temporo-parietal hypometabolism
Amyloid imaging - PiB-PET Precuneus/posterior cingulate and prefrontal; consistent striatal binding Precuneus/posterior cingulate and prefrontal; less consistent striatal binding
Pathology Plaques and tangles in all; CAA in most; cottonwool plaques in some Plaques and tangles in all; CAA in most
CSF Aβ42 Decreased Decreased
CSF tau, p-tau181 Increased Increased
Blood Aβ42/Aβ40 ratio Increased Variable
  1. Aβ, amyloid-beta; ADAD, autosomal-dominant Alzheimer's disease; CAA, cerebral amyloid angiopathy; CSF, cerebrospinal fluid; FDG, fluorodeoxyglucose; MRI, magnetic resonance imaging; PET, positron emission tomography; PiB, Pittsburgh Compound B; SAD, sporadic Alzheimer's disease.