Browsing by Author "Filippini, Nicola"
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- ItemBrain connectivity in neurodegenerative diseases--from phenotype to proteinopathy.(2014-10-21) Pievani, Michela; Filippini, Nicola; van den Heuvel, Martijn P; Cappa, Stefano F; Frisoni, Giovanni BFunctional and structural connectivity measures as assessed by means of functional and diffusion MRI are emerging as potential intermediate biomarkers for Alzheimer disease AD and other disorders This Review aims to summarize current evidence that connectivity biomarkers are associated with upstream and downstream disease processes molecular pathology and clinical symptoms respectively in the major neurodegenerative diseases The vast majority of studies have addressed functional and structural connectivity correlates of clinical phenotypes confirming the predictable correlation with topography and disease severity in AD and frontotemporal dementia In neurodegenerative diseases with motor symptoms structural but to date not functional connectivity has been consistently found to be associated with clinical phenotype and disease severity In the latest studies the focus has moved towards the investigation of connectivity correlates of molecular pathology Studies in cognitively healthy individuals with brain amyloidosis or genetic risk factors for AD have shown functional connectivity abnormalities in preclinical disease stages that are reminiscent of abnormalities observed in symptomatic AD This shift in approach is promising and may aid identification of early disease markers establish a paradigm for other neurodegenerative disorders shed light on the molecular neurobiology of connectivity disruption and ultimately clarify the pathophysiology of neurodegenerative diseases
- ItemInfluence of serotonin receptor 2A His452Tyr polymorphism on brain temporal structures: a volumetric MR study.(2006-03-23) Filippini, Nicola; Scassellati, Catia; Boccardi, Marina; Pievani, Michela; Testa, Cristina; Bocchio-Chiavetto, Luisella; Frisoni, Giovanni B; Gennarelli, MassimoSerotonin 5 HT receptors 2A are expressed in brain regions involved in memory and learning processes Recently a functional single nucleotide polymorphism in the 5 HT2A receptor gene leading to an amino acid substitution at residue 452 His452Tyr has been involved in memory performance persons with the rare 452Tyr allele showing poorer memory performance compared to His452His subjects To investigate a putative structural effect of this polymorphism on temporal areas typically involved in memory processes we performed voxel based morphometry VBM and region of interest ROI volumetric analysis on high resolution magnetic resonance images in 15 carriers and 61 noncarriers of the 452Tyr allele ROI volumetric analysis showed a significant reduction of the fractional volume of the temporal white matter in 452Tyr carriers 0 67 0 07 vs 0 73 0 08 P 0 007 VBM confirmed this finding and in addition showed reduced grey matter in the left hippocampus left inferior temporal gyrus and bilaterally in the middle and superior temporal gyrus A possible effect on synaptic plasticity or neurodevelopment might explain the influence of the His452Tyr polymorphism on temporal brain structures and this might be the basis for poorer memory performance in 452Tyr carriers These findings should be considered preliminary and future replication is needed
- ItemReduced cerebrovascular reactivity in young adults carrying the APOE ε4 allele.(2014-08-27) Suri, Sana; Mackay, Clare E; Kelly, Michael E; Germuska, Michael; Tunbridge, Elizabeth M; Frisoni, Giovanni B; Matthews, Paul M; Ebmeier, Klaus P; Bulte, Daniel P; Filippini, NicolaFunctional magnetic resonance imaging MRI studies have shown that APOE 2 and 4 carriers have similar patterns of blood oxygenation level dependent BOLD activation suggesting that we need to look beyond the BOLD signal to link APOE s effect on the brain to Alzheimer s disease AD risk