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Scores of disease processes may ultimately lead to dementia, but there are four major primary disorders with dementia as their main clinical feature: Alzheimer’s disease (AD), frontotemporal lobe degeneration (FTLD), cerebrovascular disease, and dementia with Lewy bodies [1, 2]. Diagnosis of the disease type is clinically challenging because of difficulty in the assessment of memory and cognitive impairment (especially in the early stages) and incomplete knowledge of clinical phenotypes [2]. Even within the set of PSEN1 variants that cause early-onset Alzheimer’s disease (EOAD), there is substantial clinical heterogeneity [3–6]. Given that many EOAD and FTLD dementias are Mendelian disorders with known causal genes [7–11], diagnosis could be improved by systematic identification of causal variants.

We describe two members of an extended family with early-onset dementia (Fig. 1). The presence of multiple affected family members in each generation suggested that the disease was an autosomal dominant form of AD. Both of our patients had advanced disease. One had only limited information available about her history and the second had certain atypical findings, so that a diagnosis of AD on a purely clinical basis was not warranted.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583332/