A mysterious case of early-onset Alzheimer’s without genetic markers

A group of researchers has identified what has been defined as "the youngest patient suffering from Alzheimer's disease". The young teenager of Chinese origin was only 17 years old when he began experiencing memory loss

Alzheimer’s disease is commonly viewed as an affliction of the elderly, yet early-onset cases, which include patients under 65 years of age, account for up to 10% of all diagnoses. Remarkably, almost all patients under 30 with Alzheimer’s can attribute their condition to pathological genetic mutations, placing them in the category of Familial Alzheimer’s Disease (FAD). The younger a person is at the time of diagnosis, the more likely it is due to a faulty gene they inherited.

In 2023, neurologists at a memory clinic in China diagnosed a 19-year-old with what they believe to be Alzheimer’s disease, making him the youngest person in the world to receive this diagnosis. The teenager began experiencing memory decline around 17, with cognitive losses worsening over the years.

Brain imaging revealed hippocampal shrinkage, involved in memory, and his cerebrospinal fluid indicated common markers of this prevalent form of dementia. However, researchers at Capital Medical University in Beijing were unable to find any of the usual mutations responsible for early-onset memory loss, nor any suspect genes when they conducted a whole-genome search.

Before this diagnosis in China, the youngest Alzheimer’s patient was 21 years old with a PSEN1 gene mutation, leading to the accumulation of abnormal proteins in the brain, forming clumps of toxic plaques, a hallmark of Alzheimer’s. Cases like the one in China are mystifying. No family member of the 19-year-old had a history of Alzheimer’s or dementia, making it difficult to classify as FAD. Additionally, the teenager had no other diseases, infections, or head traumas that could explain his sudden cognitive decline.

Two years before being referred to the memory clinic, the patient had begun experiencing concentration problems in class. Reading became difficult, and his short-term memory started to deteriorate, often forgetting the events of the day before and constantly losing his belongings. Eventually, the cognitive decline was so severe that he could not finish high school, although he could still live independently.

A year after being referred to the memory clinic, he exhibited losses in immediate recall, short-delay recall after three minutes, and long-delay recall after 30 minutes. His broad-scale memory score was 82% lower than peers his age, while his immediate memory score was 87% lower. The patient had very early-onset Alzheimer’s disease without clear pathogenic mutations, suggesting that its pathogenesis remains to be explored.

The case study, published in February 2023, simply demonstrates that Alzheimer’s does not follow a single path and is much more complex than previously thought. In a statement to the South China Morning Post, the neurologists who described the patient’s case argued that future studies should focus on early-onset cases to further improve the understanding of memory loss.

Source: Alzheimer’s Research Association

The article draws upon studies published and recommendations from international institutions and/or experts. We do not make claims in the medical-scientific field and report the facts as they are. Sources are indicated at the end of each article.
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