Publications by authors named "S Auriacombe"
Background: Diet is a major route of exposure to potentially neurotoxic chemicals, yet the epidemiological association of diet contaminants with dementia is unknown. We studied the link between dietary exposure to multiple chemicals and dementia risk in older persons, considering interaction with dietary fat content, which may modify the bioavailability and toxicity of (lipophilic) chemicals.
Methods: We included 1,288 non-demented participants from the French Three-City cohort who answered a food frequency questionnaire and 24-hour recall at baseline and were followed for incident dementia.
Purpose: To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and the moderate-to-strong risk factors rates in patients with Alzheimer disease (AD).
Methods: We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients.
GRN mutations are among the main genetic causes of frontotemporal dementia (FTD). Considering the progranulin involvement in lysosomal homeostasis, we aimed to evaluate if plasma lysosphingolipids (lysoSPL) are increased in GRN mutation carriers, and whether they might represent relevant fluid-based biomarkers in GRN-related diseases. We analyzed four lysoSPL levels in plasmas of 131 GRN carriers and 142 non-carriers, including healthy controls and patients with frontotemporal dementias (FTD) carrying a C9orf72 expansion or without any mutation.
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- - This study investigates the language deficits and brain atrophy in patients with primary progressive aphasia (PPA) linked to C9orf72 repeat expansions, analyzing 16 patients from diverse cohorts.
- - The research identifies that the most common type of aphasia associated with C9orf72 is the non-fluent/agrammatic variant, characterized by speech apraxia and significant left frontal lobe atrophy.
- - Findings highlight the need for C9orf72 testing in PPA patients, emphasizing the potential for gene-specific treatments in the future by mapping how C9orf72 mutations affect language-related brain areas.
Importance: Histone deacetylase inhibitors have been repeatedly shown to elevate progranulin levels in preclinical models. This report describes the first randomized clinical trial of a histone deacetylase inhibitor in frontotemporal dementia (FTD) resulting from progranulin (GRN) gene variations.
Objective: To characterize the safety, tolerability, plasma pharmacokinetics, and pharmacodynamic effects of oral FRM-0334 on plasma progranulin and other exploratory biomarkers, including fluorodeoxyglucose (FDG)-positron emission tomography (PET), in individuals with GRN haploinsufficiency.