Baseline demographic and clinical characteristics of Longitudinal study of Early onset dementia And Family members

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Abstract Background Patients with early‐onset dementia (EOD) tend to be different from patients with late‐onset dementia in their rarities, atypical presentations, higher genetic predisposition and diverse etiologies. Although EOD has devastating impacts on patients and families, and their societies, there are few longitudinal observational studies providing sophisticated clinical, biomarkers and genetic information of EOD. Here, we introduce a Longitudinal study of Early onset dementia And Family members (LEAF) which was launched in April 2021. Method LEAF was originally designed to enroll at least 400 patients with EOD consisting of patients with Aβ‐positive EOAD (LEAF‐AD), FTD (LEAF‐FTD), and other EOD (LEAF‐Others) with annual follow‐up. Family members with a clear family history have also been enrolled in family cohort. Participants undergo a standardized clinical assessment and brain MRI and amyloid PET. We collect plasma, serum, and DNA for biomarkers and genetic studies. Clinical evaluations and blood collections are annually performed, and brain MRIs are followed up every two years. Result We have currently recruited a total of 296 participants with EOD. Aβ‐positive AD spectrum (n = 202) consists of EOAD dementia (82%), MCI (17%), and SCD (1%). FTD (n = 61) includes bvFTD (59%), svPPA (31%) and nfvPPA (10%). Other EOD (n = 33) is composed of leukodystrophy (12%), early onset neurodegenerative dementia other than EOAD, or FTD (66%), and EOD with unclear etiology (22%). The mean age was 60.4 for EOAD, 64.3 for FTD, and 58.2 for other EOD. The prevalence of women was higher in the EOAD and FTD, while the prevalence of men was higher in other EOD. The prevalence of APOE 4 was significantly higher in EOAD than in FTD and other EOD. Family histories of dementia were reported 32% in EOAD, 35% in FTD, and 44% in other EOD. We have, so far, identified 8 pathogenic variants (1 of EOAD, 3 of FTD, and 4 of other EOD) and enrolled two families as family cohort. Conclusion LEAF is the first nationwide multicenter, hospital‐based longitudinal study for EOD in Korea, and this will ultimately shed light on prevention and management of EOD and EOD‐related social issues.

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