title: Multiple Spontaneous Cerebral Microbleeds and Leukoencephalopathy in PSEN1-Associated Familial Alzheimer's Disease: Mirror of Cerebral Amyloid Angiopathy?
abstract: Cerebral microbleeds (CMB) might reflect specific underlying vascular pathologies like cerebral amyloid angiopathy (CAA). In the present study we report the gradient-echo MRI pattern of two siblings with P284S PSEN1 mutation. T2* gradient-echo images of the two subjects demonstrated multiple microbleeds in lobar regions. The role and causes of CMB in sporadic Alzheimer's disease (AD) patients have not been clearly established and useful contributions could derive from familial AD studies. Furthermore, since CAA is a potential risk factor for developing adverse events in AD immunization trials, the identification in vivo of CAA through non-invasive MRI methods could be useful to monitoring side effects.
authors.affiliation: Department of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Floris
authors.affiliation: Department of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Stefano
authors.affiliation: Department of Radiology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari, Italy.
authors.forename: Maria Valeria
authors.initials: MV
authors.lastname: Cherchi
authors.affiliation: Multiple Sclerosis Centre, University of Cagliari, Cagliari, Italy.
authors.forename: Gianna
authors.initials: G
authors.lastname: Costa
authors.affiliation: Department of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Marrosu
authors.affiliation: Multiple Sclerosis Centre, University of Cagliari, Cagliari, Italy.
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D001921:Brain / Q000473:pathology*; D016657:Cerebral Amyloid Angiopathy / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000473:pathology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D053764:Presenilin-1 / Q000235:genetics*; D035781:Siblings
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1
keywords: ARIA; Alzheimer’s disease; PSEN1 mutation; amyloid angiopathy; cerebral microbleeds