Of Brain and Bone: The Unusual Case of Dr. A

摘要: Frontotemporal dementia (FTD) is a clinical syndrome characterized by progressive decline in social conduct and focal pattern of frontal temporal lobe damage. Its biological basis still poorly understood but the focality brain degeneration provides powerful model to study cognitive anatomical cognition. Here, we present Dr. A, patient with rare hereditary bone disease (hereditary multiple exostoses) FTD (pathologically as Pick's disease), who presented profound behavioral disturbance acquired sociopathy. We conducted detailed genetic, pathological, neuroimaging study, including battery tests designed investigate A's abilities understand emotional cues infer mental states intentions others (theory mind). genetic profile suggests possibility that mutation causing exostoses, Ext2, may play role neurodegeneration fronto...