Isabel J. Santana

The paper identifies the CSF YWHAG:NPTX2 ratio as a biomarker for predicting clinical severity and phenoconversion in FTLD, showing strong correlation with disease progression and improved trial design potential.

This paper uses machine learning to stratify genetic frontotemporal dementia patients into subtypes and provides progression scores that improve trial enrichment efficiency.

The paper develops an MRI-based machine learning classifier to identify presymptomatic C9orf72 carriers at high risk of disease onset within two years.

The paper shows that white matter hyperintensities (WMHs) appear before other biomarkers in GRN-related frontotemporal dementia, suggesting they are early indicators of disease progression.

This study investigates circadian rhythm disruptions in Machado-Joseph disease patients and preclinical models, finding impaired clock gene expression and disrupted activity and temperature rhythms.

This study examines TTR levels and instability in plasma and CSF across AD stages, finding associations with amyloid-beta, tau, and neuroinflammation markers.

This study investigates the association between cerebellar and subcortical atrophy and neuropsychiatric symptoms in genetic frontotemporal dementia, finding significant differences across genetic mutations.

This paper performs a large meta-analysis of GWAS in dementia with Lewy bodies, identifying sex-specific genetic risk signals and highlighting the need for larger cohorts.

This study shows that atrophy patterns in bvFTD are shaped by both global brain network structure and local transcriptomic vulnerability from disease-related genes.

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

The paper investigates the relationship between gene expression and brain atrophy in genetic frontotemporal dementia, finding correlations between atrophy patterns and specific gene sets related to vascular, glial, and neuronal functions.

The paper develops a random forest classifier to diagnose behavioral variant frontotemporal dementia using MRI and cognitive scores, achieving high accuracy in both training and validation cohorts.

This study estimates the heritability of dementia with Lewy bodies (DLB) and finds it to be higher than previous estimates, with low variance explained by polygenic risk scores from Parkinson's or Alzheimer's disease.