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Background: Poly-T repeat lengths of rs10524523 in TOMM40 together with APOE polymorphism have been reported to affect the risk of late-onset Alzheimer's disease (LOAD) and the age of onset (AOO). Objective: To explore whether the AOO and cerebrospinal fluid biomarkers Aβ42, total tau and phosphorylated tau are associated with different repeat lengths. Methods: We conducted both the fragment and sequencing analysis of rs10524523 in 336 LOAD patients with a known APOE genotype. Results: AOO and Aβ42 levels associated significantly with certain poly-T repeat lengths of rs10524523 in LOAD patients encompassing APOE 34/44 genotype. Conclusion: We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect the APOE ε4-dependent association in LOAD.

Background: The Disease State Index (DSI) is a method which interprets data originating from multiple different sources, assisting the clinician in the diagnosis and follow-up of dementia diseases. Objective: We compared the differences in accuracy in differentiating stable mild cognitive impairment (S-MCI) and progressive MCI (P-MCI) obtained from different data combinations using the DSI. Methods: We investigated 212 cases with S-MCI and 165 cases with P-MCI from the Alzheimer's Disease Neuroimaging Initiative cohort. Data from neuropsychological tests, cerebrospinal fluid, apolipoprotein E (APOE) genotype, magnetic resonance imaging (MRI) and positron emission tomography (PET) were included. Results: The combination of all parameters gave the highest accuracy (accuracy 0.70, sensitivity 0.71, specificity 0.68). In the different categories, neuropsychological tests (0.65, 0.65, 0.65) and hippocampal volumetry (0.66, 0.66, 0.66) achieved the highest accuracy. Conclusion: In addition to neuropsychological testing, MRI is recommended to be included for differentiating S-MCI from P-MCI. APOE genotype, CSF and PET may provide some additional information.