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In 2014, two siblings came to see Lena Kilander about some of the problems they’d started having. Like many of the people referred to the Memory Disorder Unit at Sweden’s Uppsala University Hospital, the pair had begun to lose things: a word here or there, the ability to do math that had once been effortless, their sense of direction even among familiar surroundings. But unlike with most of the people Kilander examined, it wasn’t old age that had begun to unravel their minds. At just 40 and 43, they seemed too young to be showing the first signs of Alzheimer’s disease.

Still, Kilander wasn’t exactly surprised to see them. She’d encountered such an aggressive, fast progressing form of the disease 20 years before, when she’d diagnosed their father with it. At the time, she’d had a hunch that a genetic glitch was to blame. But now, looking at two of the man’s three children, she was convinced. Kilander alerted some of her colleagues at the university’s Department of Public Health and Caring Sciences who’d identified rare Alzheimer’s-associated mutations passed down through other Swedish families. Together, they began the painstaking process of figuring out what had gone amiss in this one.

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