BACKGROUND: Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disorder with a strong genetic background. It has been reported that modifiable factors, i.e. education (E), might act as proxies for reserve capacity. OBJECTIVE: To evaluate the impact of genetic background (positive family history, FH) on reserve mechanisms, by measuring regional cerebral blood flow (rCBF) correlates in FTLD patients. METHODS: 145 FTLD patients were recruited and underwent clinical, neuropsychological, behavioral assessment, and SPECT study. The main effect of E and FH on rCBF was evaluated. To test the potential interaction between the E and rCBF in FTLD patients with or without positive FH, a difference of slope analysis in the two groups was calculated. All the analyses were controlled for disease severity (Clinical Dementia Rating Scale, FTD-CDR). RESULTS: A main effect of education (E+ < E-) in frontal regions was reported, and high genetic loading (FH+ < FH-) was associated with a greater bilateral temporoparietal hypoperfusion. Evaluating the relationship between E and rCBF, a greater hypoperfusion of cingulate region in FH+ as compared to FH- was observed. DISCUSSION: Reserve mechanisms are available also in presence of an unfavorable genetic status. However, these compensatory mechanisms are modulated by the interaction with genetic factors.
BACKGROUND: Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disorder with a strong genetic background. It has been reported that modifiable factors, i.e. education (E), might act as proxies for reserve capacity. OBJECTIVE: To evaluate the impact of genetic background (positive family history, FH) on reserve mechanisms, by measuring regional cerebral blood flow (rCBF) correlates in FTLDpatients. METHODS: 145 FTLDpatients were recruited and underwent clinical, neuropsychological, behavioral assessment, and SPECT study. The main effect of E and FH on rCBF was evaluated. To test the potential interaction between the E and rCBF in FTLDpatients with or without positive FH, a difference of slope analysis in the two groups was calculated. All the analyses were controlled for disease severity (Clinical Dementia Rating Scale, FTD-CDR). RESULTS: A main effect of education (E+ < E-) in frontal regions was reported, and high genetic loading (FH+ < FH-) was associated with a greater bilateral temporoparietal hypoperfusion. Evaluating the relationship between E and rCBF, a greater hypoperfusion of cingulate region in FH+ as compared to FH- was observed. DISCUSSION: Reserve mechanisms are available also in presence of an unfavorable genetic status. However, these compensatory mechanisms are modulated by the interaction with genetic factors.
Authors: Luke Harper; Olof Lindberg; Martina Bocchetta; Emily G Todd; Olof Strandberg; Danielle van Westen; Erik Stomrud; Maria Landqvist Waldö; Lars-Olof Wahlund; Oskar Hansson; Jonathan D Rohrer; Alexander Santillo Journal: Cereb Cortex Date: 2022-09-04 Impact factor: 4.861
Authors: Enrico Premi; Mario Grassi; John van Swieten; Daniela Galimberti; Caroline Graff; Mario Masellis; Carmela Tartaglia; Fabrizio Tagliavini; James B Rowe; Robert Laforce; Elizabeth Finger; Giovanni B Frisoni; Alexandre de Mendonça; Sandro Sorbi; Stefano Gazzina; Maura Cosseddu; Silvana Archetti; Roberto Gasparotti; Marta Manes; Antonella Alberici; Manuel J Cardoso; Martina Bocchetta; David M Cash; Sebastian Ourselin; Alessandro Padovani; Jonathan D Rohrer; Barbara Borroni Journal: Brain Date: 2017-06-01 Impact factor: 13.501