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.Tthe 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.

Multiple Spontaneous Cerebral Microbleeds and Leukoencephalopathy in PSEN1-Associated Familial Alzheimer's Disease: Mirror of Cerebral Amyloid Angiopathy?

MARROSU, MARIA GIOVANNA
2015

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.Tthe 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.
Alzheimer's disease; Amyloid angiopathy; ARIA; Cerebral microbleeds; PSEN1 mutation; Alzheimer disease; Brain; Cerebral amyloid angiopathy; Female; Humans; Leukoencephalopathies; Magnetic resonance imaging; Male; Mutation; Pedigree; Presenilin-1; Siblings; Psychiatry and mental health; Geriatrics and gerontology; Clinical psychology; Medicine (all)
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11584/179609
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